Canonical Allele Identifier: CA589582332

Gene: XPA

Linked Data

• ClinVar Variation Id: 555471
• ClinVar RCV Id: RCV000671297
• dbSNP Id: rs1554699326
• gnomAD v2: 9-100437847-GCTT-G
• gnomAD v4: 9-97675565-GCTT-G
• MyVariant Identifiers: chr9:g.100437848_100437850del (hg19) ; chr9:g.97675566_97675568del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675569_97675571del , CM000671.2:g.97675569_97675571del	GRCh38
NC_000009.11:g.100437851_100437853del , CM000671.1:g.100437851_100437853del	GRCh37
NC_000009.10:g.99477672_99477674del	NCBI36
NG_011642.1:g.26842_26844del , LRG_471:g.26842_26844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.693_695del MANE Select	ENSP00000364270.5:p.Arg231del
ENST00000375128.4:c.693_695del	ENSP00000364270.4:p.Arg231del
ENST00000462523.5:c.*129_*131del	ENSP00000433006.1:n.*129_*131del
ENST00000485042.1:n.205_207del
NM_000380.3:c.693_695del , LRG_471t1:c.693_695del	NP_000371.1:p.Arg231del
NR_027302.1:n.1041_1043del
XM_006717278.1:c.693_695del	XP_006717341.1:p.Arg231del
XM_011518988.1:c.693_695del	XP_011517290.1:p.Arg231del
XR_929839.1:n.1224_1226del
NM_001354975.1:c.567_569del	NP_001341904.1:p.Arg189del
NR_149091.1:n.538_540del
NR_149092.1:n.704_706del
NR_149093.1:n.1230_1232del
NR_149094.1:n.1124_1126del
NM_000380.4:c.693_695del MANE Select	NP_000371.1:p.Arg231del
NM_001354975.2:c.567_569del	NP_001341904.1:p.Arg189del
NR_027302.2:n.972_974del
NR_149091.2:n.469_471del
NR_149092.2:n.635_637del
NR_149093.2:n.1161_1163del
NR_149094.2:n.1055_1057del