Canonical Allele Identifier: CA1866632387
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675688_97675690delinsCTA , CM000671.2:g.97675688_97675690delinsCTA GRCh38
NC_000009.11:g.100437970_100437972delinsCTA , CM000671.1:g.100437970_100437972delinsCTA GRCh37
NC_000009.10:g.99477791_99477793delinsCTA NCBI36
NG_011642.1:g.26720_26722delinsTAG , LRG_471:g.26720_26722delinsTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.674-103_674-101delinsTAG MANE Select ENSP00000364270.5:n.674-103_674-101delinsTAG
ENST00000375128.4:c.674-103_674-101delinsTAG ENSP00000364270.4:n.674-103_674-101delinsTAG
ENST00000462523.5:c.*110-103_*110-101delinsTAG ENSP00000433006.1:n.*110-103_*110-101delinsTAG
ENST00000485042.1:n.185+81_185+83delinsTAG
NM_000380.3:c.674-103_674-101delinsTAG , LRG_471t1:c.674-103_674-101delinsTAG NP_000371.1:n.674-103_674-101delinsTAG
NR_027302.1:n.1022-103_1022-101delinsTAG
XM_006717278.1:c.674-103_674-101delinsTAG XP_006717341.1:n.674-103_674-101delinsTAG
XM_011518988.1:c.674-103_674-101delinsTAG XP_011517290.1:n.674-103_674-101delinsTAG
XR_929839.1:n.1204+81_1204+83delinsTAG
NM_001354975.1:c.548-103_548-101delinsTAG NP_001341904.1:n.548-103_548-101delinsTAG
NR_149091.1:n.519-103_519-101delinsTAG
NR_149092.1:n.685-103_685-101delinsTAG
NR_149093.1:n.1210+81_1210+83delinsTAG
NR_149094.1:n.1104+81_1104+83delinsTAG
NM_000380.4:c.674-103_674-101delinsTAG MANE Select NP_000371.1:n.674-103_674-101delinsTAG
NM_001354975.2:c.548-103_548-101delinsTAG NP_001341904.1:n.548-103_548-101delinsTAG
NR_027302.2:n.953-103_953-101delinsTAG
NR_149091.2:n.450-103_450-101delinsTAG
NR_149092.2:n.616-103_616-101delinsTAG
NR_149093.2:n.1141+81_1141+83delinsTAG
NR_149094.2:n.1035+81_1035+83delinsTAG