Canonical Allele Identifier: CA2695201609

Gene: XPA

Linked Data

• ClinVar Variation Id: 2679635
• ClinVar RCV Id: RCV003464892

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675519del , CM000671.2:g.97675519del	GRCh38
NC_000009.11:g.100437801del , CM000671.1:g.100437801del	GRCh37
NC_000009.10:g.99477622del	NCBI36
NG_011642.1:g.26892del , LRG_471:g.26892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.743del MANE Select	ENSP00000364270.5:p.Pro248GlnfsTer5
ENST00000375128.4:c.743del	ENSP00000364270.4:p.Pro248GlnfsTer5
ENST00000462523.5:c.*179del	ENSP00000433006.1:n.*179del
ENST00000485042.1:n.255del
NM_000380.3:c.743del , LRG_471t1:c.743del	NP_000371.1:p.Pro248GlnfsTer5
NR_027302.1:n.1091del
XM_006717278.1:c.743del	XP_006717341.1:p.Pro248GlnfsTer5
XM_011518988.1:c.743del	XP_011517290.1:p.Pro248GlnfsTer5
XR_929839.1:n.1274del
NM_001354975.1:c.617del	NP_001341904.1:p.Pro206GlnfsTer5
NR_149091.1:n.588del
NR_149092.1:n.754del
NR_149093.1:n.1280del
NR_149094.1:n.1174del
NM_000380.4:c.743del MANE Select	NP_000371.1:p.Pro248GlnfsTer5
NM_001354975.2:c.617del	NP_001341904.1:p.Pro206GlnfsTer5
NR_027302.2:n.1022del
NR_149091.2:n.519del
NR_149092.2:n.685del
NR_149093.2:n.1211del
NR_149094.2:n.1105del