Canonical Allele Identifier: CA2690901820

Gene: XPA

Linked Data

• gnomAD v4: 9-97675825-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675827dup , CM000671.2:g.97675827dup	GRCh38
NC_000009.11:g.100438109dup , CM000671.1:g.100438109dup	GRCh37
NC_000009.10:g.99477930dup	NCBI36
NG_011642.1:g.26584dup , LRG_471:g.26584dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-239dup MANE Select	ENSP00000364270.5:n.674-239dup
ENST00000375128.4:c.674-239dup	ENSP00000364270.4:n.674-239dup
ENST00000462523.5:c.*110-239dup	ENSP00000433006.1:n.*110-239dup
ENST00000485042.1:n.130dup
NM_000380.3:c.674-239dup , LRG_471t1:c.674-239dup	NP_000371.1:n.674-239dup
NR_027302.1:n.1022-239dup
XM_006717278.1:c.674-239dup	XP_006717341.1:n.674-239dup
XM_011518988.1:c.674-239dup	XP_011517290.1:n.674-239dup
XR_929839.1:n.1149dup
NM_001354975.1:c.548-239dup	NP_001341904.1:n.548-239dup
NR_149091.1:n.519-239dup
NR_149092.1:n.685-239dup
NR_149093.1:n.1155dup
NR_149094.1:n.1049dup
NM_000380.4:c.674-239dup MANE Select	NP_000371.1:n.674-239dup
NM_001354975.2:c.548-239dup	NP_001341904.1:n.548-239dup
NR_027302.2:n.953-239dup
NR_149091.2:n.450-239dup
NR_149092.2:n.616-239dup
NR_149093.2:n.1086dup
NR_149094.2:n.980dup