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.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000278616.4 | ATM-201 | 13147 | 3056aa | ENSP00000278616.4 | Protein coding | CCDS31669 | E9PIN0 E9PRG7 M0QXY8 Q13315 | NM_000051.3 | GENCODE basic, |
ENST00000452508.2 | ATM-003 | 12954 | 3056aa | ENSP00000388058.2 | Protein coding | CCDS31669 | E9PIN0 E9PRG7 M0QXY8 Q13315 | - | GENCODE basic, |
ENST00000527805.1 | ATM-001 | 4841 | 1369aa | ENSP00000435747.1 | Protein coding | E9PIN0 E9PRG7 M0QXY8 | - | CDS 3' incomplete, | |
ENST00000531525.2 | ATM-012 | 1513 | 155aa | ENSP00000434327.2 | Protein coding | H0YDU7 | - | CDS 5' incomplete, | |
ENST00000527891.1 | ATM-026 | 595 | 154aa | ENSP00000433955.1 | Protein coding | E9PIQ5 E9PRG7 | - | CDS 3' incomplete, | |
ENST00000601453.1 | ATM-027 | 582 | 135aa | ENSP00000469471.1 | Protein coding | E9PRG7 M0QXY8 | - | CDS 3' incomplete, | |
ENST00000532931.1 | ATM-016 | 481 | 93aa | ENSP00000432318.1 | Protein coding | E9PRG7 | - | CDS 3' incomplete, | |
ENST00000529588.1 | ATM-014 | 502 | 77aa | ENSP00000435524.1 | Nonsense mediated decay | - | - | CDS 5' incomplete, | |
ENST00000525178.1 | ATM-023 | 880 | No protein | - | Processed transcript | - | - | - | |
ENST00000533979.1 | ATM-025 | 705 | No protein | - | Processed transcript | - | - | - | |
ENST00000532765.1 | ATM-019 | 610 | No protein | - | Processed transcript | - | - | - | |
ENST00000419286.1 | ATM-009 | 305 | No protein | - | Processed transcript | - | - | - | |
ENST00000525012.1 | ATM-005 | 258 | No protein | - | Processed transcript | - | - | - | |
ENST00000533526.1 | ATM-006 | 234 | No protein | - | Processed transcript | - | - | - | |
ENST00000524792.1 | ATM-011 | 5912 | No protein | - | Retained intron | - | - | - | |
ENST00000530958.1 | ATM-002 | 5718 | No protein | - | Retained intron | - | - | - | |
ENST00000533690.1 | ATM-015 | 3354 | No protein | - | Retained intron | - | - | - | |
ENST00000533733.1 | ATM-010 | 1731 | No protein | - | Retained intron | - | - | - | |
ENST00000527181.1 | ATM-024 | 740 | No protein | - | Retained intron | - | - | - | |
ENST00000534625.1 | ATM-018 | 725 | No protein | - | Retained intron | - | - | - | |
ENST00000525056.1 | ATM-022 | 657 | No protein | - | Retained intron | - | - | - | |
ENST00000525537.1 | ATM-020 | 586 | No protein | - | Retained intron | - | - | - | |
ENST00000526567.1 | ATM-004 | 560 | No protein | - | Retained intron | - | - | - | |
ENST00000531957.1 | ATM-017 | 537 | No protein | - | Retained intron | - | - | - | |
ENST00000527389.1 | ATM-021 | 402 | No protein | - | Retained intron | - | - | - |