Canonical Allele Identifier: CA2624446903

Gene: COCH

Linked Data

• gnomAD v4: 14-30879286-A-AGCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30879290_30879293dup , CM000676.2:g.30879290_30879293dup	GRCh38
NC_000014.8:g.31348496_31348499dup , CM000676.1:g.31348496_31348499dup	GRCh37
NC_000014.7:g.30418247_30418250dup	NCBI36
NG_008211.2:g.9756_9759dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.569-133_569-130dup	ENSP00000216361.5:n.569-133_569-130dup
ENST00000396618.9:c.374-133_374-130dup MANE Select	ENSP00000379862.3:n.374-133_374-130dup
ENST00000555117.2:c.374-133_374-130dup	ENSP00000493569.1:n.374-133_374-130dup
ENST00000643575.1:c.374-133_374-130dup	ENSP00000494838.1:n.374-133_374-130dup
ENST00000643697.1:n.619-133_619-130dup
ENST00000644874.2:c.374-133_374-130dup	ENSP00000496360.1:n.374-133_374-130dup
ENST00000216361.8:c.374-133_374-130dup	ENSP00000216361.4:n.374-133_374-130dup
ENST00000396618.7:c.374-133_374-130dup	ENSP00000379862.3:n.374-133_374-130dup
ENST00000460581.6:c.38-133_38-130dup	ENSP00000451713.1:n.38-133_38-130dup
ENST00000475087.5:c.374-133_374-130dup	ENSP00000451528.1:n.374-133_374-130dup
ENST00000553772.5:c.240-1162_240-1159dup	ENSP00000452343.1:n.240-1162_240-1159dup
ENST00000553833.5:n.528-133_528-130dup
ENST00000555881.5:c.83-1162_83-1159dup	ENSP00000452569.1:n.83-1162_83-1159dup
ENST00000556908.5:c.326-133_326-130dup	ENSP00000452541.1:n.326-133_326-130dup
ENST00000557065.1:c.156-133_156-130dup	ENSP00000451629.1:n.156-133_156-130dup
NM_001135058.1:c.374-133_374-130dup	NP_001128530.1:n.374-133_374-130dup
NM_004086.2:c.374-133_374-130dup	NP_004077.1:n.374-133_374-130dup
NR_038356.1:n.1618-2738_1618-2735dup
XM_011536539.1:c.374-133_374-130dup	XP_011534841.1:n.374-133_374-130dup
NM_001347720.1:c.569-133_569-130dup	NP_001334649.1:n.569-133_569-130dup
XM_017021071.1:c.569-133_569-130dup	XP_016876560.1:n.569-133_569-130dup
XM_024449506.1:c.374-133_374-130dup	XP_024305274.1:n.374-133_374-130dup
NM_004086.3:c.374-133_374-130dup MANE Select	NP_004077.1:n.374-133_374-130dup
NM_001135058.2:c.374-133_374-130dup	NP_001128530.1:n.374-133_374-130dup
NM_001347720.2:c.569-133_569-130dup	NP_001334649.1:n.569-133_569-130dup