Canonical Allele Identifier: CA868996381

Gene: XPA

Linked Data

• dbSNP Id: rs1383517173
• gnomAD v3: 9-97675847-T-TG
• gnomAD v4: 9-97675847-T-TG
• MyVariant Identifiers: chr9:g.100438129_100438130insG (hg19) ; chr9:g.97675847_97675848insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675849dup , CM000671.2:g.97675849dup	GRCh38
NC_000009.11:g.100438131dup , CM000671.1:g.100438131dup	GRCh37
NC_000009.10:g.99477952dup	NCBI36
NG_011642.1:g.26562dup , LRG_471:g.26562dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-261dup MANE Select	ENSP00000364270.5:n.674-261dup
ENST00000375128.4:c.674-261dup	ENSP00000364270.4:n.674-261dup
ENST00000462523.5:c.*110-261dup	ENSP00000433006.1:n.*110-261dup
ENST00000485042.1:n.108dup
NM_000380.3:c.674-261dup , LRG_471t1:c.674-261dup	NP_000371.1:n.674-261dup
NR_027302.1:n.1022-261dup
XM_006717278.1:c.674-261dup	XP_006717341.1:n.674-261dup
XM_011518988.1:c.674-261dup	XP_011517290.1:n.674-261dup
XR_929839.1:n.1127dup
NM_001354975.1:c.548-261dup	NP_001341904.1:n.548-261dup
NR_149091.1:n.519-261dup
NR_149092.1:n.685-261dup
NR_149093.1:n.1133dup
NR_149094.1:n.1027dup
NM_000380.4:c.674-261dup MANE Select	NP_000371.1:n.674-261dup
NM_001354975.2:c.548-261dup	NP_001341904.1:n.548-261dup
NR_027302.2:n.953-261dup
NR_149091.2:n.450-261dup
NR_149092.2:n.616-261dup
NR_149093.2:n.1064dup
NR_149094.2:n.958dup