Canonical Allele Identifier: CA523751707

Gene: USP1

Linked Data

• dbSNP Id: rs1451624602
• gnomAD v2: 1-62912998-TATTTTC-T
• gnomAD v4: 1-62447327-TATTTTC-T
• MyVariant Identifiers: chr1:g.62912999_62913004del (hg19) ; chr1:g.62447328_62447333del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62447333_62447338del , CM000663.2:g.62447333_62447338del	GRCh38
NC_000001.10:g.62913004_62913009del , CM000663.1:g.62913004_62913009del	GRCh37
NC_000001.9:g.62685592_62685597del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339950.5:c.1250-8_1250-3del MANE Select	ENSP00000343526.4:n.1250-8_1250-3del
ENST00000339950.4:c.1250-8_1250-3del	ENSP00000343526.4:n.1250-8_1250-3del
ENST00000371146.5:c.1250-8_1250-3del	ENSP00000360188.1:n.1250-8_1250-3del
NM_001017415.1:c.1250-8_1250-3del	NP_001017415.1:n.1250-8_1250-3del
NM_001017416.1:c.1250-8_1250-3del	NP_001017416.1:n.1250-8_1250-3del
NM_003368.4:c.1250-8_1250-3del	NP_003359.3:n.1250-8_1250-3del
NM_003368.5:c.1250-8_1250-3del MANE Select	NP_003359.3:n.1250-8_1250-3del
NM_001017415.2:c.1250-8_1250-3del	NP_001017415.1:n.1250-8_1250-3del
NM_001017416.2:c.1250-8_1250-3del	NP_001017416.1:n.1250-8_1250-3del