Canonical Allele Identifier: CA5148685
Gene: XPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1805592
dbSNP Id: rs777372873

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