Canonical Allele Identifier: CA2580080767

Gene: XPA

Linked Data

• ClinVar Variation Id: 2167717
• ClinVar RCV Id: RCV003100168

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675537dup , CM000671.2:g.97675537dup	GRCh38
NC_000009.11:g.100437819dup , CM000671.1:g.100437819dup	GRCh37
NC_000009.10:g.99477640dup	NCBI36
NG_011642.1:g.26873dup , LRG_471:g.26873dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.724dup MANE Select	ENSP00000364270.5:p.His242ProfsTer4
ENST00000375128.4:c.724dup	ENSP00000364270.4:p.His242ProfsTer4
ENST00000462523.5:c.*160dup	ENSP00000433006.1:n.*160dup
ENST00000485042.1:n.236dup
NM_000380.3:c.724dup , LRG_471t1:c.724dup	NP_000371.1:p.His242ProfsTer4
NR_027302.1:n.1072dup
XM_006717278.1:c.724dup	XP_006717341.1:p.His242ProfsTer4
XM_011518988.1:c.724dup	XP_011517290.1:p.His242ProfsTer4
XR_929839.1:n.1255dup
NM_001354975.1:c.598dup	NP_001341904.1:p.His200ProfsTer4
NR_149091.1:n.569dup
NR_149092.1:n.735dup
NR_149093.1:n.1261dup
NR_149094.1:n.1155dup
NM_000380.4:c.724dup MANE Select	NP_000371.1:p.His242ProfsTer4
NM_001354975.2:c.598dup	NP_001341904.1:p.His200ProfsTer4
NR_027302.2:n.1003dup
NR_149091.2:n.500dup
NR_149092.2:n.666dup
NR_149093.2:n.1192dup
NR_149094.2:n.1086dup