Canonical Allele Identifier: CA2573053026

Gene: PLAG1

Linked Data

• ClinVar Variation Id: 1325824
• ClinVar RCV Id: RCV001785361
• dbSNP Id: rs2129224472

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56166990dup , CM000670.2:g.56166990dup	GRCh38
NC_000008.10:g.57079549dup , CM000670.1:g.57079549dup	GRCh37
NC_000008.9:g.57242103dup	NCBI36
NG_023310.1:g.49313dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316981.8:c.758dup MANE Select	ENSP00000325546.3:p.Phe254IlefsTer23
ENST00000316981.7:c.758dup	ENSP00000325546.3:p.Phe254IlefsTer23
ENST00000423799.6:c.512dup	ENSP00000404067.2:p.Phe172IlefsTer23
ENST00000429357.2:c.758dup	ENSP00000416537.2:p.Phe254IlefsTer23
ENST00000522009.1:n.1209dup
NM_001114634.1:c.758dup	NP_001108106.1:p.Phe254IlefsTer23
NM_001114635.1:c.512dup	NP_001108107.1:p.Phe172IlefsTer23
NM_002655.2:c.758dup	NP_002646.2:p.Phe254IlefsTer23
XM_005251260.2:c.758dup	XP_005251317.1:p.Phe254IlefsTer23
XM_011517544.1:c.512dup	XP_011515846.1:p.Phe172IlefsTer23
XM_011517544.2:c.512dup	XP_011515846.1:p.Phe172IlefsTer23
XM_017013576.1:c.758dup	XP_016869065.1:p.Phe254IlefsTer23
XM_017013577.1:c.512dup	XP_016869066.1:p.Phe172IlefsTer23
NM_002655.3:c.758dup MANE Select	NP_002646.2:p.Phe254IlefsTer23
NM_001114634.2:c.758dup	NP_001108106.1:p.Phe254IlefsTer23
NM_001114635.2:c.512dup	NP_001108107.1:p.Phe172IlefsTer23