Canonical Allele Identifier: CA2126950969

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30879035_30879037delinsGAA , CM000676.2:g.30879035_30879037delinsGAA	GRCh38
NC_000014.8:g.31348241_31348243delinsGAA , CM000676.1:g.31348241_31348243delinsGAA	GRCh37
NC_000014.7:g.30417992_30417994delinsGAA	NCBI36
NG_008211.2:g.9501_9503delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.568+91_568+93delinsGAA	ENSP00000216361.5:n.568+91_568+93delinsGAA
ENST00000396618.9:c.373+91_373+93delinsGAA MANE Select	ENSP00000379862.3:n.373+91_373+93delinsGAA
ENST00000555117.2:c.373+91_373+93delinsGAA	ENSP00000493569.1:n.373+91_373+93delinsGAA
ENST00000643575.1:c.373+91_373+93delinsGAA	ENSP00000494838.1:n.373+91_373+93delinsGAA
ENST00000643697.1:n.618+91_618+93delinsGAA
ENST00000644874.2:c.373+91_373+93delinsGAA	ENSP00000496360.1:n.373+91_373+93delinsGAA
ENST00000216361.8:c.373+91_373+93delinsGAA	ENSP00000216361.4:n.373+91_373+93delinsGAA
ENST00000396618.7:c.373+91_373+93delinsGAA	ENSP00000379862.3:n.373+91_373+93delinsGAA
ENST00000460581.6:c.37+91_37+93delinsGAA	ENSP00000451713.1:n.37+91_37+93delinsGAA
ENST00000475087.5:c.373+91_373+93delinsGAA	ENSP00000451528.1:n.373+91_373+93delinsGAA
ENST00000553772.5:c.239+1307_239+1309delinsGAA	ENSP00000452343.1:n.239+1307_239+1309delinsGAA
ENST00000553833.5:n.527+91_527+93delinsGAA
ENST00000555881.5:c.83-1417_83-1415delinsGAA	ENSP00000452569.1:n.83-1417_83-1415delinsGAA
ENST00000556908.5:c.325+91_325+93delinsGAA	ENSP00000452541.1:n.325+91_325+93delinsGAA
ENST00000557065.1:c.156-388_156-386delinsGAA	ENSP00000451629.1:n.156-388_156-386delinsGAA
NM_001135058.1:c.373+91_373+93delinsGAA	NP_001128530.1:n.373+91_373+93delinsGAA
NM_004086.2:c.373+91_373+93delinsGAA	NP_004077.1:n.373+91_373+93delinsGAA
NR_038356.1:n.1618-2485_1618-2483delinsTTC
XM_011536539.1:c.373+91_373+93delinsGAA	XP_011534841.1:n.373+91_373+93delinsGAA
NM_001347720.1:c.568+91_568+93delinsGAA	NP_001334649.1:n.568+91_568+93delinsGAA
XM_017021071.1:c.568+91_568+93delinsGAA	XP_016876560.1:n.568+91_568+93delinsGAA
XM_024449506.1:c.373+91_373+93delinsGAA	XP_024305274.1:n.373+91_373+93delinsGAA
NM_004086.3:c.373+91_373+93delinsGAA MANE Select	NP_004077.1:n.373+91_373+93delinsGAA
NM_001135058.2:c.373+91_373+93delinsGAA	NP_001128530.1:n.373+91_373+93delinsGAA
NM_001347720.2:c.568+91_568+93delinsGAA	NP_001334649.1:n.568+91_568+93delinsGAA