Canonical Allele Identifier: CA2624446770

Gene: COCH

Linked Data

• gnomAD v4: 14-30879002-GCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30879003_30879005del , CM000676.2:g.30879003_30879005del	GRCh38
NC_000014.8:g.31348209_31348211del , CM000676.1:g.31348209_31348211del	GRCh37
NC_000014.7:g.30417960_30417962del	NCBI36
NG_008211.2:g.9469_9471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.568+59_568+61del	ENSP00000216361.5:n.568+59_568+61del
ENST00000396618.9:c.373+59_373+61del MANE Select	ENSP00000379862.3:n.373+59_373+61del
ENST00000555117.2:c.373+59_373+61del	ENSP00000493569.1:n.373+59_373+61del
ENST00000643575.1:c.373+59_373+61del	ENSP00000494838.1:n.373+59_373+61del
ENST00000643697.1:n.618+59_618+61del
ENST00000644874.2:c.373+59_373+61del	ENSP00000496360.1:n.373+59_373+61del
ENST00000216361.8:c.373+59_373+61del	ENSP00000216361.4:n.373+59_373+61del
ENST00000396618.7:c.373+59_373+61del	ENSP00000379862.3:n.373+59_373+61del
ENST00000460581.6:c.37+59_37+61del	ENSP00000451713.1:n.37+59_37+61del
ENST00000475087.5:c.373+59_373+61del	ENSP00000451528.1:n.373+59_373+61del
ENST00000553772.5:c.239+1275_239+1277del	ENSP00000452343.1:n.239+1275_239+1277del
ENST00000553833.5:n.527+59_527+61del
ENST00000555881.5:c.83-1449_83-1447del	ENSP00000452569.1:n.83-1449_83-1447del
ENST00000556908.5:c.325+59_325+61del	ENSP00000452541.1:n.325+59_325+61del
ENST00000557065.1:c.156-420_156-418del	ENSP00000451629.1:n.156-420_156-418del
NM_001135058.1:c.373+59_373+61del	NP_001128530.1:n.373+59_373+61del
NM_004086.2:c.373+59_373+61del	NP_004077.1:n.373+59_373+61del
NR_038356.1:n.1618-2453_1618-2451del
XM_011536539.1:c.373+59_373+61del	XP_011534841.1:n.373+59_373+61del
NM_001347720.1:c.568+59_568+61del	NP_001334649.1:n.568+59_568+61del
XM_017021071.1:c.568+59_568+61del	XP_016876560.1:n.568+59_568+61del
XM_024449506.1:c.373+59_373+61del	XP_024305274.1:n.373+59_373+61del
NM_004086.3:c.373+59_373+61del MANE Select	NP_004077.1:n.373+59_373+61del
NM_001135058.2:c.373+59_373+61del	NP_001128530.1:n.373+59_373+61del
NM_001347720.2:c.568+59_568+61del	NP_001334649.1:n.568+59_568+61del