Canonical Allele Identifier: CA2624446385

Gene: COCH

Linked Data

• gnomAD v4: 14-30889628-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889629_30889631del , CM000676.2:g.30889629_30889631del	GRCh38
NC_000014.8:g.31358835_31358837del , CM000676.1:g.31358835_31358837del	GRCh37
NC_000014.7:g.30428586_30428588del	NCBI36
NG_008211.2:g.20095_20097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1686_1688del	ENSP00000216361.5:p.Ser563del
ENST00000396618.9:c.1491_1493del MANE Select	ENSP00000379862.3:p.Ser498del
ENST00000555117.2:c.1534+3317_1534+3319del	ENSP00000493569.1:n.1534+3317_1534+3319del
ENST00000643575.1:c.1491_1493del	ENSP00000494838.1:p.Ser498del
ENST00000643697.1:n.1793_1795del
ENST00000644874.2:c.1491_1493del	ENSP00000496360.1:p.Ser498del
ENST00000216361.8:c.1491_1493del	ENSP00000216361.4:p.Ser498del
ENST00000396618.7:c.1491_1493del	ENSP00000379862.3:p.Ser498del
ENST00000460581.6:c.1155_1157del	ENSP00000451713.1:p.Ser386del
ENST00000468826.2:c.1142_1144del
ENST00000475087.5:c.1477+3317_1477+3319del	ENSP00000451528.1:n.1477+3317_1477+3319del
NM_001135058.1:c.1491_1493del	NP_001128530.1:p.Ser498del
NM_004086.2:c.1491_1493del	NP_004077.1:p.Ser498del
NR_038356.1:n.178_180del
XM_011536539.1:c.1491_1493del	XP_011534841.1:p.Ser498del
NM_001347720.1:c.1686_1688del	NP_001334649.1:p.Ser563del
XM_017021071.1:c.1686_1688del	XP_016876560.1:p.Ser563del
XM_024449506.1:c.1548_1550del	XP_024305274.1:p.Ser517del
NM_004086.3:c.1491_1493del MANE Select	NP_004077.1:p.Ser498del
NM_001135058.2:c.1491_1493del	NP_001128530.1:p.Ser498del
NM_001347720.2:c.1686_1688del	NP_001334649.1:p.Ser563del