Human (GRCh37.p13)
Description

ataxia telangiectasia mutated [Source:HGNC Symbol;Acc:795]

Gene Synonyms

AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1

Location

Chromosome 11: 108,093,211-108,239,829 forward strand.

GRCh37:CM000673.1

About this gene

This gene has 25 transcripts (splice variants) and is associated with 130 phenotypes.

Show/hide columns (1 hidden)
  • Transcript ID
  • Name
  • bp
  • Protein
  • Translation ID
  • Biotype
  • CCDS
  • UniProt Match
  • RefSeq
  • Flags
Transcript IDNamebpProteinBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000278616.4ATM-201131473056aa
 
Protein coding
CCDS31669E9PIN0 E9PRG7 M0QXY8
Q13315
NM_000051.3Ensembl CanonicalGENCODE Basic
ENST00000452508.2ATM-003129543056aa
 
Protein coding
CCDS31669E9PIN0 E9PRG7 M0QXY8
Q13315
-GENCODE Basic
ENST00000527805.1ATM-00148411369aa
 
Protein coding
E9PIN0 E9PRG7 M0QXY8
-CDS 3' incomplete
ENST00000531525.2ATM-0121513155aa
 
Protein coding
H0YDU7 -CDS 5' incomplete
ENST00000527891.1ATM-026595154aa
 
Protein coding
E9PIQ5 E9PRG7 -CDS 3' incomplete
ENST00000601453.1ATM-027582135aa
 
Protein coding
E9PRG7 M0QXY8 -CDS 3' incomplete
ENST00000532931.1ATM-01648193aa
 
Protein coding
E9PRG7 -CDS 3' incomplete
ENST00000529588.1ATM-01450277aa
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000525178.1ATM-023880No protein
 
Processed transcript
---
ENST00000533979.1ATM-025705No protein
 
Processed transcript
---
ENST00000532765.1ATM-019610No protein
 
Processed transcript
---
ENST00000419286.1ATM-009305No protein
 
Processed transcript
---
ENST00000525012.1ATM-005258No protein
 
Processed transcript
---
ENST00000533526.1ATM-006234No protein
 
Processed transcript
---
ENST00000524792.1ATM-0115912No protein
 
Retained intron
---
ENST00000530958.1ATM-0025718No protein
 
Retained intron
---
ENST00000533690.1ATM-0153354No protein
 
Retained intron
---
ENST00000533733.1ATM-0101731No protein
 
Retained intron
---
ENST00000527181.1ATM-024740No protein
 
Retained intron
---
ENST00000534625.1ATM-018725No protein
 
Retained intron
---
ENST00000525056.1ATM-022657No protein
 
Retained intron
---
ENST00000525537.1ATM-020586No protein
 
Retained intron
---
ENST00000526567.1ATM-004560No protein
 
Retained intron
---
ENST00000531957.1ATM-017537No protein
 
Retained intron
---
ENST00000527389.1ATM-021402No protein
 
Retained intron
---
Name

ATM (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: Q13315

CCDS

This gene is a member of the Human CCDS set: CCDS31669.1

LRG

LRG_135 provides a stable genomic reference framework for describing sequence variants for this gene

Ensembl version

ENSG00000149311.13

Other assemblies

This gene maps to 108,222,484-108,369,102 in GRCh38 coordinates.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:
OTTHUMG00000166480 (version 3)

Basic Gene Annotations from GENCODE 19

The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).

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Basic Gene Annotations from GENCODE 19

The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).

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Contigs

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