Canonical Allele Identifier: CA1866632381
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675676_97675678delinsATG , CM000671.2:g.97675676_97675678delinsATG GRCh38
NC_000009.11:g.100437958_100437960delinsATG , CM000671.1:g.100437958_100437960delinsATG GRCh37
NC_000009.10:g.99477779_99477781delinsATG NCBI36
NG_011642.1:g.26732_26734delinsCAT , LRG_471:g.26732_26734delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.674-91_674-89delinsCAT MANE Select ENSP00000364270.5:n.674-91_674-89delinsCAT
ENST00000375128.4:c.674-91_674-89delinsCAT ENSP00000364270.4:n.674-91_674-89delinsCAT
ENST00000462523.5:c.*110-91_*110-89delinsCAT ENSP00000433006.1:n.*110-91_*110-89delinsCAT
ENST00000485042.1:n.186-91_186-89delinsCAT
NM_000380.3:c.674-91_674-89delinsCAT , LRG_471t1:c.674-91_674-89delinsCAT NP_000371.1:n.674-91_674-89delinsCAT
NR_027302.1:n.1022-91_1022-89delinsCAT
XM_006717278.1:c.674-91_674-89delinsCAT XP_006717341.1:n.674-91_674-89delinsCAT
XM_011518988.1:c.674-91_674-89delinsCAT XP_011517290.1:n.674-91_674-89delinsCAT
XR_929839.1:n.1205-91_1205-89delinsCAT
NM_001354975.1:c.548-91_548-89delinsCAT NP_001341904.1:n.548-91_548-89delinsCAT
NR_149091.1:n.519-91_519-89delinsCAT
NR_149092.1:n.685-91_685-89delinsCAT
NR_149093.1:n.1211-91_1211-89delinsCAT
NR_149094.1:n.1105-91_1105-89delinsCAT
NM_000380.4:c.674-91_674-89delinsCAT MANE Select NP_000371.1:n.674-91_674-89delinsCAT
NM_001354975.2:c.548-91_548-89delinsCAT NP_001341904.1:n.548-91_548-89delinsCAT
NR_027302.2:n.953-91_953-89delinsCAT
NR_149091.2:n.450-91_450-89delinsCAT
NR_149092.2:n.616-91_616-89delinsCAT
NR_149093.2:n.1142-91_1142-89delinsCAT
NR_149094.2:n.1036-91_1036-89delinsCAT