Canonical Allele Identifier: CA2573136218

Gene: XPC

Linked Data

• ClinVar Variation Id: 1641059
• ClinVar RCV Id: RCV002134149
• dbSNP Id: rs2125009423

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148556dup , CM000665.2:g.14148556dup	GRCh38
NC_000003.11:g.14190056dup , CM000665.1:g.14190056dup	GRCh37
NC_000003.10:g.14165057dup	NCBI36
NG_011763.1:g.35117dup , LRG_472:g.35117dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2420+6dup MANE Select	ENSP00000285021.8:n.2420+6dup
ENST00000285021.11:c.2420+6dup	ENSP00000285021.7:n.2420+6dup
ENST00000427795.2:n.285+6dup
ENST00000476581.6:c.*1873+6dup	ENSP00000424548.1:n.*1873+6dup
NM_004628.4:c.2420+6dup , LRG_472t1:c.2420+6dup	NP_004619.3:n.2420+6dup
NR_027299.1:n.2400+6dup
XM_011534092.1:c.2420+6dup	XP_011532394.1:n.2420+6dup
NM_001354726.1:c.1841+6dup	NP_001341655.1:n.1841+6dup
NM_001354727.1:c.2414+6dup	NP_001341656.1:n.2414+6dup
NM_001354729.1:c.2402+6dup	NP_001341658.1:n.2402+6dup
NM_001354730.1:c.2174+6dup	NP_001341659.1:n.2174+6dup
NR_148950.1:n.2363+6dup
NR_148951.1:n.2239+6dup
XR_001740256.2:n.2453+6dup
XR_002959580.1:n.2453+6dup
XR_002959581.1:n.4070+6dup
NM_001354727.2:c.2414+6dup	NP_001341656.1:n.2414+6dup
NM_004628.5:c.2420+6dup MANE Select	NP_004619.3:n.2420+6dup
NR_148950.2:n.2292+6dup
NR_148951.2:n.2168+6dup
NM_001354726.2:c.1841+6dup	NP_001341655.1:n.1841+6dup
NM_001354729.2:c.2402+6dup	NP_001341658.1:n.2402+6dup
NM_001354730.2:c.2174+6dup	NP_001341659.1:n.2174+6dup