Canonical Allele Identifier: CA1866632477
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675879_97675884delinsGTGAGT , CM000671.2:g.97675879_97675884delinsGTGAGT GRCh38
NC_000009.11:g.100438161_100438166delinsGTGAGT , CM000671.1:g.100438161_100438166delinsGTGAGT GRCh37
NC_000009.10:g.99477982_99477987delinsGTGAGT NCBI36
NG_011642.1:g.26526_26531delinsACTCAC , LRG_471:g.26526_26531delinsACTCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.674-297_674-292delinsACTCAC MANE Select ENSP00000364270.5:n.674-297_674-292delinsACTCAC
ENST00000375128.4:c.674-297_674-292delinsACTCAC ENSP00000364270.4:n.674-297_674-292delinsACTCAC
ENST00000462523.5:c.*110-297_*110-292delinsACTCAC ENSP00000433006.1:n.*110-297_*110-292delinsACTCAC
ENST00000485042.1:n.72_77delinsACTCAC
NM_000380.3:c.674-297_674-292delinsACTCAC , LRG_471t1:c.674-297_674-292delinsACTCAC NP_000371.1:n.674-297_674-292delinsACTCAC
NR_027302.1:n.1022-297_1022-292delinsACTCAC
XM_006717278.1:c.674-297_674-292delinsACTCAC XP_006717341.1:n.674-297_674-292delinsACTCAC
XM_011518988.1:c.674-297_674-292delinsACTCAC XP_011517290.1:n.674-297_674-292delinsACTCAC
XR_929839.1:n.1091_1096delinsACTCAC
NM_001354975.1:c.548-297_548-292delinsACTCAC NP_001341904.1:n.548-297_548-292delinsACTCAC
NR_149091.1:n.519-297_519-292delinsACTCAC
NR_149092.1:n.685-297_685-292delinsACTCAC
NR_149093.1:n.1097_1102delinsACTCAC
NR_149094.1:n.991_996delinsACTCAC
NM_000380.4:c.674-297_674-292delinsACTCAC MANE Select NP_000371.1:n.674-297_674-292delinsACTCAC
NM_001354975.2:c.548-297_548-292delinsACTCAC NP_001341904.1:n.548-297_548-292delinsACTCAC
NR_027302.2:n.953-297_953-292delinsACTCAC
NR_149091.2:n.450-297_450-292delinsACTCAC
NR_149092.2:n.616-297_616-292delinsACTCAC
NR_149093.2:n.1028_1033delinsACTCAC
NR_149094.2:n.922_927delinsACTCAC