Canonical Allele Identifier: CA2590503865

Gene: COCH

Linked Data

• gnomAD v3: 14-30879064-C-CCT
• gnomAD v4: 14-30879064-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30879065_30879066dup , CM000676.2:g.30879065_30879066dup	GRCh38
NC_000014.8:g.31348271_31348272dup , CM000676.1:g.31348271_31348272dup	GRCh37
NC_000014.7:g.30418022_30418023dup	NCBI36
NG_008211.2:g.9531_9532dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.568+121_568+122dup	ENSP00000216361.5:n.568+121_568+122dup
ENST00000396618.9:c.373+121_373+122dup MANE Select	ENSP00000379862.3:n.373+121_373+122dup
ENST00000555117.2:c.373+121_373+122dup	ENSP00000493569.1:n.373+121_373+122dup
ENST00000643575.1:c.373+121_373+122dup	ENSP00000494838.1:n.373+121_373+122dup
ENST00000643697.1:n.618+121_618+122dup
ENST00000644874.2:c.373+121_373+122dup	ENSP00000496360.1:n.373+121_373+122dup
ENST00000216361.8:c.373+121_373+122dup	ENSP00000216361.4:n.373+121_373+122dup
ENST00000396618.7:c.373+121_373+122dup	ENSP00000379862.3:n.373+121_373+122dup
ENST00000460581.6:c.37+121_37+122dup	ENSP00000451713.1:n.37+121_37+122dup
ENST00000475087.5:c.373+121_373+122dup	ENSP00000451528.1:n.373+121_373+122dup
ENST00000553772.5:c.239+1337_239+1338dup	ENSP00000452343.1:n.239+1337_239+1338dup
ENST00000553833.5:n.527+121_527+122dup
ENST00000555881.5:c.83-1387_83-1386dup	ENSP00000452569.1:n.83-1387_83-1386dup
ENST00000556908.5:c.325+121_325+122dup	ENSP00000452541.1:n.325+121_325+122dup
ENST00000557065.1:c.156-358_156-357dup	ENSP00000451629.1:n.156-358_156-357dup
NM_001135058.1:c.373+121_373+122dup	NP_001128530.1:n.373+121_373+122dup
NM_004086.2:c.373+121_373+122dup	NP_004077.1:n.373+121_373+122dup
NR_038356.1:n.1618-2514_1618-2513dup
XM_011536539.1:c.373+121_373+122dup	XP_011534841.1:n.373+121_373+122dup
NM_001347720.1:c.568+121_568+122dup	NP_001334649.1:n.568+121_568+122dup
XM_017021071.1:c.568+121_568+122dup	XP_016876560.1:n.568+121_568+122dup
XM_024449506.1:c.373+121_373+122dup	XP_024305274.1:n.373+121_373+122dup
NM_004086.3:c.373+121_373+122dup MANE Select	NP_004077.1:n.373+121_373+122dup
NM_001135058.2:c.373+121_373+122dup	NP_001128530.1:n.373+121_373+122dup
NM_001347720.2:c.568+121_568+122dup	NP_001334649.1:n.568+121_568+122dup