Canonical Allele Identifier: CA1139657898

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14168269_14168270dup , CM000665.2:g.14168269_14168270dup	GRCh38
NC_000003.11:g.14209769_14209770dup , CM000665.1:g.14209769_14209770dup	GRCh37
NC_000003.10:g.14184773_14184774dup	NCBI36
NG_011763.1:g.15404_15405dup , LRG_472:g.15404_15405dup

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.524_525dup MANE Select	NP_004619.3:p.Arg176GlnfsTer8
ENST00000285021.12:c.524_525dup MANE Select	ENSP00000285021.8:p.Arg176GlnfsTer8
NM_001354726.1:c.-43-1016_-43-1015dup	NP_001341655.1:n.-43-1016_-43-1015dup
NM_001354726.2:c.-43-1016_-43-1015dup	NP_001341655.1:n.-43-1016_-43-1015dup
NM_001354727.1:c.524_525dup	NP_001341656.1:p.Arg176GlnfsTer8
NM_001354727.2:c.524_525dup	NP_001341656.1:p.Arg176GlnfsTer8
NM_001354729.1:c.506_507dup	NP_001341658.1:p.Arg170GlnfsTer8
NM_001354729.2:c.506_507dup	NP_001341658.1:p.Arg170GlnfsTer8
NM_001354730.1:c.524_525dup	NP_001341659.1:p.Arg176GlnfsTer8
NM_001354730.2:c.524_525dup	NP_001341659.1:p.Arg176GlnfsTer8
NM_004628.4:c.524_525dup , LRG_472t1:c.524_525dup	NP_004619.3:p.Arg176GlnfsTer8
NR_027299.1:n.517-1016_517-1015dup
NR_148950.1:n.628_629dup
NR_148950.2:n.557_558dup
NR_148951.1:n.517-1016_517-1015dup
NR_148951.2:n.446-1016_446-1015dup
ENST00000285021.11:c.524_525dup	ENSP00000285021.7:p.Arg176GlnfsTer8
ENST00000452172.1:n.289_290dup
ENST00000455144.6:n.135_136dup
ENST00000476581.6:c.413-1016_413-1015dup	ENSP00000424548.1:n.413-1016_413-1015dup
XM_011534092.1:c.524_525dup	XP_011532394.1:p.Arg176GlnfsTer8
XM_011534093.1:c.524_525dup	XP_011532395.1:p.Arg176GlnfsTer8
XR_001740256.2:n.557_558dup
XR_002959580.1:n.557_558dup
XR_002959581.1:n.557_558dup