Canonical Allele Identifier: CA2810423864

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919538_74919539dup , CM000679.2:g.74919538_74919539dup	GRCh38
NC_000017.10:g.72915633_72915634dup , CM000679.1:g.72915633_72915634dup	GRCh37
NC_000017.9:g.70427228_70427229dup	NCBI36
NG_007882.1:g.8718_8719dup
NG_033062.1:g.264_265dup
NG_007882.2:g.8725_8726dup
NG_033062.2:g.264_265dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1297_1298dup MANE Select	ENSP00000480279.1:p.Gly434TrpfsTer11
ENST00000579243.1:c.*896_*897dup	ENSP00000462568.1:n.*896_*897dup
ENST00000614341.4:c.1297_1298dup	ENSP00000480279.1:p.Gly434TrpfsTer11
NM_001282489.2:c.988_989dup	NP_001269418.1:p.Gly331TrpfsTer11
NM_173477.4:c.1297_1298dup	NP_775748.2:p.Gly434TrpfsTer11
XM_011524296.1:c.988_989dup	XP_011522598.1:p.Gly331TrpfsTer11
XM_011524296.2:c.988_989dup	XP_011522598.1:p.Gly331TrpfsTer11
NM_173477.5:c.1297_1298dup MANE Select	NP_775748.2:p.Gly434TrpfsTer11
NM_001282489.3:c.988_989dup	NP_001269418.1:p.Gly331TrpfsTer11