Canonical Allele Identifier: CA2573154822

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1459236
• ClinVar RCV Id: RCV001958905
• dbSNP Id: rs2144754179

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920171del , CM000679.2:g.74920171del	GRCh38
NC_000017.10:g.72916266del , CM000679.1:g.72916266del	GRCh37
NC_000017.9:g.70427861del	NCBI36
NG_007882.1:g.8087del
NG_033062.1:g.897del
NG_007882.2:g.8094del
NG_033062.2:g.897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.666del MANE Select	ENSP00000480279.1:p.Arg223AlafsTer?
ENST00000579243.1:c.*265del	ENSP00000462568.1:n.*265del
ENST00000614341.4:c.666del	ENSP00000480279.1:p.Arg223AlafsTer?
NM_001282489.2:c.357del	NP_001269418.1:p.Arg120AlafsTer?
NM_173477.4:c.666del	NP_775748.2:p.Arg223AlafsTer?
XM_011524296.1:c.357del	XP_011522598.1:p.Arg120AlafsTer?
XM_011524296.2:c.357del	XP_011522598.1:p.Arg120AlafsTer?
NM_173477.5:c.666del MANE Select	NP_775748.2:p.Arg223AlafsTer?
NM_001282489.3:c.357del	NP_001269418.1:p.Arg120AlafsTer?