Canonical Allele Identifier: CA2580080765

Gene: XPA

Linked Data

• ClinVar Variation Id: 1705178
• ClinVar RCV Id: RCV002281808

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675489_97675493del , CM000671.2:g.97675489_97675493del	GRCh38
NC_000009.11:g.100437771_100437775del , CM000671.1:g.100437771_100437775del	GRCh37
NC_000009.10:g.99477592_99477596del	NCBI36
NG_011642.1:g.26920_26924del , LRG_471:g.26920_26924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.771_775del MANE Select	ENSP00000364270.5:p.Tyr257Ter
ENST00000375128.4:c.771_775del	ENSP00000364270.4:p.Tyr257Ter
ENST00000462523.5:c.*207_*211del	ENSP00000433006.1:n.*207_*211del
ENST00000485042.1:n.283_287del
NM_000380.3:c.771_775del , LRG_471t1:c.771_775del	NP_000371.1:p.Tyr257Ter
NR_027302.1:n.1119_1123del
XM_006717278.1:c.771_772+3del
XM_011518988.1:c.771_772+3del
NM_001354975.1:c.645_649del	NP_001341904.1:p.Tyr215Ter
NR_149091.1:n.616_620del
NR_149092.1:n.782_786del
NR_149093.1:n.1308_1312del
NR_149094.1:n.1202_1206del
NM_000380.4:c.771_775del MANE Select	NP_000371.1:p.Tyr257Ter
NM_001354975.2:c.645_649del	NP_001341904.1:p.Tyr215Ter
NR_027302.2:n.1050_1054del
NR_149091.2:n.547_551del
NR_149092.2:n.713_717del
NR_149093.2:n.1239_1243del
NR_149094.2:n.1133_1137del