Canonical Allele Identifier: CA638499670

Gene: PCNT

Linked Data

• ClinVar Variation Id: 2737018
• ClinVar RCV Id: RCV003560169
• dbSNP Id: rs1477842688
• gnomAD v2: 21-47855909-TG-T
• MyVariant Identifiers: chr21:g.47855910del (hg19) ; chr21:g.46435997del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46435998del , CM000683.2:g.46435998del	GRCh38
NC_000021.8:g.47855911del , CM000683.1:g.47855911del	GRCh37
NC_000021.7:g.46680339del	NCBI36
NG_008961.1:g.116876del
NG_008961.2:g.116877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1428del
ENST00000695527.1:n.3191del
ENST00000695528.1:c.2879del	ENSP00000511990.1:p.Gly960AlafsTer6
ENST00000695529.1:n.2642del
ENST00000695530.1:c.1428del
ENST00000695531.1:n.2448del
ENST00000695532.1:n.2448del
ENST00000695533.1:n.1516del
ENST00000695534.1:n.1240del
ENST00000695535.1:n.321del
ENST00000695558.1:c.8879del	ENSP00000512015.1:p.Gly2960AlafsTer6
ENST00000703224.1:c.*8089del	ENSP00000515242.1:n.*8089del
ENST00000703226.1:n.1516del
ENST00000359568.10:c.8846del MANE Select	ENSP00000352572.5:p.Gly2949AlafsTer6
ENST00000359568.9:c.8846del	ENSP00000352572.5:p.Gly2949AlafsTer6
ENST00000480896.5:n.8878del
NM_001315529.1:c.8255del	NP_001302458.1:p.Gly2752AlafsTer6
NM_006031.5:c.8846del	NP_006022.3:p.Gly2949AlafsTer6
XM_005261124.3:c.8879del	XP_005261181.1:p.Gly2960AlafsTer6
XM_011529593.1:c.8957del	XP_011527895.1:p.Gly2986AlafsTer6
XM_011529594.1:c.8927del	XP_011527896.1:p.Gly2976AlafsTer6
XM_005261124.5:c.8879del	XP_005261181.1:p.Gly2960AlafsTer6
XM_011529594.3:c.8927del	XP_011527896.1:p.Gly2976AlafsTer6
XM_017028362.2:c.8609del	XP_016883851.1:p.Gly2870AlafsTer6
XM_017028363.1:c.8525del	XP_016883852.1:p.Gly2842AlafsTer6
XM_024452082.1:c.7763del	XP_024307850.1:p.Gly2588AlafsTer6
XM_024452083.1:c.6659del	XP_024307851.1:p.Gly2220AlafsTer6
NM_006031.6:c.8846del MANE Select	NP_006022.3:p.Gly2949AlafsTer6
NM_001315529.2:c.8255del	NP_001302458.1:p.Gly2752AlafsTer6