Canonical Allele Identifier: CA589582369

Gene: XPA

Linked Data

• dbSNP Id: rs750807332
• gnomAD v2: 9-100437633-C-CTTTTTTT
• gnomAD v4: 9-97675351-C-CTTTTTTT
• MyVariant Identifiers: chr9:g.100437635_100437636insTTTTTTT (hg19) ; chr9:g.97675353_97675354insTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675355_97675361dup , CM000671.2:g.97675355_97675361dup	GRCh38
NC_000009.11:g.100437637_100437643dup , CM000671.1:g.100437637_100437643dup	GRCh37
NC_000009.10:g.99477458_99477464dup	NCBI36
NG_011642.1:g.27052_27058dup , LRG_471:g.27052_27058dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*81_*87dup MANE Select	ENSP00000364270.5:n.*81_*87dup
ENST00000375128.4:c.*81_*87dup	ENSP00000364270.4:n.*81_*87dup
ENST00000462523.5:c.*339_*345dup	ENSP00000433006.1:n.*339_*345dup
ENST00000485042.1:n.415_421dup
NM_000380.3:c.*81_*87dup , LRG_471t1:c.*81_*87dup	NP_000371.1:n.*81_*87dup
NR_027302.1:n.1251_1257dup
XM_006717278.1:c.772+131_772+137dup	XP_006717341.1:n.772+131_772+137dup
XM_011518988.1:c.772+131_772+137dup	XP_011517290.1:n.772+131_772+137dup
NM_001354975.1:c.*81_*87dup	NP_001341904.1:n.*81_*87dup
NR_149091.1:n.748_754dup
NR_149092.1:n.914_920dup
NR_149093.1:n.1440_1446dup
NR_149094.1:n.1334_1340dup
NM_000380.4:c.*81_*87dup MANE Select	NP_000371.1:n.*81_*87dup
NM_001354975.2:c.*81_*87dup	NP_001341904.1:n.*81_*87dup
NR_027302.2:n.1182_1188dup
NR_149091.2:n.679_685dup
NR_149092.2:n.845_851dup
NR_149093.2:n.1371_1377dup
NR_149094.2:n.1265_1271dup