Canonical Allele Identifier: CA2275255197

Gene: USH1G

Linked Data

• dbSNP Id: rs2038909630

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919662del , CM000679.2:g.74919662del	GRCh38
NC_000017.10:g.72915757del , CM000679.1:g.72915757del	GRCh37
NC_000017.9:g.70427352del	NCBI36
NG_007882.1:g.8595del
NG_033062.1:g.388del
NG_007882.2:g.8602del
NG_033062.2:g.388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1174del MANE Select	ENSP00000480279.1:p.Leu392TrpfsTer27
ENST00000579243.1:c.*773del	ENSP00000462568.1:n.*773del
ENST00000614341.4:c.1174del	ENSP00000480279.1:p.Leu392TrpfsTer27
NM_001282489.2:c.865del	NP_001269418.1:p.Leu289TrpfsTer27
NM_173477.4:c.1174del	NP_775748.2:p.Leu392TrpfsTer27
XM_011524296.1:c.865del	XP_011522598.1:p.Leu289TrpfsTer27
XM_011524296.2:c.865del	XP_011522598.1:p.Leu289TrpfsTer27
NM_173477.5:c.1174del MANE Select	NP_775748.2:p.Leu392TrpfsTer27
NM_001282489.3:c.865del	NP_001269418.1:p.Leu289TrpfsTer27