Canonical Allele Identifier: CA1045268085

Gene: XPC

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14145949_14145950insGTGGGTGCCCCTCTAGTGGGCGCTCAGCTCACAGCTT , CM000665.2:g.14145949_14145950insGTGGGTGCCCCTCTAGTGGGCGCTCAGCTCACAGCTT	GRCh38
NC_000003.11:g.14187449_14187450insGTGGGTGCCCCTCTAGTGGGCGCTCAGCTCACAGCTT , CM000665.1:g.14187449_14187450insGTGGGTGCCCCTCTAGTGGGCGCTCAGCTCACAGCTT	GRCh37
NC_000003.10:g.14162450_14162451insGTGGGTGCCCCTCTAGTGGGCGCTCAGCTCACAGCTT	NCBI36
NG_011763.1:g.37723_37724insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC , LRG_472:g.37723_37724insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2814_2815insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC MANE Select	ENSP00000285021.8:p.Gln939LysfsTer3
ENST00000285021.11:c.2814_2815insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC	ENSP00000285021.7:p.Gln939LysfsTer3
ENST00000476581.6:c.*2267_*2268insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC	ENSP00000424548.1:n.*2267_*2268insAAGCTGTGAGCTGAGCGCCCACTAGAG...
ENST00000601399.3:n.689+266_689+267insGTGGGTGCCCCTCTAGTGGGCGCTCAGCTCACAGCTT
ENST00000608606.1:c.598+266_598+267insGTGGGTGCCCCTCTAGTGGGCGCTCAGCTCACAGCTT
ENST00000626721.1:n.588+266_588+267insGTGGGTGCCCCTCTAGTGGGCGCTCAGCTCACAGCTT
NM_004628.4:c.2814_2815insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC , LRG_472t1:c.2814_2815insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC	NP_004619.3:p.Gln939LysfsTer3
NR_027299.1:n.2794_2795insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC
NM_001354726.1:c.2235_2236insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC	NP_001341655.1:p.Gln746LysfsTer3
NM_001354727.1:c.2808_2809insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC	NP_001341656.1:p.Gln937LysfsTer3
NM_001354729.1:c.2796_2797insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC	NP_001341658.1:p.Gln933LysfsTer3
NM_001354730.1:c.2568_2569insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC	NP_001341659.1:p.Gln857LysfsTer3
NR_148950.1:n.2757_2758insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC
NR_148951.1:n.2633_2634insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC
XR_001740256.2:n.3121_3122insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC
XR_002959580.1:n.3196_3197insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC
XR_002959581.1:n.4464_4465insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC
NM_001354727.2:c.2808_2809insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC	NP_001341656.1:p.Gln937LysfsTer3
NM_004628.5:c.2814_2815insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC MANE Select	NP_004619.3:p.Gln939LysfsTer3
NR_148950.2:n.2686_2687insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC
NR_148951.2:n.2562_2563insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC
NM_001354726.2:c.2235_2236insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC	NP_001341655.1:p.Gln746LysfsTer3
NM_001354729.2:c.2796_2797insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC	NP_001341658.1:p.Gln933LysfsTer3
NM_001354730.2:c.2568_2569insAAGCTGTGAGCTGAGCGCCCACTAGAGGGGCACCCAC	NP_001341659.1:p.Gln857LysfsTer3