Canonical Allele Identifier: CA2837994914

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889769del , CM000676.2:g.30889769del	GRCh38
NC_000014.8:g.31358975del , CM000676.1:g.31358975del	GRCh37
NC_000014.7:g.30428726del	NCBI36
NG_008211.2:g.20235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1826del	ENSP00000216361.5:p.Asp609ValfsTer3
ENST00000396618.9:c.1631del MANE Select	ENSP00000379862.3:p.Asp544ValfsTer3
ENST00000555117.2:c.1534+3457del	ENSP00000493569.1:n.1534+3457del
ENST00000643575.1:c.1631del	ENSP00000494838.1:p.Asp544ValfsTer3
ENST00000643697.1:n.1933del
ENST00000644874.2:c.1631del	ENSP00000496360.1:p.Asp544ValfsTer3
ENST00000216361.8:c.1631del	ENSP00000216361.4:p.Asp544ValfsTer3
ENST00000396618.7:c.1631del	ENSP00000379862.3:p.Asp544ValfsTer3
ENST00000460581.6:c.1295del	ENSP00000451713.1:p.Asp432ValfsTer3
ENST00000468826.2:c.1282del
ENST00000475087.5:c.1477+3457del	ENSP00000451528.1:n.1477+3457del
NM_001135058.1:c.1631del	NP_001128530.1:p.Asp544ValfsTer3
NM_004086.2:c.1631del	NP_004077.1:p.Asp544ValfsTer3
NR_038356.1:n.40del
XM_011536539.1:c.1631del	XP_011534841.1:p.Asp544ValfsTer3
NM_001347720.1:c.1826del	NP_001334649.1:p.Asp609ValfsTer3
XM_017021071.1:c.1826del	XP_016876560.1:p.Asp609ValfsTer3
XM_024449506.1:c.1688del	XP_024305274.1:p.Asp563ValfsTer3
NM_004086.3:c.1631del MANE Select	NP_004077.1:p.Asp544ValfsTer3
NM_001135058.2:c.1631del	NP_001128530.1:p.Asp544ValfsTer3
NM_001347720.2:c.1826del	NP_001334649.1:p.Asp609ValfsTer3