Canonical Allele Identifier: CA2573143319

Gene: PLAG1

Linked Data

• ClinVar Variation Id: 1687610
• ClinVar RCV Id: RCV002251292
• dbSNP Id: rs2129224609

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56167257_56167305del , CM000670.2:g.56167257_56167305del	GRCh38
NC_000008.10:g.57079816_57079864del , CM000670.1:g.57079816_57079864del	GRCh37
NC_000008.9:g.57242370_57242418del	NCBI36
NG_023310.1:g.48996_49044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316981.8:c.441_489del MANE Select	ENSP00000325546.3:p.Ser147ArgfsTer?
ENST00000316981.7:c.441_489del	ENSP00000325546.3:p.Ser147ArgfsTer?
ENST00000423799.6:c.195_243del	ENSP00000404067.2:p.Ser65ArgfsTer?
ENST00000429357.2:c.441_489del	ENSP00000416537.2:p.Ser147ArgfsTer?
ENST00000522009.1:n.892_940del
NM_001114634.1:c.441_489del	NP_001108106.1:p.Ser147ArgfsTer?
NM_001114635.1:c.195_243del	NP_001108107.1:p.Ser65ArgfsTer?
NM_002655.2:c.441_489del	NP_002646.2:p.Ser147ArgfsTer?
XM_005251260.2:c.441_489del	XP_005251317.1:p.Ser147ArgfsTer?
XM_011517544.1:c.195_243del	XP_011515846.1:p.Ser65ArgfsTer?
XM_011517544.2:c.195_243del	XP_011515846.1:p.Ser65ArgfsTer?
XM_017013576.1:c.441_489del	XP_016869065.1:p.Ser147ArgfsTer?
XM_017013577.1:c.195_243del	XP_016869066.1:p.Ser65ArgfsTer?
NM_002655.3:c.441_489del MANE Select	NP_002646.2:p.Ser147ArgfsTer?
NM_001114634.2:c.441_489del	NP_001108106.1:p.Ser147ArgfsTer?
NM_001114635.2:c.195_243del	NP_001108107.1:p.Ser65ArgfsTer?