Canonical Allele Identifier: CA251043
Gene: PCNT HGNC NCBI

Linked Data

ClinVar Variation Id: 159580
ClinVar RCV Id: RCV000147105 RCV000296415
dbSNP Id: rs587784302
MyVariant Identifiers: chr21:g.47786873_47786883del (hg19) chr21:g.46366958_46366968del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46366958_46366968del , CM000683.2:g.46366958_46366968del GRCh38
NC_000021.8:g.47786873_47786883del , CM000683.1:g.47786873_47786883del GRCh37
NC_000021.7:g.46611301_46611311del NCBI36
NG_008961.1:g.47838_47848del
NG_008961.2:g.47837_47847del

Transcript Alleles

HGVS Amino-acid change
ENST00000466474.6:c.*1480_*1490del ENSP00000511987.1:n.*1480_*1490del
ENST00000695525.1:n.3070_3080del
ENST00000695558.1:c.2984_2994del ENSP00000512015.1:p.Ala995GlyfsTer?
ENST00000703224.1:c.*2227_*2237del ENSP00000515242.1:n.*2227_*2237del
ENST00000359568.10:c.2984_2994del MANE Select ENSP00000352572.5:p.Ala995GlyfsTer?
ENST00000359568.9:c.2984_2994del ENSP00000352572.5:p.Ala995GlyfsTer?
ENST00000480896.5:n.3253_3263del
NM_001315529.1:c.2630_2640del NP_001302458.1:p.Ala877GlyfsTer?
NM_006031.5:c.2984_2994del NP_006022.3:p.Ala995GlyfsTer?
XM_005261124.3:c.2984_2994del XP_005261181.1:p.Ala995GlyfsTer?
XM_011529593.1:c.3065_3075del XP_011527895.1:p.Ala1022GlyfsTer?
XM_011529594.1:c.3065_3075del XP_011527896.1:p.Ala1022GlyfsTer?
XM_005261124.5:c.2984_2994del XP_005261181.1:p.Ala995GlyfsTer?
XM_011529594.3:c.3065_3075del XP_011527896.1:p.Ala1022GlyfsTer?
XM_017028362.2:c.2984_2994del XP_016883851.1:p.Ala995GlyfsTer?
XM_017028363.1:c.2630_2640del XP_016883852.1:p.Ala877GlyfsTer?
XM_024452082.1:c.1868_1878del XP_024307850.1:p.Ala623GlyfsTer?
XM_024452083.1:c.764_774del XP_024307851.1:p.Ala255GlyfsTer?
NM_006031.6:c.2984_2994del MANE Select NP_006022.3:p.Ala995GlyfsTer?
NM_001315529.2:c.2630_2640del NP_001302458.1:p.Ala877GlyfsTer?
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