Canonical Allele Identifier: CA209336
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46334596_46334634dup , CM000683.2:g.46334596_46334634dup GRCh38
NC_000021.8:g.47754510_47754548dup , CM000683.1:g.47754510_47754548dup GRCh37
NC_000021.7:g.46578938_46578976dup NCBI36
NG_008961.1:g.15475_15513dup
NG_008961.2:g.15475_15513dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000466474.6:c.467_505dup ENSP00000511987.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspH...
ENST00000695525.1:n.553_591dup
ENST00000695526.1:c.407-15_430dup
ENST00000695558.1:c.467_505dup ENSP00000512015.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspH...
ENST00000703224.1:c.467_505dup ENSP00000515242.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspH...
ENST00000703225.1:n.1902_1940dup
ENST00000359568.10:c.467_505dup MANE Select ENSP00000352572.5:p.Gln168_Arg169insHisGlyMetPheThrValSerAspH...
ENST00000359568.9:c.467_505dup ENSP00000352572.5:p.Gln168_Arg169insHisGlyMetPheThrValSerAspH...
ENST00000480896.5:n.736_774dup
ENST00000490468.5:n.555_593dup
NM_001315529.1:c.113_151dup NP_001302458.1:p.Gln50_Arg51insHisGlyMetPheThrValSerAspHisPro...
NM_006031.5:c.467_505dup NP_006022.3:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisProP...
XM_005261124.3:c.467_505dup XP_005261181.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisP...
XM_011529593.1:c.467_505dup XP_011527895.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisP...
XM_011529594.1:c.467_505dup XP_011527896.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisP...
XM_005261124.5:c.467_505dup XP_005261181.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisP...
XM_011529594.3:c.467_505dup XP_011527896.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisP...
XM_017028362.2:c.467_505dup XP_016883851.1:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisP...
XM_017028363.1:c.113_151dup XP_016883852.1:p.Gln50_Arg51insHisGlyMetPheThrValSerAspHisPro...
XM_024452083.1:c.-1642_-1604dup XP_024307851.1:n.-1642_-1604dup
NM_006031.6:c.467_505dup MANE Select NP_006022.3:p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisProP...
NM_001315529.2:c.113_151dup NP_001302458.1:p.Gln50_Arg51insHisGlyMetPheThrValSerAspHisPro...