Canonical Allele Identifier: CA2639746991

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919533-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919537del , CM000679.2:g.74919537del	GRCh38
NC_000017.10:g.72915632del , CM000679.1:g.72915632del	GRCh37
NC_000017.9:g.70427227del	NCBI36
NG_007882.1:g.8723del
NG_033062.1:g.263del
NG_007882.2:g.8730del
NG_033062.2:g.263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1302del MANE Select	ENSP00000480279.1:p.Arg436GlufsTer8
ENST00000579243.1:c.*901del	ENSP00000462568.1:n.*901del
ENST00000614341.4:c.1302del	ENSP00000480279.1:p.Arg436GlufsTer8
NM_001282489.2:c.993del	NP_001269418.1:p.Arg333GlufsTer8
NM_173477.4:c.1302del	NP_775748.2:p.Arg436GlufsTer8
XM_011524296.1:c.993del	XP_011522598.1:p.Arg333GlufsTer8
XM_011524296.2:c.993del	XP_011522598.1:p.Arg333GlufsTer8
NM_173477.5:c.1302del MANE Select	NP_775748.2:p.Arg436GlufsTer8
NM_001282489.3:c.993del	NP_001269418.1:p.Arg333GlufsTer8