Canonical Allele Identifier: CA251117
Gene: PCNT HGNC NCBI

Linked Data

ClinVar Variation Id: 159677
ClinVar RCV Id: RCV003718123
dbSNP Id: rs587784320
ExAC: 21:47855932 C / CT
gnomAD v2: 21-47855932-C-CT
gnomAD v4: 21-46436019-C-CT
MyVariant Identifiers: chr21:g.47855933dupT (hg19) chr21:g.47855932_47855933insT (hg19) chr21:g.46436020dupT (hg38) chr21:g.46436019_46436020insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46436020dup , CM000683.2:g.46436020dup GRCh38
NC_000021.8:g.47855933dup , CM000683.1:g.47855933dup GRCh37
NC_000021.7:g.46680361dup NCBI36
NG_008961.1:g.116898dup
NG_008961.2:g.116899dup

Transcript Alleles

HGVS Amino-acid change
ENST00000418394.2:c.1450dup
ENST00000695527.1:n.3213dup
ENST00000695528.1:c.2901dup ENSP00000511990.1:p.Ala968CysfsTer?
ENST00000695529.1:n.2664dup
ENST00000695530.1:c.1450dup
ENST00000695531.1:n.2470dup
ENST00000695532.1:n.2470dup
ENST00000695533.1:n.1538dup
ENST00000695534.1:n.1262dup
ENST00000695535.1:n.343dup
ENST00000695558.1:c.8901dup ENSP00000512015.1:p.Ala2968CysfsTer?
ENST00000703224.1:c.*8111dup ENSP00000515242.1:n.*8111dup
ENST00000703226.1:n.1538dup
ENST00000359568.10:c.8868dup MANE Select ENSP00000352572.5:p.Ala2957CysfsTer?
ENST00000359568.9:c.8868dup ENSP00000352572.5:p.Ala2957CysfsTer?
ENST00000480896.5:n.8900dup
NM_001315529.1:c.8277dup NP_001302458.1:p.Ala2760CysfsTer?
NM_006031.5:c.8868dup NP_006022.3:p.Ala2957CysfsTer?
XM_005261124.3:c.8901dup XP_005261181.1:p.Ala2968CysfsTer?
XM_011529593.1:c.8979dup XP_011527895.1:p.Ala2994CysfsTer?
XM_011529594.1:c.8949dup XP_011527896.1:p.Ala2984CysfsTer?
XM_005261124.5:c.8901dup XP_005261181.1:p.Ala2968CysfsTer?
XM_011529594.3:c.8949dup XP_011527896.1:p.Ala2984CysfsTer?
XM_017028362.2:c.8631dup XP_016883851.1:p.Ala2878CysfsTer?
XM_017028363.1:c.8547dup XP_016883852.1:p.Ala2850CysfsTer?
XM_024452082.1:c.7785dup XP_024307850.1:p.Ala2596CysfsTer?
XM_024452083.1:c.6681dup XP_024307851.1:p.Ala2228CysfsTer?
NM_006031.6:c.8868dup MANE Select NP_006022.3:p.Ala2957CysfsTer?
NM_001315529.2:c.8277dup NP_001302458.1:p.Ala2760CysfsTer?
Search 100 bp 5'
Search 100 bp 3'