Canonical Allele Identifier: CA2739280089

Gene: XPC

Linked Data

• ClinVar Variation Id: 2780811
• ClinVar RCV Id: RCV003659629

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148613_14148614del , CM000665.2:g.14148613_14148614del	GRCh38
NC_000003.11:g.14190113_14190114del , CM000665.1:g.14190113_14190114del	GRCh37
NC_000003.10:g.14165114_14165115del	NCBI36
NG_011763.1:g.35062_35063del , LRG_472:g.35062_35063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2371_2372del MANE Select	ENSP00000285021.8:p.Val791ProfsTer7
ENST00000285021.11:c.2371_2372del	ENSP00000285021.7:p.Val791ProfsTer7
ENST00000427795.2:n.236_237del
ENST00000476581.6:c.*1824_*1825del	ENSP00000424548.1:n.*1824_*1825del
NM_004628.4:c.2371_2372del , LRG_472t1:c.2371_2372del	NP_004619.3:p.Val791ProfsTer7
NR_027299.1:n.2351_2352del
XM_011534092.1:c.2371_2372del	XP_011532394.1:p.Val791ProfsTer7
NM_001354726.1:c.1792_1793del	NP_001341655.1:p.Val598ProfsTer7
NM_001354727.1:c.2365_2366del	NP_001341656.1:p.Val789ProfsTer7
NM_001354729.1:c.2353_2354del	NP_001341658.1:p.Val785ProfsTer7
NM_001354730.1:c.2125_2126del	NP_001341659.1:p.Val709ProfsTer7
NR_148950.1:n.2314_2315del
NR_148951.1:n.2190_2191del
XR_001740256.2:n.2404_2405del
XR_002959580.1:n.2404_2405del
XR_002959581.1:n.4021_4022del
NM_001354727.2:c.2365_2366del	NP_001341656.1:p.Val789ProfsTer7
NM_004628.5:c.2371_2372del MANE Select	NP_004619.3:p.Val791ProfsTer7
NR_148950.2:n.2243_2244del
NR_148951.2:n.2119_2120del
NM_001354726.2:c.1792_1793del	NP_001341655.1:p.Val598ProfsTer7
NM_001354729.2:c.2353_2354del	NP_001341658.1:p.Val785ProfsTer7
NM_001354730.2:c.2125_2126del	NP_001341659.1:p.Val709ProfsTer7