Canonical Allele Identifier: CA913102183

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190145dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148645dup , CM000665.2:g.14148645dup	GRCh38
NC_000003.11:g.14190145dup , CM000665.1:g.14190145dup	GRCh37
NC_000003.10:g.14165146dup	NCBI36
NG_011763.1:g.35028dup , LRG_472:g.35028dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2337dup MANE Select	ENSP00000285021.8:p.His780ThrfsTer19
ENST00000285021.11:c.2337dup	ENSP00000285021.7:p.His780ThrfsTer19
ENST00000427795.2:n.202dup
ENST00000476581.6:c.*1790dup	ENSP00000424548.1:n.*1790dup
NM_004628.4:c.2337dup , LRG_472t1:c.2337dup	NP_004619.3:p.His780ThrfsTer19
NR_027299.1:n.2317dup
XM_011534092.1:c.2337dup	XP_011532394.1:p.His780ThrfsTer19
NM_001354726.1:c.1758dup	NP_001341655.1:p.His587ThrfsTer19
NM_001354727.1:c.2331dup	NP_001341656.1:p.His778ThrfsTer19
NM_001354729.1:c.2319dup	NP_001341658.1:p.His774ThrfsTer19
NM_001354730.1:c.2091dup	NP_001341659.1:p.His698ThrfsTer19
NR_148950.1:n.2280dup
NR_148951.1:n.2156dup
XR_001740256.2:n.2370dup
XR_002959580.1:n.2370dup
XR_002959581.1:n.3987dup
NM_001354727.2:c.2331dup	NP_001341656.1:p.His778ThrfsTer19
NM_004628.5:c.2337dup MANE Select	NP_004619.3:p.His780ThrfsTer19
NR_148950.2:n.2209dup
NR_148951.2:n.2085dup
NM_001354726.2:c.1758dup	NP_001341655.1:p.His587ThrfsTer19
NM_001354729.2:c.2319dup	NP_001341658.1:p.His774ThrfsTer19
NM_001354730.2:c.2091dup	NP_001341659.1:p.His698ThrfsTer19