Canonical Allele Identifier: CA2645983387

Gene: USP1

Linked Data

• gnomAD v4: 1-62447494-TAGAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62447499_62447503del , CM000663.2:g.62447499_62447503del	GRCh38
NC_000001.10:g.62913170_62913174del , CM000663.1:g.62913170_62913174del	GRCh37
NC_000001.9:g.62685758_62685762del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339950.5:c.1408_1412del MANE Select	ENSP00000343526.4:p.Glu470PhefsTer2
ENST00000339950.4:c.1408_1412del	ENSP00000343526.4:p.Glu470PhefsTer2
ENST00000371146.5:c.1408_1412del	ENSP00000360188.1:p.Glu470PhefsTer2
NM_001017415.1:c.1408_1412del	NP_001017415.1:p.Glu470PhefsTer2
NM_001017416.1:c.1408_1412del	NP_001017416.1:p.Glu470PhefsTer2
NM_003368.4:c.1408_1412del	NP_003359.3:p.Glu470PhefsTer2
NM_003368.5:c.1408_1412del MANE Select	NP_003359.3:p.Glu470PhefsTer2
NM_001017415.2:c.1408_1412del	NP_001017415.1:p.Glu470PhefsTer2
NM_001017416.2:c.1408_1412del	NP_001017416.1:p.Glu470PhefsTer2