Canonical Allele Identifier: CA2739268362

Gene: USH1G

Linked Data

• ClinVar Variation Id: 2834574
• ClinVar RCV Id: RCV003694558

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919539del , CM000679.2:g.74919539del	GRCh38
NC_000017.10:g.72915634del , CM000679.1:g.72915634del	GRCh37
NC_000017.9:g.70427229del	NCBI36
NG_007882.1:g.8718del
NG_033062.1:g.265del
NG_007882.2:g.8725del
NG_033062.2:g.265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1297del MANE Select	ENSP00000480279.1:p.Leu433TrpfsTer11
ENST00000579243.1:c.*896del	ENSP00000462568.1:n.*896del
ENST00000614341.4:c.1297del	ENSP00000480279.1:p.Leu433TrpfsTer11
NM_001282489.2:c.988del	NP_001269418.1:p.Leu330TrpfsTer11
NM_173477.4:c.1297del	NP_775748.2:p.Leu433TrpfsTer11
XM_011524296.1:c.988del	XP_011522598.1:p.Leu330TrpfsTer11
XM_011524296.2:c.988del	XP_011522598.1:p.Leu330TrpfsTer11
NM_173477.5:c.1297del MANE Select	NP_775748.2:p.Leu433TrpfsTer11
NM_001282489.3:c.988del	NP_001269418.1:p.Leu330TrpfsTer11