Canonical Allele Identifier: CA196742247

Gene: XPA

Linked Data

• dbSNP Id: rs548027430
• gnomAD v4: 9-97675756-A-AACTT
• MyVariant Identifiers: chr9:g.100438038_100438039insACTT (hg19) ; chr9:g.97675756_97675757insACTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675761_97675764dup , CM000671.2:g.97675761_97675764dup	GRCh38
NC_000009.11:g.100438043_100438046dup , CM000671.1:g.100438043_100438046dup	GRCh37
NC_000009.10:g.99477864_99477867dup	NCBI36
NG_011642.1:g.26650_26653dup , LRG_471:g.26650_26653dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-173_674-170dup MANE Select	ENSP00000364270.5:n.674-173_674-170dup
ENST00000375128.4:c.674-173_674-170dup	ENSP00000364270.4:n.674-173_674-170dup
ENST00000462523.5:c.*110-173_*110-170dup	ENSP00000433006.1:n.*110-173_*110-170dup
ENST00000485042.1:n.185+11_185+14dup
NM_000380.3:c.674-173_674-170dup , LRG_471t1:c.674-173_674-170dup	NP_000371.1:n.674-173_674-170dup
NR_027302.1:n.1022-173_1022-170dup
XM_006717278.1:c.674-173_674-170dup	XP_006717341.1:n.674-173_674-170dup
XM_011518988.1:c.674-173_674-170dup	XP_011517290.1:n.674-173_674-170dup
XR_929839.1:n.1204+11_1204+14dup
NM_001354975.1:c.548-173_548-170dup	NP_001341904.1:n.548-173_548-170dup
NR_149091.1:n.519-173_519-170dup
NR_149092.1:n.685-173_685-170dup
NR_149093.1:n.1210+11_1210+14dup
NR_149094.1:n.1104+11_1104+14dup
NM_000380.4:c.674-173_674-170dup MANE Select	NP_000371.1:n.674-173_674-170dup
NM_001354975.2:c.548-173_548-170dup	NP_001341904.1:n.548-173_548-170dup
NR_027302.2:n.953-173_953-170dup
NR_149091.2:n.450-173_450-170dup
NR_149092.2:n.616-173_616-170dup
NR_149093.2:n.1141+11_1141+14dup
NR_149094.2:n.1035+11_1035+14dup