Canonical Allele Identifier: CA2573144799

Gene: XPA

Linked Data

• ClinVar Variation Id: 1457431
• ClinVar RCV Id: RCV001949247 ; RCV004526164
• dbSNP Id: rs2131379218

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675572dup , CM000671.2:g.97675572dup	GRCh38
NC_000009.11:g.100437854dup , CM000671.1:g.100437854dup	GRCh37
NC_000009.10:g.99477675dup	NCBI36
NG_011642.1:g.26838dup , LRG_471:g.26838dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.689dup MANE Select	ENSP00000364270.5:p.Arg231LysfsTer15
ENST00000375128.4:c.689dup	ENSP00000364270.4:p.Arg231LysfsTer15
ENST00000462523.5:c.*125dup	ENSP00000433006.1:n.*125dup
ENST00000485042.1:n.201dup
NM_000380.3:c.689dup , LRG_471t1:c.689dup	NP_000371.1:p.Arg231LysfsTer15
NR_027302.1:n.1037dup
XM_006717278.1:c.689dup	XP_006717341.1:p.Arg231LysfsTer15
XM_011518988.1:c.689dup	XP_011517290.1:p.Arg231LysfsTer15
XR_929839.1:n.1220dup
NM_001354975.1:c.563dup	NP_001341904.1:p.Arg189LysfsTer15
NR_149091.1:n.534dup
NR_149092.1:n.700dup
NR_149093.1:n.1226dup
NR_149094.1:n.1120dup
NM_000380.4:c.689dup MANE Select	NP_000371.1:p.Arg231LysfsTer15
NM_001354975.2:c.563dup	NP_001341904.1:p.Arg189LysfsTer15
NR_027302.2:n.968dup
NR_149091.2:n.465dup
NR_149092.2:n.631dup
NR_149093.2:n.1157dup
NR_149094.2:n.1051dup