Canonical Allele Identifier: CA16621034
Gene: PCNT HGNC NCBI

Linked Data

dbSNP Id: rs1064793985
MyVariant Identifiers: chr21:g.47836198_47836199del (hg19) chr21:g.46416284_46416285del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46416284_46416285del , CM000683.2:g.46416284_46416285del GRCh38
NC_000021.8:g.47836198_47836199del , CM000683.1:g.47836198_47836199del GRCh37
NC_000021.7:g.46660626_46660627del NCBI36
NG_008961.1:g.97163_97164del
NG_008961.2:g.97163_97164del

Transcript Alleles

HGVS Amino-acid change
ENST00000695527.1:n.711_712del
ENST00000695528.1:c.540_541del ENSP00000511990.1:p.Ser181ThrfsTer7
ENST00000695529.1:n.540_541del
ENST00000695558.1:c.6399_6400del ENSP00000512015.1:p.Ser2134ThrfsTer7
ENST00000703224.1:c.*5609_*5610del ENSP00000515242.1:n.*5609_*5610del
ENST00000359568.10:c.6366_6367del MANE Select ENSP00000352572.5:p.Ser2123ThrfsTer7
ENST00000359568.9:c.6366_6367del ENSP00000352572.5:p.Ser2123ThrfsTer7
ENST00000480896.5:n.6635_6636del
NM_001315529.1:c.6012_6013del NP_001302458.1:p.Ser2005ThrfsTer7
NM_006031.5:c.6366_6367del NP_006022.3:p.Ser2123ThrfsTer7
XM_005261124.3:c.6399_6400del XP_005261181.1:p.Ser2134ThrfsTer7
XM_011529593.1:c.6477_6478del XP_011527895.1:p.Ser2160ThrfsTer7
XM_011529594.1:c.6447_6448del XP_011527896.1:p.Ser2150ThrfsTer7
XM_005261124.5:c.6399_6400del XP_005261181.1:p.Ser2134ThrfsTer7
XM_011529594.3:c.6447_6448del XP_011527896.1:p.Ser2150ThrfsTer7
XM_017028362.2:c.6366_6367del XP_016883851.1:p.Ser2123ThrfsTer7
XM_017028363.1:c.6045_6046del XP_016883852.1:p.Ser2016ThrfsTer7
XM_024452082.1:c.5283_5284del XP_024307850.1:p.Ser1762ThrfsTer7
XM_024452083.1:c.4179_4180del XP_024307851.1:p.Ser1394ThrfsTer7
NM_006031.6:c.6366_6367del MANE Select NP_006022.3:p.Ser2123ThrfsTer7
NM_001315529.2:c.6012_6013del NP_001302458.1:p.Ser2005ThrfsTer7
Search 100 bp 5'
Search 100 bp 3'