Canonical Allele Identifier: CA2639748101

Gene: USH1G

Linked Data

• gnomAD v4: 17-74920166-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920167del , CM000679.2:g.74920167del	GRCh38
NC_000017.10:g.72916262del , CM000679.1:g.72916262del	GRCh37
NC_000017.9:g.70427857del	NCBI36
NG_007882.1:g.8090del
NG_033062.1:g.893del
NG_007882.2:g.8097del
NG_033062.2:g.893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.669del MANE Select	ENSP00000480279.1:p.Lys224SerfsTer?
ENST00000579243.1:c.*268del	ENSP00000462568.1:n.*268del
ENST00000614341.4:c.669del	ENSP00000480279.1:p.Lys224SerfsTer?
NM_001282489.2:c.360del	NP_001269418.1:p.Lys121SerfsTer?
NM_173477.4:c.669del	NP_775748.2:p.Lys224SerfsTer?
XM_011524296.1:c.360del	XP_011522598.1:p.Lys121SerfsTer?
XM_011524296.2:c.360del	XP_011522598.1:p.Lys121SerfsTer?
NM_173477.5:c.669del MANE Select	NP_775748.2:p.Lys224SerfsTer?
NM_001282489.3:c.360del	NP_001269418.1:p.Lys121SerfsTer?