Canonical Allele Identifier: CA2624446594

Gene: COCH

Linked Data

• gnomAD v4: 14-30878826-CTCAGGGGGACCTGTACGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878829_30878847del , CM000676.2:g.30878829_30878847del	GRCh38
NC_000014.8:g.31348035_31348053del , CM000676.1:g.31348035_31348053del	GRCh37
NC_000014.7:g.30417786_30417804del	NCBI36
NG_008211.2:g.9295_9313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.453_471del	ENSP00000216361.5:p.Gly152IlefsTer12
ENST00000396618.9:c.258_276del MANE Select	ENSP00000379862.3:p.Gly87IlefsTer12
ENST00000555117.2:c.258_276del	ENSP00000493569.1:p.Gly87IlefsTer12
ENST00000643575.1:c.258_276del	ENSP00000494838.1:p.Gly87IlefsTer12
ENST00000643697.1:n.503_521del
ENST00000644874.2:c.258_276del	ENSP00000496360.1:p.Gly87IlefsTer12
ENST00000216361.8:c.258_276del	ENSP00000216361.4:p.Gly87IlefsTer12
ENST00000396618.7:c.258_276del	ENSP00000379862.3:p.Gly87IlefsTer12
ENST00000460581.6:c.-79_-61del	ENSP00000451713.1:n.-79_-61del
ENST00000475087.5:c.258_276del	ENSP00000451528.1:p.Gly87IlefsTer12
ENST00000553772.5:c.239+1101_239+1119del	ENSP00000452343.1:n.239+1101_239+1119del
ENST00000553833.5:n.412_430del
ENST00000555881.5:c.83-1623_83-1605del	ENSP00000452569.1:n.83-1623_83-1605del
ENST00000556908.5:c.210_228del	ENSP00000452541.1:p.Gly71IlefsTer12
ENST00000557065.1:c.156-594_156-576del	ENSP00000451629.1:n.156-594_156-576del
NM_001135058.1:c.258_276del	NP_001128530.1:p.Gly87IlefsTer12
NM_004086.2:c.258_276del	NP_004077.1:p.Gly87IlefsTer12
NR_038356.1:n.1618-2293_1618-2275del
XM_011536539.1:c.258_276del	XP_011534841.1:p.Gly87IlefsTer12
NM_001347720.1:c.453_471del	NP_001334649.1:p.Gly152IlefsTer12
XM_017021071.1:c.453_471del	XP_016876560.1:p.Gly152IlefsTer12
XM_024449506.1:c.258_276del	XP_024305274.1:p.Gly87IlefsTer12
NM_004086.3:c.258_276del MANE Select	NP_004077.1:p.Gly87IlefsTer12
NM_001135058.2:c.258_276del	NP_001128530.1:p.Gly87IlefsTer12
NM_001347720.2:c.453_471del	NP_001334649.1:p.Gly152IlefsTer12