Canonical Allele Identifier: CA2690901744

Gene: XPA

Linked Data

• gnomAD v4: 9-97675716-ACCTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675717_97675720del , CM000671.2:g.97675717_97675720del	GRCh38
NC_000009.11:g.100437999_100438002del , CM000671.1:g.100437999_100438002del	GRCh37
NC_000009.10:g.99477820_99477823del	NCBI36
NG_011642.1:g.26690_26693del , LRG_471:g.26690_26693del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-133_674-130del MANE Select	ENSP00000364270.5:n.674-133_674-130del
ENST00000375128.4:c.674-133_674-130del	ENSP00000364270.4:n.674-133_674-130del
ENST00000462523.5:c.*110-133_*110-130del	ENSP00000433006.1:n.*110-133_*110-130del
ENST00000485042.1:n.185+51_185+54del
NM_000380.3:c.674-133_674-130del , LRG_471t1:c.674-133_674-130del	NP_000371.1:n.674-133_674-130del
NR_027302.1:n.1022-133_1022-130del
XM_006717278.1:c.674-133_674-130del	XP_006717341.1:n.674-133_674-130del
XM_011518988.1:c.674-133_674-130del	XP_011517290.1:n.674-133_674-130del
XR_929839.1:n.1204+51_1204+54del
NM_001354975.1:c.548-133_548-130del	NP_001341904.1:n.548-133_548-130del
NR_149091.1:n.519-133_519-130del
NR_149092.1:n.685-133_685-130del
NR_149093.1:n.1210+51_1210+54del
NR_149094.1:n.1104+51_1104+54del
NM_000380.4:c.674-133_674-130del MANE Select	NP_000371.1:n.674-133_674-130del
NM_001354975.2:c.548-133_548-130del	NP_001341904.1:n.548-133_548-130del
NR_027302.2:n.953-133_953-130del
NR_149091.2:n.450-133_450-130del
NR_149092.2:n.616-133_616-130del
NR_149093.2:n.1141+51_1141+54del
NR_149094.2:n.1035+51_1035+54del