Canonical Allele Identifier: CA2690901647

Gene: XPA

Linked Data

• gnomAD v4: 9-97675351-C-CTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675352_97675361dup , CM000671.2:g.97675352_97675361dup	GRCh38
NC_000009.11:g.100437634_100437643dup , CM000671.1:g.100437634_100437643dup	GRCh37
NC_000009.10:g.99477455_99477464dup	NCBI36
NG_011642.1:g.27049_27058dup , LRG_471:g.27049_27058dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*78_*87dup MANE Select	ENSP00000364270.5:n.*78_*87dup
ENST00000375128.4:c.*78_*87dup	ENSP00000364270.4:n.*78_*87dup
ENST00000462523.5:c.*336_*345dup	ENSP00000433006.1:n.*336_*345dup
ENST00000485042.1:n.412_421dup
NM_000380.3:c.*78_*87dup , LRG_471t1:c.*78_*87dup	NP_000371.1:n.*78_*87dup
NR_027302.1:n.1248_1257dup
XM_006717278.1:c.772+128_772+137dup	XP_006717341.1:n.772+128_772+137dup
XM_011518988.1:c.772+128_772+137dup	XP_011517290.1:n.772+128_772+137dup
NM_001354975.1:c.*78_*87dup	NP_001341904.1:n.*78_*87dup
NR_149091.1:n.745_754dup
NR_149092.1:n.911_920dup
NR_149093.1:n.1437_1446dup
NR_149094.1:n.1331_1340dup
NM_000380.4:c.*78_*87dup MANE Select	NP_000371.1:n.*78_*87dup
NM_001354975.2:c.*78_*87dup	NP_001341904.1:n.*78_*87dup
NR_027302.2:n.1179_1188dup
NR_149091.2:n.676_685dup
NR_149092.2:n.842_851dup
NR_149093.2:n.1368_1377dup
NR_149094.2:n.1262_1271dup