Canonical Allele Identifier: CA2801046385
Gene: COCH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30878990_30878991insCCAAACACACCCAACAC , CM000676.2:g.30878990_30878991insCCAAACACACCCAACAC GRCh38
NC_000014.8:g.31348196_31348197insCCAAACACACCCAACAC , CM000676.1:g.31348196_31348197insCCAAACACACCCAACAC GRCh37
NC_000014.7:g.30417947_30417948insCCAAACACACCCAACAC NCBI36
NG_008211.2:g.9456_9457insCCAAACACACCCAACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000216361.9:c.568+46_568+47insCCAAACACACCCAACAC ENSP00000216361.5:n.568+46_568+47insCCAAACACACCCAACAC
ENST00000396618.9:c.373+46_373+47insCCAAACACACCCAACAC MANE Select ENSP00000379862.3:n.373+46_373+47insCCAAACACACCCAACAC
ENST00000555117.2:c.373+46_373+47insCCAAACACACCCAACAC ENSP00000493569.1:n.373+46_373+47insCCAAACACACCCAACAC
ENST00000643575.1:c.373+46_373+47insCCAAACACACCCAACAC ENSP00000494838.1:n.373+46_373+47insCCAAACACACCCAACAC
ENST00000643697.1:n.618+46_618+47insCCAAACACACCCAACAC
ENST00000644874.2:c.373+46_373+47insCCAAACACACCCAACAC ENSP00000496360.1:n.373+46_373+47insCCAAACACACCCAACAC
ENST00000216361.8:c.373+46_373+47insCCAAACACACCCAACAC ENSP00000216361.4:n.373+46_373+47insCCAAACACACCCAACAC
ENST00000396618.7:c.373+46_373+47insCCAAACACACCCAACAC ENSP00000379862.3:n.373+46_373+47insCCAAACACACCCAACAC
ENST00000460581.6:c.37+46_37+47insCCAAACACACCCAACAC ENSP00000451713.1:n.37+46_37+47insCCAAACACACCCAACAC
ENST00000475087.5:c.373+46_373+47insCCAAACACACCCAACAC ENSP00000451528.1:n.373+46_373+47insCCAAACACACCCAACAC
ENST00000553772.5:c.239+1262_239+1263insCCAAACACACCCAACAC ENSP00000452343.1:n.239+1262_239+1263insCCAAACACACCCAACAC
ENST00000553833.5:n.527+46_527+47insCCAAACACACCCAACAC
ENST00000555881.5:c.83-1462_83-1461insCCAAACACACCCAACAC ENSP00000452569.1:n.83-1462_83-1461insCCAAACACACCCAACAC
ENST00000556908.5:c.325+46_325+47insCCAAACACACCCAACAC ENSP00000452541.1:n.325+46_325+47insCCAAACACACCCAACAC
ENST00000557065.1:c.156-433_156-432insCCAAACACACCCAACAC ENSP00000451629.1:n.156-433_156-432insCCAAACACACCCAACAC
NM_001135058.1:c.373+46_373+47insCCAAACACACCCAACAC NP_001128530.1:n.373+46_373+47insCCAAACACACCCAACAC
NM_004086.2:c.373+46_373+47insCCAAACACACCCAACAC NP_004077.1:n.373+46_373+47insCCAAACACACCCAACAC
NR_038356.1:n.1618-2438_1618-2437insTGTTGGGTGTGTTTGGG
XM_011536539.1:c.373+46_373+47insCCAAACACACCCAACAC XP_011534841.1:n.373+46_373+47insCCAAACACACCCAACAC
NM_001347720.1:c.568+46_568+47insCCAAACACACCCAACAC NP_001334649.1:n.568+46_568+47insCCAAACACACCCAACAC
XM_017021071.1:c.568+46_568+47insCCAAACACACCCAACAC XP_016876560.1:n.568+46_568+47insCCAAACACACCCAACAC
XM_024449506.1:c.373+46_373+47insCCAAACACACCCAACAC XP_024305274.1:n.373+46_373+47insCCAAACACACCCAACAC
NM_004086.3:c.373+46_373+47insCCAAACACACCCAACAC MANE Select NP_004077.1:n.373+46_373+47insCCAAACACACCCAACAC
NM_001135058.2:c.373+46_373+47insCCAAACACACCCAACAC NP_001128530.1:n.373+46_373+47insCCAAACACACCCAACAC
NM_001347720.2:c.568+46_568+47insCCAAACACACCCAACAC NP_001334649.1:n.568+46_568+47insCCAAACACACCCAACAC