Canonical Allele Identifier: CA2573154821

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1452359
• ClinVar RCV Id: RCV001999766
• dbSNP Id: rs2144753776
• gnomAD v4: 17-74920052-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920053del , CM000679.2:g.74920053del	GRCh38
NC_000017.10:g.72916148del , CM000679.1:g.72916148del	GRCh37
NC_000017.9:g.70427743del	NCBI36
NG_007882.1:g.8204del
NG_033062.1:g.779del
NG_007882.2:g.8211del
NG_033062.2:g.779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.783del MANE Select	ENSP00000480279.1:p.Tyr261Ter
ENST00000579243.1:c.*382del	ENSP00000462568.1:n.*382del
ENST00000614341.4:c.783del	ENSP00000480279.1:p.Tyr261Ter
NM_001282489.2:c.474del	NP_001269418.1:p.Tyr158Ter
NM_173477.4:c.783del	NP_775748.2:p.Tyr261Ter
XM_011524296.1:c.474del	XP_011522598.1:p.Tyr158Ter
XM_011524296.2:c.474del	XP_011522598.1:p.Tyr158Ter
NM_173477.5:c.783del MANE Select	NP_775748.2:p.Tyr261Ter
NM_001282489.3:c.474del	NP_001269418.1:p.Tyr158Ter