Canonical Allele Identifier: CA913142019
Gene: XPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.100437768dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675486dup , CM000671.2:g.97675486dup GRCh38
NC_000009.11:g.100437768dup , CM000671.1:g.100437768dup GRCh37
NC_000009.10:g.99477589dup NCBI36
NG_011642.1:g.26925dup , LRG_471:g.26925dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.776dup MANE Select ENSP00000364270.5:p.Thr260AspfsTer8
ENST00000375128.4:c.776dup ENSP00000364270.4:p.Thr260AspfsTer8
ENST00000462523.5:c.*212dup ENSP00000433006.1:n.*212dup
ENST00000485042.1:n.288dup
NM_000380.3:c.776dup , LRG_471t1:c.776dup NP_000371.1:p.Thr260AspfsTer8
NR_027302.1:n.1124dup
XM_006717278.1:c.772+4dup XP_006717341.1:n.772+4dup
XM_011518988.1:c.772+4dup XP_011517290.1:n.772+4dup
NM_001354975.1:c.650dup NP_001341904.1:p.Thr218AspfsTer8
NR_149091.1:n.621dup
NR_149092.1:n.787dup
NR_149093.1:n.1313dup
NR_149094.1:n.1207dup
NM_000380.4:c.776dup MANE Select NP_000371.1:p.Thr260AspfsTer8
NM_001354975.2:c.650dup NP_001341904.1:p.Thr218AspfsTer8
NR_027302.2:n.1055dup
NR_149091.2:n.552dup
NR_149092.2:n.718dup
NR_149093.2:n.1244dup
NR_149094.2:n.1138dup