Canonical Allele Identifier: CA2734173821

Gene: USH1G

Linked Data

• dbSNP Id: rs2144753372

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919915_74919921del , CM000679.2:g.74919915_74919921del	GRCh38
NC_000017.10:g.72916010_72916016del , CM000679.1:g.72916010_72916016del	GRCh37
NC_000017.9:g.70427605_70427611del	NCBI36
NG_007882.1:g.8336_8342del
NG_033062.1:g.641_647del
NG_007882.2:g.8343_8349del
NG_033062.2:g.641_647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.915_921del MANE Select	ENSP00000480279.1:p.Leu306ProfsTer15
ENST00000579243.1:c.*514_*520del	ENSP00000462568.1:n.*514_*520del
ENST00000614341.4:c.915_921del	ENSP00000480279.1:p.Leu306ProfsTer15
NM_001282489.2:c.606_612del	NP_001269418.1:p.Leu203ProfsTer15
NM_173477.4:c.915_921del	NP_775748.2:p.Leu306ProfsTer15
XM_011524296.1:c.606_612del	XP_011522598.1:p.Leu203ProfsTer15
XM_011524296.2:c.606_612del	XP_011522598.1:p.Leu203ProfsTer15
NM_173477.5:c.915_921del MANE Select	NP_775748.2:p.Leu306ProfsTer15
NM_001282489.3:c.606_612del	NP_001269418.1:p.Leu203ProfsTer15