Canonical Allele Identifier: CA2639747710

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919981-ACGGGAGACGCTGTCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919984_74919999del , CM000679.2:g.74919984_74919999del	GRCh38
NC_000017.10:g.72916079_72916094del , CM000679.1:g.72916079_72916094del	GRCh37
NC_000017.9:g.70427674_70427689del	NCBI36
NG_007882.1:g.8260_8275del
NG_033062.1:g.710_725del
NG_007882.2:g.8267_8282del
NG_033062.2:g.710_725del

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.839_854del MANE Select	ENSP00000480279.1:p.Glu280ValfsTer?
ENST00000579243.1:c.*438_*453del	ENSP00000462568.1:n.*438_*453del
ENST00000614341.4:c.839_854del	ENSP00000480279.1:p.Glu280ValfsTer?
NM_001282489.2:c.530_545del	NP_001269418.1:p.Glu177ValfsTer?
NM_173477.4:c.839_854del	NP_775748.2:p.Glu280ValfsTer?
XM_011524296.1:c.530_545del	XP_011522598.1:p.Glu177ValfsTer?
XM_011524296.2:c.530_545del	XP_011522598.1:p.Glu177ValfsTer?
NM_173477.5:c.839_854del MANE Select	NP_775748.2:p.Glu280ValfsTer?
NM_001282489.3:c.530_545del	NP_001269418.1:p.Glu177ValfsTer?