Canonical Allele Identifier: CA2690901804

Gene: XPA

Linked Data

• gnomAD v4: 9-97675803-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675804dup , CM000671.2:g.97675804dup	GRCh38
NC_000009.11:g.100438086dup , CM000671.1:g.100438086dup	GRCh37
NC_000009.10:g.99477907dup	NCBI36
NG_011642.1:g.26606dup , LRG_471:g.26606dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-217dup MANE Select	ENSP00000364270.5:n.674-217dup
ENST00000375128.4:c.674-217dup	ENSP00000364270.4:n.674-217dup
ENST00000462523.5:c.*110-217dup	ENSP00000433006.1:n.*110-217dup
ENST00000485042.1:n.152dup
NM_000380.3:c.674-217dup , LRG_471t1:c.674-217dup	NP_000371.1:n.674-217dup
NR_027302.1:n.1022-217dup
XM_006717278.1:c.674-217dup	XP_006717341.1:n.674-217dup
XM_011518988.1:c.674-217dup	XP_011517290.1:n.674-217dup
XR_929839.1:n.1171dup
NM_001354975.1:c.548-217dup	NP_001341904.1:n.548-217dup
NR_149091.1:n.519-217dup
NR_149092.1:n.685-217dup
NR_149093.1:n.1177dup
NR_149094.1:n.1071dup
NM_000380.4:c.674-217dup MANE Select	NP_000371.1:n.674-217dup
NM_001354975.2:c.548-217dup	NP_001341904.1:n.548-217dup
NR_027302.2:n.953-217dup
NR_149091.2:n.450-217dup
NR_149092.2:n.616-217dup
NR_149093.2:n.1108dup
NR_149094.2:n.1002dup