Canonical Allele Identifier: CA2624446466

Gene: COCH

Linked Data

• gnomAD v4: 14-30889773-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889775dup , CM000676.2:g.30889775dup	GRCh38
NC_000014.8:g.31358981dup , CM000676.1:g.31358981dup	GRCh37
NC_000014.7:g.30428732dup	NCBI36
NG_008211.2:g.20241dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1832dup	ENSP00000216361.5:p.Leu611PhefsTer11
ENST00000396618.9:c.1637dup MANE Select	ENSP00000379862.3:p.Leu546PhefsTer11
ENST00000555117.2:c.1534+3463dup	ENSP00000493569.1:n.1534+3463dup
ENST00000643575.1:c.1637dup	ENSP00000494838.1:p.Leu546PhefsTer21
ENST00000643697.1:n.1939dup
ENST00000644874.2:c.1637dup	ENSP00000496360.1:p.Leu546PhefsTer11
ENST00000216361.8:c.1637dup	ENSP00000216361.4:p.Leu546PhefsTer11
ENST00000396618.7:c.1637dup	ENSP00000379862.3:p.Leu546PhefsTer11
ENST00000460581.6:c.1301dup	ENSP00000451713.1:p.Leu434PhefsTer11
ENST00000468826.2:c.1288dup
ENST00000475087.5:c.1477+3463dup	ENSP00000451528.1:n.1477+3463dup
NM_001135058.1:c.1637dup	NP_001128530.1:p.Leu546PhefsTer11
NM_004086.2:c.1637dup	NP_004077.1:p.Leu546PhefsTer11
NR_038356.1:n.35dup
XM_011536539.1:c.1637dup	XP_011534841.1:p.Leu546PhefsTer21
NM_001347720.1:c.1832dup	NP_001334649.1:p.Leu611PhefsTer11
XM_017021071.1:c.1832dup	XP_016876560.1:p.Leu611PhefsTer11
XM_024449506.1:c.1694dup	XP_024305274.1:p.Leu565PhefsTer11
NM_004086.3:c.1637dup MANE Select	NP_004077.1:p.Leu546PhefsTer11
NM_001135058.2:c.1637dup	NP_001128530.1:p.Leu546PhefsTer11
NM_001347720.2:c.1832dup	NP_001334649.1:p.Leu611PhefsTer11