Canonical Allele Identifier: CA2591490336
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46334626_46334627insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC , CM000683.2:g.46334626_46334627insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC GRCh38
NC_000021.8:g.47754540_47754541insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC , CM000683.1:g.47754540_47754541insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC GRCh37
NC_000021.7:g.46578968_46578969insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC NCBI36
NG_008961.1:g.15505_15506insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC
NG_008961.2:g.15505_15506insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000466474.6:c.497_498insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC ENSP00000511987.1:p.Pro166_Glu167insGluGlnHisGlyMetPheThrValS...
ENST00000695525.1:n.583_584insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC
ENST00000695526.1:c.422_423insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC
ENST00000695558.1:c.497_498insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC ENSP00000512015.1:p.Pro166_Glu167insGluGlnHisGlyMetPheThrValS...
ENST00000703224.1:c.497_498insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC ENSP00000515242.1:p.Pro166_Glu167insGluGlnHisGlyMetPheThrValS...
ENST00000703225.1:n.1932_1933insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC
ENST00000359568.10:c.497_498insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC MANE Select ENSP00000352572.5:p.Pro166_Glu167insGluGlnHisGlyMetPheThrValS...
ENST00000359568.9:c.497_498insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC ENSP00000352572.5:p.Pro166_Glu167insGluGlnHisGlyMetPheThrValS...
ENST00000480896.5:n.766_767insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC
ENST00000490468.5:n.585_586insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC
NM_001315529.1:c.143_144insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC NP_001302458.1:p.Pro48_Glu49insGluGlnHisGlyMetPheThrValSerAsp...
NM_006031.5:c.497_498insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC NP_006022.3:p.Pro166_Glu167insGluGlnHisGlyMetPheThrValSerAspH...
XM_005261124.3:c.497_498insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC XP_005261181.1:p.Pro166_Glu167insGluGlnHisGlyMetPheThrValSerA...
XM_011529593.1:c.497_498insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC XP_011527895.1:p.Pro166_Glu167insGluGlnHisGlyMetPheThrValSerA...
XM_011529594.1:c.497_498insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC XP_011527896.1:p.Pro166_Glu167insGluGlnHisGlyMetPheThrValSerA...
XM_005261124.5:c.497_498insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC XP_005261181.1:p.Pro166_Glu167insGluGlnHisGlyMetPheThrValSerA...
XM_011529594.3:c.497_498insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC XP_011527896.1:p.Pro166_Glu167insGluGlnHisGlyMetPheThrValSerA...
XM_017028362.2:c.497_498insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC XP_016883851.1:p.Pro166_Glu167insGluGlnHisGlyMetPheThrValSerA...
XM_017028363.1:c.143_144insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC XP_016883852.1:p.Pro48_Glu49insGluGlnHisGlyMetPheThrValSerAsp...
XM_024452083.1:c.-1612_-1611insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC XP_024307851.1:n.-1612_-1611insGGAACAGCATGGGATGTTCACAGTCAGTGA...
NM_006031.6:c.497_498insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC MANE Select NP_006022.3:p.Pro166_Glu167insGluGlnHisGlyMetPheThrValSerAspH...
NM_001315529.2:c.143_144insGGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACC NP_001302458.1:p.Pro48_Glu49insGluGlnHisGlyMetPheThrValSerAsp...