Canonical Allele Identifier: CA913190613

Gene: USH1G

Linked Data

• ClinVar Variation Id: 631786
• ClinVar RCV Id: RCV000778514
• dbSNP Id: rs1567940040
• gnomAD v4: 17-74920191-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920193del , CM000679.2:g.74920193del	GRCh38
NC_000017.10:g.72916288del , CM000679.1:g.72916288del	GRCh37
NC_000017.9:g.70427883del	NCBI36
NG_007882.1:g.8065del
NG_033062.1:g.919del
NG_007882.2:g.8072del
NG_033062.2:g.919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.644del MANE Select	ENSP00000480279.1:p.Lys215ArgfsTer?
ENST00000579243.1:c.*243del	ENSP00000462568.1:n.*243del
ENST00000614341.4:c.644del	ENSP00000480279.1:p.Lys215ArgfsTer?
NM_001282489.2:c.335del	NP_001269418.1:p.Lys112ArgfsTer?
NM_173477.4:c.644del	NP_775748.2:p.Lys215ArgfsTer?
XM_011524296.1:c.335del	XP_011522598.1:p.Lys112ArgfsTer?
XM_011524296.2:c.335del	XP_011522598.1:p.Lys112ArgfsTer?
NM_173477.5:c.644del MANE Select	NP_775748.2:p.Lys215ArgfsTer?
NM_001282489.3:c.335del	NP_001269418.1:p.Lys112ArgfsTer?