Canonical Allele Identifier: CA2690901648

Gene: XPA

Linked Data

• gnomAD v4: 9-97675351-C-CTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675353_97675361dup , CM000671.2:g.97675353_97675361dup	GRCh38
NC_000009.11:g.100437635_100437643dup , CM000671.1:g.100437635_100437643dup	GRCh37
NC_000009.10:g.99477456_99477464dup	NCBI36
NG_011642.1:g.27050_27058dup , LRG_471:g.27050_27058dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*79_*87dup MANE Select	ENSP00000364270.5:n.*79_*87dup
ENST00000375128.4:c.*79_*87dup	ENSP00000364270.4:n.*79_*87dup
ENST00000462523.5:c.*337_*345dup	ENSP00000433006.1:n.*337_*345dup
ENST00000485042.1:n.413_421dup
NM_000380.3:c.*79_*87dup , LRG_471t1:c.*79_*87dup	NP_000371.1:n.*79_*87dup
NR_027302.1:n.1249_1257dup
XM_006717278.1:c.772+129_772+137dup	XP_006717341.1:n.772+129_772+137dup
XM_011518988.1:c.772+129_772+137dup	XP_011517290.1:n.772+129_772+137dup
NM_001354975.1:c.*79_*87dup	NP_001341904.1:n.*79_*87dup
NR_149091.1:n.746_754dup
NR_149092.1:n.912_920dup
NR_149093.1:n.1438_1446dup
NR_149094.1:n.1332_1340dup
NM_000380.4:c.*79_*87dup MANE Select	NP_000371.1:n.*79_*87dup
NM_001354975.2:c.*79_*87dup	NP_001341904.1:n.*79_*87dup
NR_027302.2:n.1180_1188dup
NR_149091.2:n.677_685dup
NR_149092.2:n.843_851dup
NR_149093.2:n.1369_1377dup
NR_149094.2:n.1263_1271dup