Canonical Allele Identifier: CA1127165661

Gene: XPA

Linked Data

• dbSNP Id: rs1828349294
• gnomAD v3: 9-97675879-GTGAGT-G
• gnomAD v4: 9-97675879-GTGAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675885_97675889del , CM000671.2:g.97675885_97675889del	GRCh38
NC_000009.11:g.100438167_100438171del , CM000671.1:g.100438167_100438171del	GRCh37
NC_000009.10:g.99477988_99477992del	NCBI36
NG_011642.1:g.26526_26530del , LRG_471:g.26526_26530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-297_674-293del MANE Select	ENSP00000364270.5:n.674-297_674-293del
ENST00000375128.4:c.674-297_674-293del	ENSP00000364270.4:n.674-297_674-293del
ENST00000462523.5:c.*110-297_*110-293del	ENSP00000433006.1:n.*110-297_*110-293del
ENST00000485042.1:n.72_76del
NM_000380.3:c.674-297_674-293del , LRG_471t1:c.674-297_674-293del	NP_000371.1:n.674-297_674-293del
NR_027302.1:n.1022-297_1022-293del
XM_006717278.1:c.674-297_674-293del	XP_006717341.1:n.674-297_674-293del
XM_011518988.1:c.674-297_674-293del	XP_011517290.1:n.674-297_674-293del
XR_929839.1:n.1091_1095del
NM_001354975.1:c.548-297_548-293del	NP_001341904.1:n.548-297_548-293del
NR_149091.1:n.519-297_519-293del
NR_149092.1:n.685-297_685-293del
NR_149093.1:n.1097_1101del
NR_149094.1:n.991_995del
NM_000380.4:c.674-297_674-293del MANE Select	NP_000371.1:n.674-297_674-293del
NM_001354975.2:c.548-297_548-293del	NP_001341904.1:n.548-297_548-293del
NR_027302.2:n.953-297_953-293del
NR_149091.2:n.450-297_450-293del
NR_149092.2:n.616-297_616-293del
NR_149093.2:n.1028_1032del
NR_149094.2:n.922_926del