Canonical Allele Identifier: CA2573054573

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1323745
• ClinVar RCV Id: RCV001785119
• dbSNP Id: rs2144754031
• gnomAD v4: 17-74920124-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920127del , CM000679.2:g.74920127del	GRCh38
NC_000017.10:g.72916222del , CM000679.1:g.72916222del	GRCh37
NC_000017.9:g.70427817del	NCBI36
NG_007882.1:g.8132del
NG_033062.1:g.853del
NG_007882.2:g.8139del
NG_033062.2:g.853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.711del MANE Select	ENSP00000480279.1:p.Arg238AlafsTer16
ENST00000579243.1:c.*310del	ENSP00000462568.1:n.*310del
ENST00000614341.4:c.711del	ENSP00000480279.1:p.Arg238AlafsTer16
NM_001282489.2:c.402del	NP_001269418.1:p.Arg135AlafsTer16
NM_173477.4:c.711del	NP_775748.2:p.Arg238AlafsTer16
XM_011524296.1:c.402del	XP_011522598.1:p.Arg135AlafsTer16
XM_011524296.2:c.402del	XP_011522598.1:p.Arg135AlafsTer16
NM_173477.5:c.711del MANE Select	NP_775748.2:p.Arg238AlafsTer16
NM_001282489.3:c.402del	NP_001269418.1:p.Arg135AlafsTer16