Canonical Allele Identifier: CA589582333

Gene: XPA

Linked Data

• dbSNP Id: rs1188847886
• gnomAD v2: 9-100437852-T-TTAC
• gnomAD v4: 9-97675570-T-TTAC
• MyVariant Identifiers: chr9:g.100437852_100437853insTAC (hg19) ; chr9:g.97675570_97675571insTAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675572_97675574dup , CM000671.2:g.97675572_97675574dup	GRCh38
NC_000009.11:g.100437854_100437856dup , CM000671.1:g.100437854_100437856dup	GRCh37
NC_000009.10:g.99477675_99477677dup	NCBI36
NG_011642.1:g.26837_26839dup , LRG_471:g.26837_26839dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.688_690dup MANE Select	ENSP00000364270.5:p.Val230_Arg231insVal
ENST00000375128.4:c.688_690dup	ENSP00000364270.4:p.Val230_Arg231insVal
ENST00000462523.5:c.*124_*126dup	ENSP00000433006.1:n.*124_*126dup
ENST00000485042.1:n.200_202dup
NM_000380.3:c.688_690dup , LRG_471t1:c.688_690dup	NP_000371.1:p.Val230_Arg231insVal
NR_027302.1:n.1036_1038dup
XM_006717278.1:c.688_690dup	XP_006717341.1:p.Val230_Arg231insVal
XM_011518988.1:c.688_690dup	XP_011517290.1:p.Val230_Arg231insVal
XR_929839.1:n.1219_1221dup
NM_001354975.1:c.562_564dup	NP_001341904.1:p.Val188_Arg189insVal
NR_149091.1:n.533_535dup
NR_149092.1:n.699_701dup
NR_149093.1:n.1225_1227dup
NR_149094.1:n.1119_1121dup
NM_000380.4:c.688_690dup MANE Select	NP_000371.1:p.Val230_Arg231insVal
NM_001354975.2:c.562_564dup	NP_001341904.1:p.Val188_Arg189insVal
NR_027302.2:n.967_969dup
NR_149091.2:n.464_466dup
NR_149092.2:n.630_632dup
NR_149093.2:n.1156_1158dup
NR_149094.2:n.1050_1052dup