Canonical Allele Identifier: CA2639747147

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919672-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919673del , CM000679.2:g.74919673del	GRCh38
NC_000017.10:g.72915768del , CM000679.1:g.72915768del	GRCh37
NC_000017.9:g.70427363del	NCBI36
NG_007882.1:g.8584del
NG_033062.1:g.399del
NG_007882.2:g.8591del
NG_033062.2:g.399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1163del MANE Select	ENSP00000480279.1:p.Glu388GlyfsTer?
ENST00000579243.1:c.*762del	ENSP00000462568.1:n.*762del
ENST00000614341.4:c.1163del	ENSP00000480279.1:p.Glu388GlyfsTer?
NM_001282489.2:c.854del	NP_001269418.1:p.Glu285GlyfsTer?
NM_173477.4:c.1163del	NP_775748.2:p.Glu388GlyfsTer?
XM_011524296.1:c.854del	XP_011522598.1:p.Glu285GlyfsTer?
XM_011524296.2:c.854del	XP_011522598.1:p.Glu285GlyfsTer?
NM_173477.5:c.1163del MANE Select	NP_775748.2:p.Glu388GlyfsTer?
NM_001282489.3:c.854del	NP_001269418.1:p.Glu285GlyfsTer?