Canonical Allele Identifier: CA645567092
Gene: XPA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675506_97675507del , CM000671.2:g.97675506_97675507del GRCh38
NC_000009.11:g.100437788_100437789del , CM000671.1:g.100437788_100437789del GRCh37
NC_000009.10:g.99477609_99477610del NCBI36
NG_011642.1:g.26903_26904del , LRG_471:g.26903_26904del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.754_755del MANE Select ENSP00000364270.5:p.Leu252ArgfsTer3
ENST00000375128.4:c.754_755del ENSP00000364270.4:p.Leu252ArgfsTer3
ENST00000462523.5:c.*190_*191del ENSP00000433006.1:n.*190_*191del
ENST00000485042.1:n.266_267del
NM_000380.3:c.754_755del , LRG_471t1:c.754_755del NP_000371.1:p.Leu252ArgfsTer3
NR_027302.1:n.1102_1103del
XM_006717278.1:c.754_755del XP_006717341.1:p.Leu252ArgfsTer3
XM_011518988.1:c.754_755del XP_011517290.1:p.Leu252ArgfsTer3
XR_929839.1:n.1285_1286del
NM_001354975.1:c.628_629del NP_001341904.1:p.Leu210ArgfsTer3
NR_149091.1:n.599_600del
NR_149092.1:n.765_766del
NR_149093.1:n.1291_1292del
NR_149094.1:n.1185_1186del
NM_000380.4:c.754_755del MANE Select NP_000371.1:p.Leu252ArgfsTer3
NM_001354975.2:c.628_629del NP_001341904.1:p.Leu210ArgfsTer3
NR_027302.2:n.1033_1034del
NR_149091.2:n.530_531del
NR_149092.2:n.696_697del
NR_149093.2:n.1222_1223del
NR_149094.2:n.1116_1117del