Canonical Allele Identifier: CA2275255325

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919896_74919899delinsTGCC , CM000679.2:g.74919896_74919899delinsTGCC	GRCh38
NC_000017.10:g.72915991_72915994delinsTGCC , CM000679.1:g.72915991_72915994delinsTGCC	GRCh37
NC_000017.9:g.70427586_70427589delinsTGCC	NCBI36
NG_007882.1:g.8358_8361delinsGGCA
NG_033062.1:g.622_625delinsTGCC
NG_007882.2:g.8365_8368delinsGGCA
NG_033062.2:g.622_625delinsTGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.937_940delinsGGCA MANE Select	ENSP00000480279.1:p.Gly313=
ENST00000579243.1:c.*536_*539delinsGGCA	ENSP00000462568.1:n.*536_*539delinsGGCA
ENST00000614341.4:c.937_940delinsGGCA	ENSP00000480279.1:p.Gly313=
NM_001282489.2:c.628_631delinsGGCA	NP_001269418.1:p.Gly210=
NM_173477.4:c.937_940delinsGGCA	NP_775748.2:p.Gly313=
XM_011524296.1:c.628_631delinsGGCA	XP_011522598.1:p.Gly210=
XM_011524296.2:c.628_631delinsGGCA	XP_011522598.1:p.Gly210=
NM_173477.5:c.937_940delinsGGCA MANE Select	NP_775748.2:p.Gly313=
NM_001282489.3:c.628_631delinsGGCA	NP_001269418.1:p.Gly210=