Canonical Allele Identifier: CA2695210833

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675540dup , CM000671.2:g.97675540dup	GRCh38
NC_000009.11:g.100437822dup , CM000671.1:g.100437822dup	GRCh37
NC_000009.10:g.99477643dup	NCBI36
NG_011642.1:g.26870dup , LRG_471:g.26870dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.721dup MANE Select	ENSP00000364270.5:p.Val241GlyfsTer5
ENST00000375128.4:c.721dup	ENSP00000364270.4:p.Val241GlyfsTer5
ENST00000462523.5:c.*157dup	ENSP00000433006.1:n.*157dup
ENST00000485042.1:n.233dup
NM_000380.3:c.721dup , LRG_471t1:c.721dup	NP_000371.1:p.Val241GlyfsTer5
NR_027302.1:n.1069dup
XM_006717278.1:c.721dup	XP_006717341.1:p.Val241GlyfsTer5
XM_011518988.1:c.721dup	XP_011517290.1:p.Val241GlyfsTer5
XR_929839.1:n.1252dup
NM_001354975.1:c.595dup	NP_001341904.1:p.Val199GlyfsTer5
NR_149091.1:n.566dup
NR_149092.1:n.732dup
NR_149093.1:n.1258dup
NR_149094.1:n.1152dup
NM_000380.4:c.721dup MANE Select	NP_000371.1:p.Val241GlyfsTer5
NM_001354975.2:c.595dup	NP_001341904.1:p.Val199GlyfsTer5
NR_027302.2:n.1000dup
NR_149091.2:n.497dup
NR_149092.2:n.663dup
NR_149093.2:n.1189dup
NR_149094.2:n.1083dup