Canonical Allele Identifier: CA2785233295
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675738_97675741dup , CM000671.2:g.97675738_97675741dup GRCh38
NC_000009.11:g.100438020_100438023dup , CM000671.1:g.100438020_100438023dup GRCh37
NC_000009.10:g.99477841_99477844dup NCBI36
NG_011642.1:g.26671_26674dup , LRG_471:g.26671_26674dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.674-152_674-149dup MANE Select ENSP00000364270.5:n.674-152_674-149dup
ENST00000375128.4:c.674-152_674-149dup ENSP00000364270.4:n.674-152_674-149dup
ENST00000462523.5:c.*110-152_*110-149dup ENSP00000433006.1:n.*110-152_*110-149dup
ENST00000485042.1:n.185+32_185+35dup
NM_000380.3:c.674-152_674-149dup , LRG_471t1:c.674-152_674-149dup NP_000371.1:n.674-152_674-149dup
NR_027302.1:n.1022-152_1022-149dup
XM_006717278.1:c.674-152_674-149dup XP_006717341.1:n.674-152_674-149dup
XM_011518988.1:c.674-152_674-149dup XP_011517290.1:n.674-152_674-149dup
XR_929839.1:n.1204+32_1204+35dup
NM_001354975.1:c.548-152_548-149dup NP_001341904.1:n.548-152_548-149dup
NR_149091.1:n.519-152_519-149dup
NR_149092.1:n.685-152_685-149dup
NR_149093.1:n.1210+32_1210+35dup
NR_149094.1:n.1104+32_1104+35dup
NM_000380.4:c.674-152_674-149dup MANE Select NP_000371.1:n.674-152_674-149dup
NM_001354975.2:c.548-152_548-149dup NP_001341904.1:n.548-152_548-149dup
NR_027302.2:n.953-152_953-149dup
NR_149091.2:n.450-152_450-149dup
NR_149092.2:n.616-152_616-149dup
NR_149093.2:n.1141+32_1141+35dup
NR_149094.2:n.1035+32_1035+35dup