Canonical Allele Identifier: CA2575499943

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889776del , CM000676.2:g.30889776del	GRCh38
NC_000014.8:g.31358982del , CM000676.1:g.31358982del	GRCh37
NC_000014.7:g.30428733del	NCBI36
NG_008211.2:g.20242del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.1833del	ENSP00000216361.5:p.Glu612AsnfsTer22
ENST00000396618.9:c.1638del MANE Select	ENSP00000379862.3:p.Glu547AsnfsTer22
ENST00000555117.2:c.1534+3464del	ENSP00000493569.1:n.1534+3464del
ENST00000643575.1:c.1638del	ENSP00000494838.1:p.Glu547AsnfsTer8
ENST00000643697.1:n.1940del
ENST00000644874.2:c.1638del	ENSP00000496360.1:p.Glu547AsnfsTer22
ENST00000216361.8:c.1638del	ENSP00000216361.4:p.Glu547AsnfsTer22
ENST00000396618.7:c.1638del	ENSP00000379862.3:p.Glu547AsnfsTer22
ENST00000460581.6:c.1302del	ENSP00000451713.1:p.Glu435AsnfsTer22
ENST00000468826.2:c.1289del
ENST00000475087.5:c.1477+3464del	ENSP00000451528.1:n.1477+3464del
NM_001135058.1:c.1638del	NP_001128530.1:p.Glu547AsnfsTer22
NM_004086.2:c.1638del	NP_004077.1:p.Glu547AsnfsTer22
NR_038356.1:n.33del
XM_011536539.1:c.1638del	XP_011534841.1:p.Glu547AsnfsTer8
NM_001347720.1:c.1833del	NP_001334649.1:p.Glu612AsnfsTer22
XM_017021071.1:c.1833del	XP_016876560.1:p.Glu612AsnfsTer22
XM_024449506.1:c.1695del	XP_024305274.1:p.Glu566AsnfsTer22
NM_004086.3:c.1638del MANE Select	NP_004077.1:p.Glu547AsnfsTer22
NM_001135058.2:c.1638del	NP_001128530.1:p.Glu547AsnfsTer22
NM_001347720.2:c.1833del	NP_001334649.1:p.Glu612AsnfsTer22