Canonical Allele Identifier: CA2639747148

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919674-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919674_74919675insAA , CM000679.2:g.74919674_74919675insAA	GRCh38
NC_000017.10:g.72915769_72915770insAA , CM000679.1:g.72915769_72915770insAA	GRCh37
NC_000017.9:g.70427364_70427365insAA	NCBI36
NG_007882.1:g.8582_8583insTT
NG_033062.1:g.400_401insAA
NG_007882.2:g.8589_8590insTT
NG_033062.2:g.400_401insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1161_1162insTT MANE Select	ENSP00000480279.1:p.Glu388LeufsTer?
ENST00000579243.1:c.*760_*761insTT	ENSP00000462568.1:n.*760_*761insTT
ENST00000614341.4:c.1161_1162insTT	ENSP00000480279.1:p.Glu388LeufsTer?
NM_001282489.2:c.852_853insTT	NP_001269418.1:p.Glu285LeufsTer?
NM_173477.4:c.1161_1162insTT	NP_775748.2:p.Glu388LeufsTer?
XM_011524296.1:c.852_853insTT	XP_011522598.1:p.Glu285LeufsTer?
XM_011524296.2:c.852_853insTT	XP_011522598.1:p.Glu285LeufsTer?
NM_173477.5:c.1161_1162insTT MANE Select	NP_775748.2:p.Glu388LeufsTer?
NM_001282489.3:c.852_853insTT	NP_001269418.1:p.Glu285LeufsTer?