Canonical Allele Identifier: CA645615545
Gene: PCNT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46366985del , CM000683.2:g.46366985del GRCh38
NC_000021.8:g.47786900del , CM000683.1:g.47786900del GRCh37
NC_000021.7:g.46611328del NCBI36
NG_008961.1:g.47865del
NG_008961.2:g.47864del

Transcript Alleles

HGVS Amino-acid change
ENST00000466474.6:c.*1507del ENSP00000511987.1:n.*1507del
ENST00000695525.1:n.3097del
ENST00000695558.1:c.3011del ENSP00000512015.1:p.Lys1004ArgfsTer9
ENST00000703224.1:c.*2254del ENSP00000515242.1:n.*2254del
ENST00000359568.10:c.3011del MANE Select ENSP00000352572.5:p.Lys1004ArgfsTer9
ENST00000359568.9:c.3011del ENSP00000352572.5:p.Lys1004ArgfsTer9
ENST00000480896.5:n.3280del
NM_001315529.1:c.2657del NP_001302458.1:p.Lys886ArgfsTer9
NM_006031.5:c.3011del NP_006022.3:p.Lys1004ArgfsTer9
XM_005261124.3:c.3011del XP_005261181.1:p.Lys1004ArgfsTer9
XM_011529593.1:c.3092del XP_011527895.1:p.Lys1031ArgfsTer9
XM_011529594.1:c.3092del XP_011527896.1:p.Lys1031ArgfsTer9
XM_005261124.5:c.3011del XP_005261181.1:p.Lys1004ArgfsTer9
XM_011529594.3:c.3092del XP_011527896.1:p.Lys1031ArgfsTer9
XM_017028362.2:c.3011del XP_016883851.1:p.Lys1004ArgfsTer9
XM_017028363.1:c.2657del XP_016883852.1:p.Lys886ArgfsTer9
XM_024452082.1:c.1895del XP_024307850.1:p.Lys632ArgfsTer9
XM_024452083.1:c.791del XP_024307851.1:p.Lys264ArgfsTer9
NM_006031.6:c.3011del MANE Select NP_006022.3:p.Lys1004ArgfsTer9
NM_001315529.2:c.2657del NP_001302458.1:p.Lys886ArgfsTer9