Canonical Allele Identifier: CA2576121643

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920203_74920204insGCC , CM000679.2:g.74920203_74920204insGCC	GRCh38
NC_000017.10:g.72916298_72916299insGCC , CM000679.1:g.72916298_72916299insGCC	GRCh37
NC_000017.9:g.70427893_70427894insGCC	NCBI36
NG_007882.1:g.8055_8056insCGG
NG_033062.1:g.929_930insGCC
NG_007882.2:g.8062_8063insCGG
NG_033062.2:g.929_930insGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.634_635insCGG MANE Select	ENSP00000480279.1:p.Arg211_Gly212insAla
ENST00000579243.1:c.*233_*234insCGG	ENSP00000462568.1:n.*233_*234insCGG
ENST00000614341.4:c.634_635insCGG	ENSP00000480279.1:p.Arg211_Gly212insAla
NM_001282489.2:c.325_326insCGG	NP_001269418.1:p.Arg108_Gly109insAla
NM_173477.4:c.634_635insCGG	NP_775748.2:p.Arg211_Gly212insAla
XM_011524296.1:c.325_326insCGG	XP_011522598.1:p.Arg108_Gly109insAla
XM_011524296.2:c.325_326insCGG	XP_011522598.1:p.Arg108_Gly109insAla
NM_173477.5:c.634_635insCGG MANE Select	NP_775748.2:p.Arg211_Gly212insAla
NM_001282489.3:c.325_326insCGG	NP_001269418.1:p.Arg108_Gly109insAla