Canonical Allele Identifier: CA986277659

Gene: USH1G

Linked Data

• dbSNP Id: rs2038915393
• gnomAD v3: 17-74919903-GCCGGGGCGGGTAA-G
• gnomAD v4: 17-74919903-GCCGGGGCGGGTAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919904_74919916del , CM000679.2:g.74919904_74919916del	GRCh38
NC_000017.10:g.72915999_72916011del , CM000679.1:g.72915999_72916011del	GRCh37
NC_000017.9:g.70427594_70427606del	NCBI36
NG_007882.1:g.8341_8353del
NG_033062.1:g.630_642del
NG_007882.2:g.8348_8360del
NG_033062.2:g.630_642del

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.920_932del MANE Select	ENSP00000480279.1:p.Phe307SerfsTer12
ENST00000579243.1:c.*519_*531del	ENSP00000462568.1:n.*519_*531del
ENST00000614341.4:c.920_932del	ENSP00000480279.1:p.Phe307SerfsTer12
NM_001282489.2:c.611_623del	NP_001269418.1:p.Phe204SerfsTer12
NM_173477.4:c.920_932del	NP_775748.2:p.Phe307SerfsTer12
XM_011524296.1:c.611_623del	XP_011522598.1:p.Phe204SerfsTer12
XM_011524296.2:c.611_623del	XP_011522598.1:p.Phe204SerfsTer12
NM_173477.5:c.920_932del MANE Select	NP_775748.2:p.Phe307SerfsTer12
NM_001282489.3:c.611_623del	NP_001269418.1:p.Phe204SerfsTer12