Canonical Allele Identifier: CA69742624

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14149101dup , CM000665.2:g.14149101dup	GRCh38
NC_000003.11:g.14190601dup , CM000665.1:g.14190601dup	GRCh37
NC_000003.10:g.14165602dup	NCBI36
NG_011763.1:g.34583dup , LRG_472:g.34583dup

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.2116-142dup MANE Select	NP_004619.3:n.2116-142dup
ENST00000285021.12:c.2116-142dup MANE Select	ENSP00000285021.8:n.2116-142dup
NM_001354726.1:c.1537-142dup	NP_001341655.1:n.1537-142dup
NM_001354726.2:c.1537-142dup	NP_001341655.1:n.1537-142dup
NM_001354727.1:c.2110-142dup	NP_001341656.1:n.2110-142dup
NM_001354727.2:c.2110-142dup	NP_001341656.1:n.2110-142dup
NM_001354729.1:c.2098-142dup	NP_001341658.1:n.2098-142dup
NM_001354729.2:c.2098-142dup	NP_001341658.1:n.2098-142dup
NM_001354730.1:c.1870-142dup	NP_001341659.1:n.1870-142dup
NM_001354730.2:c.1870-142dup	NP_001341659.1:n.1870-142dup
NM_004628.4:c.2116-142dup , LRG_472t1:c.2116-142dup	NP_004619.3:n.2116-142dup
NR_027299.1:n.2096-142dup
NR_148950.1:n.2059-142dup
NR_148950.2:n.1988-142dup
NR_148951.1:n.1935-142dup
NR_148951.2:n.1864-142dup
ENST00000285021.11:c.2116-142dup	ENSP00000285021.7:n.2116-142dup
ENST00000476581.6:c.*1569-142dup	ENSP00000424548.1:n.*1569-142dup
XM_011534092.1:c.2116-142dup	XP_011532394.1:n.2116-142dup
XR_001740256.2:n.2149-142dup
XR_002959580.1:n.2149-142dup
XR_002959581.1:n.3766-142dup