Canonical Allele Identifier: CA1866632255
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675487_97675488delinsAC , CM000671.2:g.97675487_97675488delinsAC GRCh38
NC_000009.11:g.100437769_100437770delinsAC , CM000671.1:g.100437769_100437770delinsAC GRCh37
NC_000009.10:g.99477590_99477591delinsAC NCBI36
NG_011642.1:g.26922_26923delinsGT , LRG_471:g.26922_26923delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.773_774delinsGT MANE Select ENSP00000364270.5:p.Arg258=
ENST00000375128.4:c.773_774delinsGT ENSP00000364270.4:p.Arg258=
ENST00000462523.5:c.*209_*210delinsGT ENSP00000433006.1:n.*209_*210delinsGT
ENST00000485042.1:n.285_286delinsGT
NM_000380.3:c.773_774delinsGT , LRG_471t1:c.773_774delinsGT NP_000371.1:p.Arg258=
NR_027302.1:n.1121_1122delinsGT
XM_006717278.1:c.772+1_772+2delinsGT XP_006717341.1:n.772+1_772+2delinsGT
XM_011518988.1:c.772+1_772+2delinsGT XP_011517290.1:n.772+1_772+2delinsGT
NM_001354975.1:c.647_648delinsGT NP_001341904.1:p.Arg216=
NR_149091.1:n.618_619delinsGT
NR_149092.1:n.784_785delinsGT
NR_149093.1:n.1310_1311delinsGT
NR_149094.1:n.1204_1205delinsGT
NM_000380.4:c.773_774delinsGT MANE Select NP_000371.1:p.Arg258=
NM_001354975.2:c.647_648delinsGT NP_001341904.1:p.Arg216=
NR_027302.2:n.1052_1053delinsGT
NR_149091.2:n.549_550delinsGT
NR_149092.2:n.715_716delinsGT
NR_149093.2:n.1241_1242delinsGT
NR_149094.2:n.1135_1136delinsGT