Human (GRCh37.p13)
Description

otoferlin [Source:HGNC Symbol;Acc:8515]

Gene Synonyms

AUNB1, DFNB6, DFNB9, FER1L2, NSRD9

Location

Chromosome 2: 26,680,071-26,781,566 reverse strand.

GRCh37:CM000664.1

About this gene

This gene has 7 transcripts (splice variants), 3 paralogues and is associated with 2 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000272371.2OTOF-00171561997aaENSP00000272371.2
 
Protein coding
CCDS1725Q9HC10 NM_194248.2GENCODE basic
ENST00000403946.3OTOF-00569371997aaENSP00000385255.3
 
Protein coding
Q9HC10 NM_001287489.1GENCODE basic
ENST00000402415.3OTOF-00451081307aaENSP00000383906.3
 
Protein coding
CCDS46241Q9HC10 NM_194322.2GENCODE basic
ENST00000338581.6OTOF-00249541230aaENSP00000345137.6
 
Protein coding
CCDS1726Q9HC10 NM_004802.3GENCODE basic
ENST00000339598.3OTOF-00347561230aaENSP00000344521.3
 
Protein coding
CCDS1724Q9HC10 NM_194323.2GENCODE basic
ENST00000426958.1OTOF-007557141aaENSP00000389917.1
 
Protein coding
--CDS 5' incomplete
ENST00000464574.1OTOF-006918No protein-
 
Retained intron
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