Canonical Allele Identifier: CA913102191
Gene: XPC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14158132_14158134del , CM000665.2:g.14158132_14158134del GRCh38
NC_000003.11:g.14199632_14199634del , CM000665.1:g.14199632_14199634del GRCh37
NC_000003.10:g.14174634_14174636del NCBI36
NG_011763.1:g.25540_25542del , LRG_472:g.25540_25542del

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.1750_1752del MANE Select ENSP00000285021.8:p.Arg584del
ENST00000285021.11:c.1750_1752del ENSP00000285021.7:p.Arg584del
ENST00000476581.6:c.*1203_*1205del ENSP00000424548.1:n.*1203_*1205del
NM_004628.4:c.1750_1752del , LRG_472t1:c.1750_1752del NP_004619.3:p.Arg584del
NR_027299.1:n.1730_1732del
XM_011534092.1:c.1750_1752del XP_011532394.1:p.Arg584del
XM_011534093.1:c.1750_1752del XP_011532395.1:p.Arg584del
NM_001354726.1:c.1171_1173del NP_001341655.1:p.Arg391del
NM_001354727.1:c.1750_1752del NP_001341656.1:p.Arg584del
NM_001354729.1:c.1732_1734del NP_001341658.1:p.Arg578del
NM_001354730.1:c.1626+124_1626+126del NP_001341659.1:n.1626+124_1626+126del
NR_148950.1:n.1854_1856del
NR_148951.1:n.1730_1732del
XR_001740256.2:n.1783_1785del
XR_002959580.1:n.1783_1785del
XR_002959581.1:n.1783_1785del
NM_001354727.2:c.1750_1752del NP_001341656.1:p.Arg584del
NM_004628.5:c.1750_1752del MANE Select NP_004619.3:p.Arg584del
NR_148950.2:n.1783_1785del
NR_148951.2:n.1659_1661del
NM_001354726.2:c.1171_1173del NP_001341655.1:p.Arg391del
NM_001354729.2:c.1732_1734del NP_001341658.1:p.Arg578del
NM_001354730.2:c.1626+124_1626+126del NP_001341659.1:n.1626+124_1626+126del