Canonical Allele Identifier: CA23067064

Gene: PLPP3

Linked Data

• dbSNP Id: rs560495976
• gnomAD v2: 1-56966418-TAAAATCCCA-T
• gnomAD v3: 1-56500746-TAAAATCCCA-T
• gnomAD v4: 1-56500746-TAAAATCCCA-T
• MyVariant Identifiers: chr1:g.56966419_56966427del (hg19) ; chr1:g.56500747_56500755del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56500747_56500755del , CM000663.2:g.56500747_56500755del	GRCh38
NC_000001.10:g.56966419_56966427del , CM000663.1:g.56966419_56966427del	GRCh37
NC_000001.9:g.56739007_56739015del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371250.4:c.811-4079_811-4071del MANE Select	ENSP00000360296.3:n.811-4079_811-4071del
ENST00000641109.1:c.220-4079_220-4071del	ENSP00000493138.1:n.220-4079_220-4071del
ENST00000641494.1:c.65-4079_65-4071del
ENST00000642129.1:c.455-4079_455-4071del
ENST00000371250.3:c.811-4079_811-4071del	ENSP00000360296.3:n.811-4079_811-4071del
ENST00000459962.1:n.1797-4079_1797-4071del
ENST00000472957.1:n.296-4079_296-4071del
NM_003713.4:c.811-4079_811-4071del	NP_003704.3:n.811-4079_811-4071del
NM_003713.5:c.811-4079_811-4071del MANE Select	NP_003704.3:n.811-4079_811-4071del