Canonical Allele Identifier: CA16043982

Gene: XPA

Linked Data

• ClinVar Variation Id: 374933
• ClinVar RCV Id: RCV000415712 ; RCV001865309 ; RCV002265751
• dbSNP Id: rs1057519018
• gnomAD v2: 9-100447228-TTC-T
• gnomAD v4: 9-97684946-TTC-T
• MyVariant Identifiers: chr9:g.100447229_100447230del (hg19) ; chr9:g.97684947_97684948del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97684948_97684949del , CM000671.2:g.97684948_97684949del	GRCh38
NC_000009.11:g.100447230_100447231del , CM000671.1:g.100447230_100447231del	GRCh37
NC_000009.10:g.99487051_99487052del	NCBI36
NG_011642.1:g.17462_17463del , LRG_471:g.17462_17463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.648_649del MANE Select	ENSP00000364270.5:p.Lys217GlufsTer3
ENST00000375128.4:c.648_649del	ENSP00000364270.4:p.Lys217GlufsTer3
ENST00000462523.5:c.648_649del	ENSP00000433006.1:p.Lys217GlufsTer3
NM_000380.3:c.648_649del , LRG_471t1:c.648_649del	NP_000371.1:p.Lys217GlufsTer3
NR_027302.1:n.765_766del
XM_006717278.1:c.648_649del	XP_006717341.1:p.Lys217GlufsTer3
XM_011518988.1:c.648_649del	XP_011517290.1:p.Lys217GlufsTer3
XR_929839.1:n.759_760del
NM_001354975.1:c.522_523del	NP_001341904.1:p.Lys175GlufsTer3
NR_149091.1:n.493_494del
NR_149092.1:n.659_660del
NR_149093.1:n.765_766del
NR_149094.1:n.659_660del
NM_000380.4:c.648_649del MANE Select	NP_000371.1:p.Lys217GlufsTer3
NM_001354975.2:c.522_523del	NP_001341904.1:p.Lys175GlufsTer3
NR_027302.2:n.696_697del
NR_149091.2:n.424_425del
NR_149092.2:n.590_591del
NR_149093.2:n.696_697del
NR_149094.2:n.590_591del