Canonical Allele Identifier: CA2690901689

Gene: XPA

Linked Data

• gnomAD v4: 9-97675481-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675482del , CM000671.2:g.97675482del	GRCh38
NC_000009.11:g.100437764del , CM000671.1:g.100437764del	GRCh37
NC_000009.10:g.99477585del	NCBI36
NG_011642.1:g.26928del , LRG_471:g.26928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.779del MANE Select	ENSP00000364270.5:p.Thr260IlefsTer9
ENST00000375128.4:c.779del	ENSP00000364270.4:p.Thr260IlefsTer9
ENST00000462523.5:c.*215del	ENSP00000433006.1:n.*215del
ENST00000485042.1:n.291del
NM_000380.3:c.779del , LRG_471t1:c.779del	NP_000371.1:p.Thr260IlefsTer9
NR_027302.1:n.1127del
XM_006717278.1:c.772+7del	XP_006717341.1:n.772+7del
XM_011518988.1:c.772+7del	XP_011517290.1:n.772+7del
NM_001354975.1:c.653del	NP_001341904.1:p.Thr218IlefsTer9
NR_149091.1:n.624del
NR_149092.1:n.790del
NR_149093.1:n.1316del
NR_149094.1:n.1210del
NM_000380.4:c.779del MANE Select	NP_000371.1:p.Thr260IlefsTer9
NM_001354975.2:c.653del	NP_001341904.1:p.Thr218IlefsTer9
NR_027302.2:n.1058del
NR_149091.2:n.555del
NR_149092.2:n.721del
NR_149093.2:n.1247del
NR_149094.2:n.1141del