Canonical Allele Identifier: CA2126961282

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30890191_30890204delinsAGAGAAACTTAAAT , CM000676.2:g.30890191_30890204delinsAGAGAAACTTAAAT	GRCh38
NC_000014.8:g.31359397_31359410delinsAGAGAAACTTAAAT , CM000676.1:g.31359397_31359410delinsAGAGAAACTTAAAT	GRCh37
NC_000014.7:g.30429148_30429161delinsAGAGAAACTTAAAT	NCBI36
NG_008211.2:g.20657_20670delinsAGAGAAACTTAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396618.9:c.*400_*413delinsAGAGAAACTTAAAT MANE Select	ENSP00000379862.3:n.*400_*413delinsAGAGAAACTTAAAT
ENST00000555117.2:c.1534+3879_1534+3892delinsAGAGAAACTTAAAT	ENSP00000493569.1:n.1534+3879_1534+3892delinsAGAGAAACTTAAAT
ENST00000643575.1:c.*2+398_*2+411delinsAGAGAAACTTAAAT	ENSP00000494838.1:n.*2+398_*2+411delinsAGAGAAACTTAAAT
ENST00000644874.2:c.*400_*413delinsAGAGAAACTTAAAT	ENSP00000496360.1:n.*400_*413delinsAGAGAAACTTAAAT
ENST00000396618.7:c.*400_*413delinsAGAGAAACTTAAAT	ENSP00000379862.3:n.*400_*413delinsAGAGAAACTTAAAT
ENST00000460581.6:c.*400_*413delinsAGAGAAACTTAAAT	ENSP00000451713.1:n.*400_*413delinsAGAGAAACTTAAAT
ENST00000468826.2:c.1704_1717delinsAGAGAAACTTAAAT
ENST00000475087.5:c.1477+3879_1477+3892delinsAGAGAAACTTAAAT	ENSP00000451528.1:n.1477+3879_1477+3892delinsAGAGAAACTTAAAT
NM_001135058.1:c.*400_*413delinsAGAGAAACTTAAAT	NP_001128530.1:n.*400_*413delinsAGAGAAACTTAAAT
NM_004086.2:c.*400_*413delinsAGAGAAACTTAAAT	NP_004077.1:n.*400_*413delinsAGAGAAACTTAAAT
XM_011536539.1:c.*2+398_*2+411delinsAGAGAAACTTAAAT	XP_011534841.1:n.*2+398_*2+411delinsAGAGAAACTTAAAT
NM_001347720.1:c.*400_*413delinsAGAGAAACTTAAAT	NP_001334649.1:n.*400_*413delinsAGAGAAACTTAAAT
XM_017021071.1:c.*400_*413delinsAGAGAAACTTAAAT	XP_016876560.1:n.*400_*413delinsAGAGAAACTTAAAT
XM_024449506.1:c.*400_*413delinsAGAGAAACTTAAAT	XP_024305274.1:n.*400_*413delinsAGAGAAACTTAAAT
NM_004086.3:c.*400_*413delinsAGAGAAACTTAAAT MANE Select	NP_004077.1:n.*400_*413delinsAGAGAAACTTAAAT
NM_001135058.2:c.*400_*413delinsAGAGAAACTTAAAT	NP_001128530.1:n.*400_*413delinsAGAGAAACTTAAAT
NM_001347720.2:c.*400_*413delinsAGAGAAACTTAAAT	NP_001334649.1:n.*400_*413delinsAGAGAAACTTAAAT