Canonical Allele Identifier: CA961586954

Gene: COCH

Linked Data

• dbSNP Id: rs1895915168
• gnomAD v3: 14-30889651-CCTCTGGATGACCTG-C
• gnomAD v4: 14-30889651-CCTCTGGATGACCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889652_30889665del , CM000676.2:g.30889652_30889665del	GRCh38
NC_000014.8:g.31358858_31358871del , CM000676.1:g.31358858_31358871del	GRCh37
NC_000014.7:g.30428609_30428622del	NCBI36
NG_008211.2:g.20118_20131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1709_1722del	ENSP00000216361.5:p.Pro570GlnfsTer6
ENST00000396618.9:c.1514_1527del MANE Select	ENSP00000379862.3:p.Pro505GlnfsTer6
ENST00000555117.2:c.1534+3340_1534+3353del	ENSP00000493569.1:n.1534+3340_1534+3353del
ENST00000643575.1:c.1514_1527del	ENSP00000494838.1:p.Pro505GlnfsTer6
ENST00000643697.1:n.1816_1829del
ENST00000644874.2:c.1514_1527del	ENSP00000496360.1:p.Pro505GlnfsTer6
ENST00000216361.8:c.1514_1527del	ENSP00000216361.4:p.Pro505GlnfsTer6
ENST00000396618.7:c.1514_1527del	ENSP00000379862.3:p.Pro505GlnfsTer6
ENST00000460581.6:c.1178_1191del	ENSP00000451713.1:p.Pro393GlnfsTer6
ENST00000468826.2:c.1165_1178del
ENST00000475087.5:c.1477+3340_1477+3353del	ENSP00000451528.1:n.1477+3340_1477+3353del
NM_001135058.1:c.1514_1527del	NP_001128530.1:p.Pro505GlnfsTer6
NM_004086.2:c.1514_1527del	NP_004077.1:p.Pro505GlnfsTer6
NR_038356.1:n.144_157del
XM_011536539.1:c.1514_1527del	XP_011534841.1:p.Pro505GlnfsTer6
NM_001347720.1:c.1709_1722del	NP_001334649.1:p.Pro570GlnfsTer6
XM_017021071.1:c.1709_1722del	XP_016876560.1:p.Pro570GlnfsTer6
XM_024449506.1:c.1571_1584del	XP_024305274.1:p.Pro524GlnfsTer6
NM_004086.3:c.1514_1527del MANE Select	NP_004077.1:p.Pro505GlnfsTer6
NM_001135058.2:c.1514_1527del	NP_001128530.1:p.Pro505GlnfsTer6
NM_001347720.2:c.1709_1722del	NP_001334649.1:p.Pro570GlnfsTer6