Canonical Allele Identifier: CA2755301543

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158027_14158030dup , CM000665.2:g.14158027_14158030dup	GRCh38
NC_000003.11:g.14199527_14199530dup , CM000665.1:g.14199527_14199530dup	GRCh37
NC_000003.10:g.14174529_14174532dup	NCBI36
NG_011763.1:g.25643_25646dup , LRG_472:g.25643_25646dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1853_1856dup MANE Select	ENSP00000285021.8:p.Lys620GlufsTer10
ENST00000285021.11:c.1853_1856dup	ENSP00000285021.7:p.Lys620GlufsTer10
ENST00000476581.6:c.*1306_*1309dup	ENSP00000424548.1:n.*1306_*1309dup
NM_004628.4:c.1853_1856dup , LRG_472t1:c.1853_1856dup	NP_004619.3:p.Lys620GlufsTer24
NR_027299.1:n.1833_1836dup
XM_011534092.1:c.1853_1856dup	XP_011532394.1:p.Lys620GlufsTer10
XM_011534093.1:c.1853_1856dup	XP_011532395.1:p.Lys620GlufsTer10
NM_001354726.1:c.1274_1277dup	NP_001341655.1:p.Lys427GlufsTer24
NM_001354727.1:c.1853_1856dup	NP_001341656.1:p.Lys620GlufsTer28
NM_001354729.1:c.1835_1838dup	NP_001341658.1:p.Lys614GlufsTer24
NM_001354730.1:c.1626+227_1626+230dup	NP_001341659.1:n.1626+227_1626+230dup
NR_148950.1:n.1957_1960dup
NR_148951.1:n.1833_1836dup
XR_001740256.2:n.1886_1889dup
XR_002959580.1:n.1886_1889dup
XR_002959581.1:n.1886_1889dup
NM_001354727.2:c.1853_1856dup	NP_001341656.1:p.Lys620GlufsTer28
NM_004628.5:c.1853_1856dup MANE Select	NP_004619.3:p.Lys620GlufsTer10
NR_148950.2:n.1886_1889dup
NR_148951.2:n.1762_1765dup
NM_001354726.2:c.1274_1277dup	NP_001341655.1:p.Lys427GlufsTer10
NM_001354729.2:c.1835_1838dup	NP_001341658.1:p.Lys614GlufsTer10
NM_001354730.2:c.1626+227_1626+230dup	NP_001341659.1:n.1626+227_1626+230dup