Canonical Allele Identifier: CA2624446592

Gene: COCH

Linked Data

• gnomAD v4: 14-30889901-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889902_30889903del , CM000676.2:g.30889902_30889903del	GRCh38
NC_000014.8:g.31359108_31359109del , CM000676.1:g.31359108_31359109del	GRCh37
NC_000014.7:g.30428859_30428860del	NCBI36
NG_008211.2:g.20368_20369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.*111_*112del	ENSP00000216361.5:n.*111_*112del
ENST00000396618.9:c.*111_*112del MANE Select	ENSP00000379862.3:n.*111_*112del
ENST00000555117.2:c.1534+3590_1534+3591del	ENSP00000493569.1:n.1534+3590_1534+3591del
ENST00000643575.1:c.*2+109_*2+110del	ENSP00000494838.1:n.*2+109_*2+110del
ENST00000644874.2:c.*111_*112del	ENSP00000496360.1:n.*111_*112del
ENST00000216361.8:c.*111_*112del	ENSP00000216361.4:n.*111_*112del
ENST00000396618.7:c.*111_*112del	ENSP00000379862.3:n.*111_*112del
ENST00000460581.6:c.*111_*112del	ENSP00000451713.1:n.*111_*112del
ENST00000468826.2:c.1415_1416del
ENST00000475087.5:c.1477+3590_1477+3591del	ENSP00000451528.1:n.1477+3590_1477+3591del
NM_001135058.1:c.*111_*112del	NP_001128530.1:n.*111_*112del
NM_004086.2:c.*111_*112del	NP_004077.1:n.*111_*112del
XM_011536539.1:c.*2+109_*2+110del	XP_011534841.1:n.*2+109_*2+110del
NM_001347720.1:c.*111_*112del	NP_001334649.1:n.*111_*112del
XM_017021071.1:c.*111_*112del	XP_016876560.1:n.*111_*112del
XM_024449506.1:c.*111_*112del	XP_024305274.1:n.*111_*112del
NM_004086.3:c.*111_*112del MANE Select	NP_004077.1:n.*111_*112del
NM_001135058.2:c.*111_*112del	NP_001128530.1:n.*111_*112del
NM_001347720.2:c.*111_*112del	NP_001334649.1:n.*111_*112del