Canonical Allele Identifier: CA5148670

Gene: XPA

Linked Data

• ClinVar Variation Id: 523608
• ClinVar RCV Id: RCV000667095 ; RCV001291566
• dbSNP Id: rs778543124
• ExAC: 9:100437757 AGTACAAGTCTTACG / A
• gnomAD v2: 9-100437757-AGTACAAGTCTTACG-A
• gnomAD v3: 9-97675475-AGTACAAGTCTTACG-A
• gnomAD v4: 9-97675475-AGTACAAGTCTTACG-A
• MyVariant Identifiers: chr9:g.100437758_100437771del (hg19) ; chr9:g.97675476_97675489del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675481_97675494del , CM000671.2:g.97675481_97675494del	GRCh38
NC_000009.11:g.100437763_100437776del , CM000671.1:g.100437763_100437776del	GRCh37
NC_000009.10:g.99477584_99477597del	NCBI36
NG_011642.1:g.26921_26934del , LRG_471:g.26921_26934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.772_785del MANE Select	ENSP00000364270.5:p.Arg258TyrfsTer5
ENST00000375128.4:c.772_785del	ENSP00000364270.4:p.Arg258TyrfsTer5
ENST00000462523.5:c.*208_*221del	ENSP00000433006.1:n.*208_*221del
ENST00000485042.1:n.284_297del
NM_000380.3:c.772_785del , LRG_471t1:c.772_785del	NP_000371.1:p.Arg258TyrfsTer5
NR_027302.1:n.1120_1133del
XM_006717278.1:c.772_772+13del
XM_011518988.1:c.772_772+13del
NM_001354975.1:c.646_659del	NP_001341904.1:p.Arg216TyrfsTer5
NR_149091.1:n.617_630del
NR_149092.1:n.783_796del
NR_149093.1:n.1309_1322del
NR_149094.1:n.1203_1216del
NM_000380.4:c.772_785del MANE Select	NP_000371.1:p.Arg258TyrfsTer5
NM_001354975.2:c.646_659del	NP_001341904.1:p.Arg216TyrfsTer5
NR_027302.2:n.1051_1064del
NR_149091.2:n.548_561del
NR_149092.2:n.714_727del
NR_149093.2:n.1240_1253del
NR_149094.2:n.1134_1147del