Canonical Allele Identifier: CA251399
Gene: XPC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14158243_14158244del , CM000665.2:g.14158243_14158244del GRCh38
NC_000003.11:g.14199743_14199744del , CM000665.1:g.14199743_14199744del GRCh37
NC_000003.10:g.14174745_14174746del NCBI36
NG_011763.1:g.25433_25434del , LRG_472:g.25433_25434del

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.1643_1644del MANE Select ENSP00000285021.8:p.Val548AlafsTer25
ENST00000285021.11:c.1643_1644del ENSP00000285021.7:p.Val548AlafsTer25
ENST00000476581.6:c.*1096_*1097del ENSP00000424548.1:n.*1096_*1097del
NM_004628.4:c.1643_1644del , LRG_472t1:c.1643_1644del NP_004619.3:p.Val548AlafsTer25
NR_027299.1:n.1623_1624del
XM_011534092.1:c.1643_1644del XP_011532394.1:p.Val548AlafsTer25
XM_011534093.1:c.1643_1644del XP_011532395.1:p.Val548AlafsTer25
NM_001354726.1:c.1064_1065del NP_001341655.1:p.Val355AlafsTer25
NM_001354727.1:c.1643_1644del NP_001341656.1:p.Val548AlafsTer25
NM_001354729.1:c.1625_1626del NP_001341658.1:p.Val542AlafsTer25
NM_001354730.1:c.1626+17_1626+18del NP_001341659.1:n.1626+17_1626+18del
NR_148950.1:n.1747_1748del
NR_148951.1:n.1623_1624del
XR_001740256.2:n.1676_1677del
XR_002959580.1:n.1676_1677del
XR_002959581.1:n.1676_1677del
NM_001354727.2:c.1643_1644del NP_001341656.1:p.Val548AlafsTer25
NM_004628.5:c.1643_1644del MANE Select NP_004619.3:p.Val548AlafsTer25
NR_148950.2:n.1676_1677del
NR_148951.2:n.1552_1553del
NM_001354726.2:c.1064_1065del NP_001341655.1:p.Val355AlafsTer25
NM_001354729.2:c.1625_1626del NP_001341658.1:p.Val542AlafsTer25
NM_001354730.2:c.1626+17_1626+18del NP_001341659.1:n.1626+17_1626+18del
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