Canonical Allele Identifier: CA638499017

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46334634_46334635insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC , CM000683.2:g.46334634_46334635insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	GRCh38
NC_000021.8:g.47754548_47754549insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC , CM000683.1:g.47754548_47754549insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	GRCh37
NC_000021.7:g.46578976_46578977insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	NCBI36
NG_008961.1:g.15513_15514insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC
NG_008961.2:g.15513_15514insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	ENSP00000511987.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspH...
ENST00000695525.1:n.591_592insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC
ENST00000695526.1:c.430_431insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	ENSP00000511988.1:p.Gln143_Arg144insHisGlyMetPheThrValSerAspH...
ENST00000695558.1:c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	ENSP00000512015.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspH...
ENST00000703224.1:c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	ENSP00000515242.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspH...
ENST00000703225.1:n.1940_1941insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC
ENST00000359568.10:c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC MANE Select	ENSP00000352572.5:p.Gln168_Arg169insHisGlyMetPheThrValSerAspH...
ENST00000359568.9:c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	ENSP00000352572.5:p.Gln168_Arg169insHisGlyMetPheThrValSerAspH...
ENST00000480896.5:n.774_775insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC
ENST00000490468.5:n.593_594insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC
NM_001315529.1:c.151_152insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	NP_001302458.1:p.Gln50_Arg51insHisGlyMetPheThrValSerAspHisPro...
NM_006031.5:c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	NP_006022.3:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisProP...
XM_005261124.3:c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	XP_005261181.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisP...
XM_011529593.1:c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	XP_011527895.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisP...
XM_011529594.1:c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	XP_011527896.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisP...
XM_005261124.5:c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	XP_005261181.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisP...
XM_011529594.3:c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	XP_011527896.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisP...
XM_017028362.2:c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	XP_016883851.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisP...
XM_017028363.1:c.151_152insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	XP_016883852.1:p.Gln50_Arg51insHisGlyMetPheThrValSerAspHisPro...
XM_024452083.1:c.-1604_-1603insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	XP_024307851.1:n.-1604_-1603insATGGGATGTTCACAGTCAGTGACCACCCAC...
NM_006031.6:c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC MANE Select	NP_006022.3:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisProP...
NM_001315529.2:c.151_152insATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC	NP_001302458.1:p.Gln50_Arg51insHisGlyMetPheThrValSerAspHisPro...