Canonical Allele Identifier: CA658822342

Gene: XPC

Linked Data

• ClinVar Variation Id: 558141
• ClinVar RCV Id: RCV000674367 ; RCV001855606
• dbSNP Id: rs1553604559
• gnomAD v4: 3-14148694-AG-A
• MyVariant Identifiers: chr3:g.14190195del (hg19) ; chr3:g.14148695del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148696del , CM000665.2:g.14148696del	GRCh38
NC_000003.11:g.14190196del , CM000665.1:g.14190196del	GRCh37
NC_000003.10:g.14165197del	NCBI36
NG_011763.1:g.34978del , LRG_472:g.34978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2287del MANE Select	ENSP00000285021.8:p.Leu763CysfsTer4
ENST00000285021.11:c.2287del	ENSP00000285021.7:p.Leu763CysfsTer4
ENST00000427795.2:n.152del
ENST00000476581.6:c.*1740del	ENSP00000424548.1:n.*1740del
NM_004628.4:c.2287del , LRG_472t1:c.2287del	NP_004619.3:p.Leu763CysfsTer4
NR_027299.1:n.2267del
XM_011534092.1:c.2287del	XP_011532394.1:p.Leu763CysfsTer4
NM_001354726.1:c.1708del	NP_001341655.1:p.Leu570CysfsTer4
NM_001354727.1:c.2281del	NP_001341656.1:p.Leu761CysfsTer4
NM_001354729.1:c.2269del	NP_001341658.1:p.Leu757CysfsTer4
NM_001354730.1:c.2041del	NP_001341659.1:p.Leu681CysfsTer4
NR_148950.1:n.2230del
NR_148951.1:n.2106del
XR_001740256.2:n.2320del
XR_002959580.1:n.2320del
XR_002959581.1:n.3937del
NM_001354727.2:c.2281del	NP_001341656.1:p.Leu761CysfsTer4
NM_004628.5:c.2287del MANE Select	NP_004619.3:p.Leu763CysfsTer4
NR_148950.2:n.2159del
NR_148951.2:n.2035del
NM_001354726.2:c.1708del	NP_001341655.1:p.Leu570CysfsTer4
NM_001354729.2:c.2269del	NP_001341658.1:p.Leu757CysfsTer4
NM_001354730.2:c.2041del	NP_001341659.1:p.Leu681CysfsTer4