Canonical Allele Identifier: CA1002414957
Gene: USP1 HGNC NCBI

Linked Data

dbSNP Id: rs1645181000
gnomAD v3: 1-62447146-TAGTC-T
gnomAD v4: 1-62447146-TAGTC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62447150_62447153del , CM000663.2:g.62447150_62447153del GRCh38
NC_000001.10:g.62912821_62912824del , CM000663.1:g.62912821_62912824del GRCh37
NC_000001.9:g.62685409_62685412del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000339950.5:c.1250-191_1250-188del MANE Select ENSP00000343526.4:n.1250-191_1250-188del
ENST00000339950.4:c.1250-191_1250-188del ENSP00000343526.4:n.1250-191_1250-188del
ENST00000371146.5:c.1250-191_1250-188del ENSP00000360188.1:n.1250-191_1250-188del
NM_001017415.1:c.1250-191_1250-188del NP_001017415.1:n.1250-191_1250-188del
NM_001017416.1:c.1250-191_1250-188del NP_001017416.1:n.1250-191_1250-188del
NM_003368.4:c.1250-191_1250-188del NP_003359.3:n.1250-191_1250-188del
NM_003368.5:c.1250-191_1250-188del MANE Select NP_003359.3:n.1250-191_1250-188del
NM_001017415.2:c.1250-191_1250-188del NP_001017415.1:n.1250-191_1250-188del
NM_001017416.2:c.1250-191_1250-188del NP_001017416.1:n.1250-191_1250-188del
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