Canonical Allele Identifier: CA233256
Gene: PPP3R1 HGNC NCBI

Linked Data

ClinVar Variation Id: 156571
ClinVar RCV Id: RCV000144719
dbSNP Id: rs3039851
gnomAD v2: 2-68445313-ATTAAT-A
gnomAD v3: 2-68218181-ATTAAT-A
gnomAD v4: 2-68218181-ATTAAT-A
MyVariant Identifiers: chr2:g.68445314_68445318del (hg19) chr2:g.68218182_68218186del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68218186_68218190del , CM000664.2:g.68218186_68218190del GRCh38
NC_000002.11:g.68445318_68445322del , CM000664.1:g.68445318_68445322del GRCh37
NC_000002.10:g.68298822_68298826del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000234310.8:c.4-1055_4-1051del MANE Select ENSP00000234310.3:n.4-1055_4-1051del
ENST00000234310.7:c.4-1055_4-1051del ENSP00000234310.3:n.4-1055_4-1051del
ENST00000406334.3:c.-27-1055_-27-1051del ENSP00000384974.3:n.-27-1055_-27-1051del
ENST00000409377.1:c.-27-1055_-27-1051del ENSP00000387148.1:n.-27-1055_-27-1051del
ENST00000409752.5:c.61-1055_61-1051del ENSP00000387216.1:n.61-1055_61-1051del
NM_000945.3:c.4-1055_4-1051del NP_000936.1:n.4-1055_4-1051del
NM_000945.4:c.4-1055_4-1051del MANE Select NP_000936.1:n.4-1055_4-1051del
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