Canonical Allele Identifier: CA5148685

Gene: XPA

Linked Data

• ClinVar Variation Id: 1805592
• ClinVar RCV Id: RCV002472010 ; RCV002571476 ; RCV003111575
• dbSNP Id: rs777372873
• ExAC: 9:100437783 C / CT
• gnomAD v2: 9-100437783-C-CT
• gnomAD v3: 9-97675501-C-CT
• gnomAD v4: 9-97675501-C-CT
• MyVariant Identifiers: chr9:g.100437783_100437784insT (hg19) ; chr9:g.97675501_97675502insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675503dup , CM000671.2:g.97675503dup	GRCh38
NC_000009.11:g.100437785dup , CM000671.1:g.100437785dup	GRCh37
NC_000009.10:g.99477606dup	NCBI36
NG_011642.1:g.26908dup , LRG_471:g.26908dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.759dup MANE Select	ENSP00000364270.5:p.Asp254ArgfsTer2
ENST00000375128.4:c.759dup	ENSP00000364270.4:p.Asp254ArgfsTer2
ENST00000462523.5:c.*195dup	ENSP00000433006.1:n.*195dup
ENST00000485042.1:n.271dup
NM_000380.3:c.759dup , LRG_471t1:c.759dup	NP_000371.1:p.Asp254ArgfsTer2
NR_027302.1:n.1107dup
XM_006717278.1:c.759dup	XP_006717341.1:p.Asp254ArgfsTer2
XM_011518988.1:c.759dup	XP_011517290.1:p.Asp254ArgfsTer2
XR_929839.1:n.1290dup
NM_001354975.1:c.633dup	NP_001341904.1:p.Asp212ArgfsTer2
NR_149091.1:n.604dup
NR_149092.1:n.770dup
NR_149093.1:n.1296dup
NR_149094.1:n.1190dup
NM_000380.4:c.759dup MANE Select	NP_000371.1:p.Asp254ArgfsTer2
NM_001354975.2:c.633dup	NP_001341904.1:p.Asp212ArgfsTer2
NR_027302.2:n.1038dup
NR_149091.2:n.535dup
NR_149092.2:n.701dup
NR_149093.2:n.1227dup
NR_149094.2:n.1121dup