Canonical Allele Identifier: CA2639747154

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919705-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919706del , CM000679.2:g.74919706del	GRCh38
NC_000017.10:g.72915801del , CM000679.1:g.72915801del	GRCh37
NC_000017.9:g.70427396del	NCBI36
NG_007882.1:g.8551del
NG_033062.1:g.432del
NG_007882.2:g.8558del
NG_033062.2:g.432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1130del MANE Select	ENSP00000480279.1:p.Leu377ProfsTer3
ENST00000579243.1:c.*729del	ENSP00000462568.1:n.*729del
ENST00000614341.4:c.1130del	ENSP00000480279.1:p.Leu377ProfsTer3
NM_001282489.2:c.821del	NP_001269418.1:p.Leu274ProfsTer3
NM_173477.4:c.1130del	NP_775748.2:p.Leu377ProfsTer3
XM_011524296.1:c.821del	XP_011522598.1:p.Leu274ProfsTer3
XM_011524296.2:c.821del	XP_011522598.1:p.Leu274ProfsTer3
NM_173477.5:c.1130del MANE Select	NP_775748.2:p.Leu377ProfsTer3
NM_001282489.3:c.821del	NP_001269418.1:p.Leu274ProfsTer3