Canonical Allele Identifier: CA2690901800
Gene: XPA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675798_97675800del , CM000671.2:g.97675798_97675800del GRCh38
NC_000009.11:g.100438080_100438082del , CM000671.1:g.100438080_100438082del GRCh37
NC_000009.10:g.99477901_99477903del NCBI36
NG_011642.1:g.26612_26614del , LRG_471:g.26612_26614del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.674-211_674-209del MANE Select ENSP00000364270.5:n.674-211_674-209del
ENST00000375128.4:c.674-211_674-209del ENSP00000364270.4:n.674-211_674-209del
ENST00000462523.5:c.*110-211_*110-209del ENSP00000433006.1:n.*110-211_*110-209del
ENST00000485042.1:n.158_160del
NM_000380.3:c.674-211_674-209del , LRG_471t1:c.674-211_674-209del NP_000371.1:n.674-211_674-209del
NR_027302.1:n.1022-211_1022-209del
XM_006717278.1:c.674-211_674-209del XP_006717341.1:n.674-211_674-209del
XM_011518988.1:c.674-211_674-209del XP_011517290.1:n.674-211_674-209del
XR_929839.1:n.1177_1179del
NM_001354975.1:c.548-211_548-209del NP_001341904.1:n.548-211_548-209del
NR_149091.1:n.519-211_519-209del
NR_149092.1:n.685-211_685-209del
NR_149093.1:n.1183_1185del
NR_149094.1:n.1077_1079del
NM_000380.4:c.674-211_674-209del MANE Select NP_000371.1:n.674-211_674-209del
NM_001354975.2:c.548-211_548-209del NP_001341904.1:n.548-211_548-209del
NR_027302.2:n.953-211_953-209del
NR_149091.2:n.450-211_450-209del
NR_149092.2:n.616-211_616-209del
NR_149093.2:n.1114_1116del
NR_149094.2:n.1008_1010del