Canonical Allele Identifier: CA2126951071
Gene: COCH HGNC NCBI

Linked Data

dbSNP Id: rs1895481795

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30879194del , CM000676.2:g.30879194del GRCh38
NC_000014.8:g.31348400del , CM000676.1:g.31348400del GRCh37
NC_000014.7:g.30418151del NCBI36
NG_008211.2:g.9660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216361.9:c.569-229del ENSP00000216361.5:n.569-229del
ENST00000396618.9:c.374-229del MANE Select ENSP00000379862.3:n.374-229del
ENST00000555117.2:c.374-229del ENSP00000493569.1:n.374-229del
ENST00000643575.1:c.374-229del ENSP00000494838.1:n.374-229del
ENST00000643697.1:n.619-229del
ENST00000644874.2:c.374-229del ENSP00000496360.1:n.374-229del
ENST00000216361.8:c.374-229del ENSP00000216361.4:n.374-229del
ENST00000396618.7:c.374-229del ENSP00000379862.3:n.374-229del
ENST00000460581.6:c.38-229del ENSP00000451713.1:n.38-229del
ENST00000475087.5:c.374-229del ENSP00000451528.1:n.374-229del
ENST00000553772.5:c.240-1258del ENSP00000452343.1:n.240-1258del
ENST00000553833.5:n.528-229del
ENST00000555881.5:c.83-1258del ENSP00000452569.1:n.83-1258del
ENST00000556908.5:c.326-229del ENSP00000452541.1:n.326-229del
ENST00000557065.1:c.156-229del ENSP00000451629.1:n.156-229del
NM_001135058.1:c.374-229del NP_001128530.1:n.374-229del
NM_004086.2:c.374-229del NP_004077.1:n.374-229del
NR_038356.1:n.1618-2640del
XM_011536539.1:c.374-229del XP_011534841.1:n.374-229del
NM_001347720.1:c.569-229del NP_001334649.1:n.569-229del
XM_017021071.1:c.569-229del XP_016876560.1:n.569-229del
XM_024449506.1:c.374-229del XP_024305274.1:n.374-229del
NM_004086.3:c.374-229del MANE Select NP_004077.1:n.374-229del
NM_001135058.2:c.374-229del NP_001128530.1:n.374-229del
NM_001347720.2:c.569-229del NP_001334649.1:n.569-229del