Canonical Allele Identifier: CA2275255488

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920191_74920192delinsCT , CM000679.2:g.74920191_74920192delinsCT	GRCh38
NC_000017.10:g.72916286_72916287delinsCT , CM000679.1:g.72916286_72916287delinsCT	GRCh37
NC_000017.9:g.70427881_70427882delinsCT	NCBI36
NG_007882.1:g.8065_8066delinsAG
NG_033062.1:g.917_918delinsCT
NG_007882.2:g.8072_8073delinsAG
NG_033062.2:g.917_918delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.644_645delinsAG MANE Select	ENSP00000480279.1:p.Lys215=
ENST00000579243.1:c.*243_*244delinsAG	ENSP00000462568.1:n.*243_*244delinsAG
ENST00000614341.4:c.644_645delinsAG	ENSP00000480279.1:p.Lys215=
NM_001282489.2:c.335_336delinsAG	NP_001269418.1:p.Lys112=
NM_173477.4:c.644_645delinsAG	NP_775748.2:p.Lys215=
XM_011524296.1:c.335_336delinsAG	XP_011522598.1:p.Lys112=
XM_011524296.2:c.335_336delinsAG	XP_011522598.1:p.Lys112=
NM_173477.5:c.644_645delinsAG MANE Select	NP_775748.2:p.Lys215=
NM_001282489.3:c.335_336delinsAG	NP_001269418.1:p.Lys112=