Canonical Allele Identifier: CA1866632275

Gene: XPA

Linked Data

• dbSNP Id: rs1828331523

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675517_97675518insAGGGTTTTTTATGGTTTTA , CM000671.2:g.97675517_97675518insAGGGTTTTTTATGGTTTTA	GRCh38
NC_000009.11:g.100437799_100437800insAGGGTTTTTTATGGTTTTA , CM000671.1:g.100437799_100437800insAGGGTTTTTTATGGTTTTA	GRCh37
NC_000009.10:g.99477620_99477621insAGGGTTTTTTATGGTTTTA	NCBI36
NG_011642.1:g.26892_26893insTAAAACCATAAAAAACCCT , LRG_471:g.26892_26893insTAAAACCATAAAAAACCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.743_744insTAAAACCATAAAAAACCCT MANE Select	ENSP00000364270.5:p.Glu249LysfsTer13
ENST00000375128.4:c.743_744insTAAAACCATAAAAAACCCT	ENSP00000364270.4:p.Glu249LysfsTer13
ENST00000462523.5:c.*179_*180insTAAAACCATAAAAAACCCT	ENSP00000433006.1:n.*179_*180insTAAAACCATAAAAAACCCT
ENST00000485042.1:n.255_256insTAAAACCATAAAAAACCCT
NM_000380.3:c.743_744insTAAAACCATAAAAAACCCT , LRG_471t1:c.743_744insTAAAACCATAAAAAACCCT	NP_000371.1:p.Glu249LysfsTer13
NR_027302.1:n.1091_1092insTAAAACCATAAAAAACCCT
XM_006717278.1:c.743_744insTAAAACCATAAAAAACCCT	XP_006717341.1:p.Glu249LysfsTer13
XM_011518988.1:c.743_744insTAAAACCATAAAAAACCCT	XP_011517290.1:p.Glu249LysfsTer13
XR_929839.1:n.1274_1275insTAAAACCATAAAAAACCCT
NM_001354975.1:c.617_618insTAAAACCATAAAAAACCCT	NP_001341904.1:p.Glu207LysfsTer13
NR_149091.1:n.588_589insTAAAACCATAAAAAACCCT
NR_149092.1:n.754_755insTAAAACCATAAAAAACCCT
NR_149093.1:n.1280_1281insTAAAACCATAAAAAACCCT
NR_149094.1:n.1174_1175insTAAAACCATAAAAAACCCT
NM_000380.4:c.743_744insTAAAACCATAAAAAACCCT MANE Select	NP_000371.1:p.Glu249LysfsTer13
NM_001354975.2:c.617_618insTAAAACCATAAAAAACCCT	NP_001341904.1:p.Glu207LysfsTer13
NR_027302.2:n.1022_1023insTAAAACCATAAAAAACCCT
NR_149091.2:n.519_520insTAAAACCATAAAAAACCCT
NR_149092.2:n.685_686insTAAAACCATAAAAAACCCT
NR_149093.2:n.1211_1212insTAAAACCATAAAAAACCCT
NR_149094.2:n.1105_1106insTAAAACCATAAAAAACCCT