Canonical Allele Identifier: CA961586967

Gene: COCH

Linked Data

• dbSNP Id: rs1895915729
• gnomAD v3: 14-30889667-A-AC
• gnomAD v4: 14-30889667-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889667_30889668insC , CM000676.2:g.30889667_30889668insC	GRCh38
NC_000014.8:g.31358873_31358874insC , CM000676.1:g.31358873_31358874insC	GRCh37
NC_000014.7:g.30428624_30428625insC	NCBI36
NG_008211.2:g.20133_20134insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.1724_1725insC	ENSP00000216361.5:p.Lys575AsnfsTer6
ENST00000396618.9:c.1529_1530insC MANE Select	ENSP00000379862.3:p.Lys510AsnfsTer6
ENST00000555117.2:c.1534+3355_1534+3356insC	ENSP00000493569.1:n.1534+3355_1534+3356insC
ENST00000643575.1:c.1529_1530insC	ENSP00000494838.1:p.Lys510AsnfsTer6
ENST00000643697.1:n.1831_1832insC
ENST00000644874.2:c.1529_1530insC	ENSP00000496360.1:p.Lys510AsnfsTer6
ENST00000216361.8:c.1529_1530insC	ENSP00000216361.4:p.Lys510AsnfsTer6
ENST00000396618.7:c.1529_1530insC	ENSP00000379862.3:p.Lys510AsnfsTer6
ENST00000460581.6:c.1193_1194insC	ENSP00000451713.1:p.Lys398AsnfsTer6
ENST00000468826.2:c.1180_1181insC
ENST00000475087.5:c.1477+3355_1477+3356insC	ENSP00000451528.1:n.1477+3355_1477+3356insC
NM_001135058.1:c.1529_1530insC	NP_001128530.1:p.Lys510AsnfsTer6
NM_004086.2:c.1529_1530insC	NP_004077.1:p.Lys510AsnfsTer6
NR_038356.1:n.141_142insG
XM_011536539.1:c.1529_1530insC	XP_011534841.1:p.Lys510AsnfsTer6
NM_001347720.1:c.1724_1725insC	NP_001334649.1:p.Lys575AsnfsTer6
XM_017021071.1:c.1724_1725insC	XP_016876560.1:p.Lys575AsnfsTer6
XM_024449506.1:c.1586_1587insC	XP_024305274.1:p.Lys529AsnfsTer6
NM_004086.3:c.1529_1530insC MANE Select	NP_004077.1:p.Lys510AsnfsTer6
NM_001135058.2:c.1529_1530insC	NP_001128530.1:p.Lys510AsnfsTer6
NM_001347720.2:c.1724_1725insC	NP_001334649.1:p.Lys575AsnfsTer6