Canonical Allele Identifier: CA2690901657

Gene: XPA

Linked Data

• gnomAD v4: 9-97675368-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675369_97675370del , CM000671.2:g.97675369_97675370del	GRCh38
NC_000009.11:g.100437651_100437652del , CM000671.1:g.100437651_100437652del	GRCh37
NC_000009.10:g.99477472_99477473del	NCBI36
NG_011642.1:g.27040_27041del , LRG_471:g.27040_27041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*69_*70del MANE Select	ENSP00000364270.5:n.*69_*70del
ENST00000375128.4:c.*69_*70del	ENSP00000364270.4:n.*69_*70del
ENST00000462523.5:c.*327_*328del	ENSP00000433006.1:n.*327_*328del
ENST00000485042.1:n.403_404del
NM_000380.3:c.*69_*70del , LRG_471t1:c.*69_*70del	NP_000371.1:n.*69_*70del
NR_027302.1:n.1239_1240del
XM_006717278.1:c.772+119_772+120del	XP_006717341.1:n.772+119_772+120del
XM_011518988.1:c.772+119_772+120del	XP_011517290.1:n.772+119_772+120del
NM_001354975.1:c.*69_*70del	NP_001341904.1:n.*69_*70del
NR_149091.1:n.736_737del
NR_149092.1:n.902_903del
NR_149093.1:n.1428_1429del
NR_149094.1:n.1322_1323del
NM_000380.4:c.*69_*70del MANE Select	NP_000371.1:n.*69_*70del
NM_001354975.2:c.*69_*70del	NP_001341904.1:n.*69_*70del
NR_027302.2:n.1170_1171del
NR_149091.2:n.667_668del
NR_149092.2:n.833_834del
NR_149093.2:n.1359_1360del
NR_149094.2:n.1253_1254del