Canonical Allele Identifier: CA1866632187
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675361_97675364delinsTGAA , CM000671.2:g.97675361_97675364delinsTGAA GRCh38
NC_000009.11:g.100437643_100437646delinsTGAA , CM000671.1:g.100437643_100437646delinsTGAA GRCh37
NC_000009.10:g.99477464_99477467delinsTGAA NCBI36
NG_011642.1:g.27046_27049delinsTTCA , LRG_471:g.27046_27049delinsTTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.*75_*78delinsTTCA MANE Select ENSP00000364270.5:n.*75_*78delinsTTCA
ENST00000375128.4:c.*75_*78delinsTTCA ENSP00000364270.4:n.*75_*78delinsTTCA
ENST00000462523.5:c.*333_*336delinsTTCA ENSP00000433006.1:n.*333_*336delinsTTCA
ENST00000485042.1:n.409_412delinsTTCA
NM_000380.3:c.*75_*78delinsTTCA , LRG_471t1:c.*75_*78delinsTTCA NP_000371.1:n.*75_*78delinsTTCA
NR_027302.1:n.1245_1248delinsTTCA
XM_006717278.1:c.772+125_772+128delinsTTCA XP_006717341.1:n.772+125_772+128delinsTTCA
XM_011518988.1:c.772+125_772+128delinsTTCA XP_011517290.1:n.772+125_772+128delinsTTCA
NM_001354975.1:c.*75_*78delinsTTCA NP_001341904.1:n.*75_*78delinsTTCA
NR_149091.1:n.742_745delinsTTCA
NR_149092.1:n.908_911delinsTTCA
NR_149093.1:n.1434_1437delinsTTCA
NR_149094.1:n.1328_1331delinsTTCA
NM_000380.4:c.*75_*78delinsTTCA MANE Select NP_000371.1:n.*75_*78delinsTTCA
NM_001354975.2:c.*75_*78delinsTTCA NP_001341904.1:n.*75_*78delinsTTCA
NR_027302.2:n.1176_1179delinsTTCA
NR_149091.2:n.673_676delinsTTCA
NR_149092.2:n.839_842delinsTTCA
NR_149093.2:n.1365_1368delinsTTCA
NR_149094.2:n.1259_1262delinsTTCA