Canonical Allele Identifier: CA737145210

Gene: PLPP3

Linked Data

• dbSNP Id: rs1439513052
• gnomAD v3: 1-56500840-AC-A
• gnomAD v4: 1-56500840-AC-A
• MyVariant Identifiers: chr1:g.56966513del (hg19) ; chr1:g.56500841del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56500841del , CM000663.2:g.56500841del	GRCh38
NC_000001.10:g.56966513del , CM000663.1:g.56966513del	GRCh37
NC_000001.9:g.56739101del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371250.4:c.811-4165del MANE Select	ENSP00000360296.3:n.811-4165del
ENST00000641109.1:c.220-4165del	ENSP00000493138.1:n.220-4165del
ENST00000641494.1:c.65-4165del
ENST00000642129.1:c.455-4165del
ENST00000371250.3:c.811-4165del	ENSP00000360296.3:n.811-4165del
ENST00000459962.1:n.1797-4165del
ENST00000472957.1:n.296-4165del
NM_003713.4:c.811-4165del	NP_003704.3:n.811-4165del
NM_003713.5:c.811-4165del MANE Select	NP_003704.3:n.811-4165del