Canonical Allele Identifier: CA2624448376

Gene: COCH

Linked Data

• gnomAD v4: 14-30885433-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885434del , CM000676.2:g.30885434del	GRCh38
NC_000014.8:g.31354640del , CM000676.1:g.31354640del	GRCh37
NC_000014.7:g.30424391del	NCBI36
NG_008211.2:g.15900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.969del	ENSP00000216361.5:p.Asp324MetfsTer4
ENST00000396618.9:c.774del MANE Select	ENSP00000379862.3:p.Asp259MetfsTer4
ENST00000555117.2:c.831del	ENSP00000493569.1:p.Asp278MetfsTer4
ENST00000643575.1:c.774del	ENSP00000494838.1:p.Asp259MetfsTer4
ENST00000643697.1:n.1076del
ENST00000644874.2:c.774del	ENSP00000496360.1:p.Asp259MetfsTer4
ENST00000216361.8:c.774del	ENSP00000216361.4:p.Asp259MetfsTer4
ENST00000396618.7:c.774del	ENSP00000379862.3:p.Asp259MetfsTer4
ENST00000460581.6:c.438del	ENSP00000451713.1:p.Asp147MetfsTer4
ENST00000468826.2:c.425del
ENST00000475087.5:c.774del	ENSP00000451528.1:p.Asp259MetfsTer4
ENST00000555881.5:c.420del	ENSP00000452569.1:p.Asp141MetfsTer4
ENST00000557065.1:c.556del	ENSP00000451629.1:n.556del
NM_001135058.1:c.774del	NP_001128530.1:p.Asp259MetfsTer4
NM_004086.2:c.774del	NP_004077.1:p.Asp259MetfsTer4
NR_038356.1:n.1431del
XM_011536539.1:c.774del	XP_011534841.1:p.Asp259MetfsTer4
NM_001347720.1:c.969del	NP_001334649.1:p.Asp324MetfsTer4
XM_017021071.1:c.969del	XP_016876560.1:p.Asp324MetfsTer4
XM_024449506.1:c.831del	XP_024305274.1:p.Asp278MetfsTer4
NM_004086.3:c.774del MANE Select	NP_004077.1:p.Asp259MetfsTer4
NM_001135058.2:c.774del	NP_001128530.1:p.Asp259MetfsTer4
NM_001347720.2:c.969del	NP_001334649.1:p.Asp324MetfsTer4