Canonical Allele Identifier: CA645369440

Gene: PLAG1

Linked Data

• ClinVar Variation Id: 253033
• ClinVar RCV Id: RCV000491883 ; RCV001174522
• dbSNP Id: rs1114167318
• MyVariant Identifiers: chr8:g.57078942del (hg19) ; chr8:g.56166383del (hg38)
• PubMed: PMID:28796236

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56166385del , CM000670.2:g.56166385del	GRCh38
NC_000008.10:g.57078944del , CM000670.1:g.57078944del	GRCh37
NC_000008.9:g.57241498del	NCBI36
NG_023310.1:g.49918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316981.8:c.1363del MANE Select	ENSP00000325546.3:p.Gln455SerfsTer16
ENST00000316981.7:c.1363del	ENSP00000325546.3:p.Gln455SerfsTer16
ENST00000423799.6:c.1117del	ENSP00000404067.2:p.Gln373SerfsTer16
ENST00000429357.2:c.1363del	ENSP00000416537.2:p.Gln455SerfsTer16
ENST00000522009.1:n.1814del
NM_001114634.1:c.1363del	NP_001108106.1:p.Gln455SerfsTer16
NM_001114635.1:c.1117del	NP_001108107.1:p.Gln373SerfsTer16
NM_002655.2:c.1363del	NP_002646.2:p.Gln455SerfsTer16
XM_005251260.2:c.1363del	XP_005251317.1:p.Gln455SerfsTer16
XM_011517544.1:c.1117del	XP_011515846.1:p.Gln373SerfsTer16
XM_011517544.2:c.1117del	XP_011515846.1:p.Gln373SerfsTer16
XM_017013576.1:c.1363del	XP_016869065.1:p.Gln455SerfsTer16
XM_017013577.1:c.1117del	XP_016869066.1:p.Gln373SerfsTer16
NM_002655.3:c.1363del MANE Select	NP_002646.2:p.Gln455SerfsTer16
NM_001114634.2:c.1363del	NP_001108106.1:p.Gln455SerfsTer16
NM_001114635.2:c.1117del	NP_001108107.1:p.Gln373SerfsTer16