Canonical Allele Identifier: CA589324705

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97689576_97689580del , CM000671.2:g.97689576_97689580del	GRCh38
NC_000009.11:g.100451858_100451862del , CM000671.1:g.100451858_100451862del	GRCh37
NC_000009.10:g.99491679_99491683del	NCBI36
NG_011642.1:g.12836_12840del , LRG_471:g.12836_12840del

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.349_353del MANE Select	NP_000371.1:p.Leu117GlufsTer4
ENST00000375128.5:c.349_353del MANE Select	ENSP00000364270.5:p.Leu117GlufsTer4
NM_000380.3:c.349_353del , LRG_471t1:c.349_353del	NP_000371.1:p.Leu117GlufsTer4
NM_001354975.1:c.223_227del	NP_001341904.1:p.Leu75GlufsTer4
NM_001354975.2:c.223_227del	NP_001341904.1:p.Leu75GlufsTer4
NR_027302.1:n.466_470del
NR_027302.2:n.397_401del
NR_149091.1:n.400+4075_400+4079del
NR_149091.2:n.331+4075_331+4079del
NR_149092.1:n.401-2313_401-2309del
NR_149092.2:n.332-2313_332-2309del
NR_149093.1:n.466_470del
NR_149093.2:n.397_401del
NR_149094.1:n.401-2313_401-2309del
NR_149094.2:n.332-2313_332-2309del
ENST00000375128.4:c.349_353del	ENSP00000364270.4:p.Leu117GlufsTer4
ENST00000462523.5:c.349_353del	ENSP00000433006.1:p.Leu117GlufsTer4
ENST00000496104.1:n.184-2313_184-2309del
XM_006717278.1:c.349_353del	XP_006717341.1:p.Leu117GlufsTer4
XM_011518988.1:c.349_353del	XP_011517290.1:p.Leu117GlufsTer4
XR_929839.1:n.460_464del