Canonical Allele Identifier: CA2664577236

Gene: XPC

Linked Data

• ClinVar Variation Id: 2679649
• ClinVar RCV Id: RCV003466568
• gnomAD v4: 3-14158084-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158085dup , CM000665.2:g.14158085dup	GRCh38
NC_000003.11:g.14199585dup , CM000665.1:g.14199585dup	GRCh37
NC_000003.10:g.14174587dup	NCBI36
NG_011763.1:g.25588dup , LRG_472:g.25588dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1798dup MANE Select	ENSP00000285021.8:p.Ala600GlyfsTer2
ENST00000285021.11:c.1798dup	ENSP00000285021.7:p.Ala600GlyfsTer2
ENST00000476581.6:c.*1251dup	ENSP00000424548.1:n.*1251dup
NM_004628.4:c.1798dup , LRG_472t1:c.1798dup	NP_004619.3:p.Ala600GlyfsTer2
NR_027299.1:n.1778dup
XM_011534092.1:c.1798dup	XP_011532394.1:p.Ala600GlyfsTer2
XM_011534093.1:c.1798dup	XP_011532395.1:p.Ala600GlyfsTer2
NM_001354726.1:c.1219dup	NP_001341655.1:p.Ala407GlyfsTer2
NM_001354727.1:c.1798dup	NP_001341656.1:p.Ala600GlyfsTer2
NM_001354729.1:c.1780dup	NP_001341658.1:p.Ala594GlyfsTer2
NM_001354730.1:c.1626+172dup	NP_001341659.1:n.1626+172dup
NR_148950.1:n.1902dup
NR_148951.1:n.1778dup
XR_001740256.2:n.1831dup
XR_002959580.1:n.1831dup
XR_002959581.1:n.1831dup
NM_001354727.2:c.1798dup	NP_001341656.1:p.Ala600GlyfsTer2
NM_004628.5:c.1798dup MANE Select	NP_004619.3:p.Ala600GlyfsTer2
NR_148950.2:n.1831dup
NR_148951.2:n.1707dup
NM_001354726.2:c.1219dup	NP_001341655.1:p.Ala407GlyfsTer2
NM_001354729.2:c.1780dup	NP_001341658.1:p.Ala594GlyfsTer2
NM_001354730.2:c.1626+172dup	NP_001341659.1:n.1626+172dup