Canonical Allele Identifier: CA645514772
Gene: XPC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14158102_14158103insA , CM000665.2:g.14158102_14158103insA GRCh38
NC_000003.11:g.14199602_14199603insA , CM000665.1:g.14199602_14199603insA GRCh37
NC_000003.10:g.14174604_14174605insA NCBI36
NG_011763.1:g.25570_25571insT , LRG_472:g.25570_25571insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.1780_1781insT MANE Select ENSP00000285021.8:p.Arg594LeufsTer6
ENST00000285021.11:c.1780_1781insT ENSP00000285021.7:p.Arg594LeufsTer6
ENST00000476581.6:c.*1233_*1234insT ENSP00000424548.1:n.*1233_*1234insT
NM_004628.4:c.1780_1781insT , LRG_472t1:c.1780_1781insT NP_004619.3:p.Arg594LeufsTer6
NR_027299.1:n.1760_1761insT
XM_011534092.1:c.1780_1781insT XP_011532394.1:p.Arg594LeufsTer6
XM_011534093.1:c.1780_1781insT XP_011532395.1:p.Arg594LeufsTer6
NM_001354726.1:c.1201_1202insT NP_001341655.1:p.Arg401LeufsTer6
NM_001354727.1:c.1780_1781insT NP_001341656.1:p.Arg594LeufsTer6
NM_001354729.1:c.1762_1763insT NP_001341658.1:p.Arg588LeufsTer6
NM_001354730.1:c.1626+154_1626+155insT NP_001341659.1:n.1626+154_1626+155insT
NR_148950.1:n.1884_1885insT
NR_148951.1:n.1760_1761insT
XR_001740256.2:n.1813_1814insT
XR_002959580.1:n.1813_1814insT
XR_002959581.1:n.1813_1814insT
NM_001354727.2:c.1780_1781insT NP_001341656.1:p.Arg594LeufsTer6
NM_004628.5:c.1780_1781insT MANE Select NP_004619.3:p.Arg594LeufsTer6
NR_148950.2:n.1813_1814insT
NR_148951.2:n.1689_1690insT
NM_001354726.2:c.1201_1202insT NP_001341655.1:p.Arg401LeufsTer6
NM_001354729.2:c.1762_1763insT NP_001341658.1:p.Arg588LeufsTer6
NM_001354730.2:c.1626+154_1626+155insT NP_001341659.1:n.1626+154_1626+155insT