Canonical Allele Identifier: CA2690901761

Gene: XPA

Linked Data

• gnomAD v4: 9-97675746-A-AAACT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675747_97675750dup , CM000671.2:g.97675747_97675750dup	GRCh38
NC_000009.11:g.100438029_100438032dup , CM000671.1:g.100438029_100438032dup	GRCh37
NC_000009.10:g.99477850_99477853dup	NCBI36
NG_011642.1:g.26660_26663dup , LRG_471:g.26660_26663dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-163_674-160dup MANE Select	ENSP00000364270.5:n.674-163_674-160dup
ENST00000375128.4:c.674-163_674-160dup	ENSP00000364270.4:n.674-163_674-160dup
ENST00000462523.5:c.*110-163_*110-160dup	ENSP00000433006.1:n.*110-163_*110-160dup
ENST00000485042.1:n.185+21_185+24dup
NM_000380.3:c.674-163_674-160dup , LRG_471t1:c.674-163_674-160dup	NP_000371.1:n.674-163_674-160dup
NR_027302.1:n.1022-163_1022-160dup
XM_006717278.1:c.674-163_674-160dup	XP_006717341.1:n.674-163_674-160dup
XM_011518988.1:c.674-163_674-160dup	XP_011517290.1:n.674-163_674-160dup
XR_929839.1:n.1204+21_1204+24dup
NM_001354975.1:c.548-163_548-160dup	NP_001341904.1:n.548-163_548-160dup
NR_149091.1:n.519-163_519-160dup
NR_149092.1:n.685-163_685-160dup
NR_149093.1:n.1210+21_1210+24dup
NR_149094.1:n.1104+21_1104+24dup
NM_000380.4:c.674-163_674-160dup MANE Select	NP_000371.1:n.674-163_674-160dup
NM_001354975.2:c.548-163_548-160dup	NP_001341904.1:n.548-163_548-160dup
NR_027302.2:n.953-163_953-160dup
NR_149091.2:n.450-163_450-160dup
NR_149092.2:n.616-163_616-160dup
NR_149093.2:n.1141+21_1141+24dup
NR_149094.2:n.1035+21_1035+24dup