Canonical Allele Identifier: CA2275255251

Gene: USH1G

Linked Data

• dbSNP Id: rs2038911936

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919772_74919786dup , CM000679.2:g.74919772_74919786dup	GRCh38
NC_000017.10:g.72915867_72915881dup , CM000679.1:g.72915867_72915881dup	GRCh37
NC_000017.9:g.70427462_70427476dup	NCBI36
NG_007882.1:g.8479_8493dup
NG_033062.1:g.498_512dup
NG_007882.2:g.8486_8500dup
NG_033062.2:g.498_512dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1058_1072dup MANE Select	ENSP00000480279.1:p.Leu357_Gly358insAspAspAspSerLeu
ENST00000579243.1:c.*657_*671dup	ENSP00000462568.1:n.*657_*671dup
ENST00000614341.4:c.1058_1072dup	ENSP00000480279.1:p.Leu357_Gly358insAspAspAspSerLeu
NM_001282489.2:c.749_763dup	NP_001269418.1:p.Leu254_Gly255insAspAspAspSerLeu
NM_173477.4:c.1058_1072dup	NP_775748.2:p.Leu357_Gly358insAspAspAspSerLeu
XM_011524296.1:c.749_763dup	XP_011522598.1:p.Leu254_Gly255insAspAspAspSerLeu
XM_011524296.2:c.749_763dup	XP_011522598.1:p.Leu254_Gly255insAspAspAspSerLeu
NM_173477.5:c.1058_1072dup MANE Select	NP_775748.2:p.Leu357_Gly358insAspAspAspSerLeu
NM_001282489.3:c.749_763dup	NP_001269418.1:p.Leu254_Gly255insAspAspAspSerLeu