Canonical Allele Identifier: CA2576383328
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920069del , CM000679.2:g.74920069del GRCh38
NC_000017.10:g.72916164del , CM000679.1:g.72916164del GRCh37
NC_000017.9:g.70427759del NCBI36
NG_007882.1:g.8188del
NG_033062.1:g.795del
NG_007882.2:g.8195del
NG_033062.2:g.795del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.767del MANE Select ENSP00000480279.1:p.Val256GlyfsTer?
ENST00000579243.1:c.*366del ENSP00000462568.1:n.*366del
ENST00000614341.4:c.767del ENSP00000480279.1:p.Val256GlyfsTer?
NM_001282489.2:c.458del NP_001269418.1:p.Val153GlyfsTer?
NM_173477.4:c.767del NP_775748.2:p.Val256GlyfsTer?
XM_011524296.1:c.458del XP_011522598.1:p.Val153GlyfsTer?
XM_011524296.2:c.458del XP_011522598.1:p.Val153GlyfsTer?
NM_173477.5:c.767del MANE Select NP_775748.2:p.Val256GlyfsTer?
NM_001282489.3:c.458del NP_001269418.1:p.Val153GlyfsTer?