Canonical Allele Identifier: CA704923943

Gene: COCH

Linked Data

• dbSNP Id: rs1216793292
• MyVariant Identifiers: chr14:g.31347979_31347980del (hg19) ; chr14:g.30878773_30878774del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878776_30878777del , CM000676.2:g.30878776_30878777del	GRCh38
NC_000014.8:g.31347982_31347983del , CM000676.1:g.31347982_31347983del	GRCh37
NC_000014.7:g.30417733_30417734del	NCBI36
NG_008211.2:g.9242_9243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.435-35_435-34del	ENSP00000216361.5:n.435-35_435-34del
ENST00000396618.9:c.240-35_240-34del MANE Select	ENSP00000379862.3:n.240-35_240-34del
ENST00000555117.2:c.240-35_240-34del	ENSP00000493569.1:n.240-35_240-34del
ENST00000643575.1:c.240-35_240-34del	ENSP00000494838.1:n.240-35_240-34del
ENST00000643697.1:n.485-35_485-34del
ENST00000644874.2:c.240-35_240-34del	ENSP00000496360.1:n.240-35_240-34del
ENST00000216361.8:c.240-35_240-34del	ENSP00000216361.4:n.240-35_240-34del
ENST00000396618.7:c.240-35_240-34del	ENSP00000379862.3:n.240-35_240-34del
ENST00000460581.6:c.-97-35_-97-34del	ENSP00000451713.1:n.-97-35_-97-34del
ENST00000475087.5:c.240-35_240-34del	ENSP00000451528.1:n.240-35_240-34del
ENST00000553772.5:c.239+1048_239+1049del	ENSP00000452343.1:n.239+1048_239+1049del
ENST00000553833.5:n.394-35_394-34del
ENST00000555881.5:c.83-1676_83-1675del	ENSP00000452569.1:n.83-1676_83-1675del
ENST00000556908.5:c.192-35_192-34del	ENSP00000452541.1:n.192-35_192-34del
ENST00000557065.1:c.156-647_156-646del	ENSP00000451629.1:n.156-647_156-646del
NM_001135058.1:c.240-35_240-34del	NP_001128530.1:n.240-35_240-34del
NM_004086.2:c.240-35_240-34del	NP_004077.1:n.240-35_240-34del
NR_038356.1:n.1618-2222_1618-2221del
XM_011536539.1:c.240-35_240-34del	XP_011534841.1:n.240-35_240-34del
NM_001347720.1:c.435-35_435-34del	NP_001334649.1:n.435-35_435-34del
XM_017021071.1:c.435-35_435-34del	XP_016876560.1:n.435-35_435-34del
XM_024449506.1:c.240-35_240-34del	XP_024305274.1:n.240-35_240-34del
NM_004086.3:c.240-35_240-34del MANE Select	NP_004077.1:n.240-35_240-34del
NM_001135058.2:c.240-35_240-34del	NP_001128530.1:n.240-35_240-34del
NM_001347720.2:c.435-35_435-34del	NP_001334649.1:n.435-35_435-34del