Canonical Allele Identifier: CA2392640189
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46366954_46366965delinsCGAGCAGACTTT , CM000683.2:g.46366954_46366965delinsCGAGCAGACTTT GRCh38
NC_000021.8:g.47786869_47786880delinsCGAGCAGACTTT , CM000683.1:g.47786869_47786880delinsCGAGCAGACTTT GRCh37
NC_000021.7:g.46611297_46611308delinsCGAGCAGACTTT NCBI36
NG_008961.1:g.47834_47845delinsCGAGCAGACTTT
NG_008961.2:g.47833_47844delinsCGAGCAGACTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000466474.6:c.*1476_*1487delinsCGAGCAGACTTT ENSP00000511987.1:n.*1476_*1487delinsCGAGCAGACTTT
ENST00000695525.1:n.3066_3077delinsCGAGCAGACTTT
ENST00000695558.1:c.2980_2991delinsCGAGCAGACTTT ENSP00000512015.1:p.Arg994=
ENST00000703224.1:c.*2223_*2234delinsCGAGCAGACTTT ENSP00000515242.1:n.*2223_*2234delinsCGAGCAGACTTT
ENST00000359568.10:c.2980_2991delinsCGAGCAGACTTT MANE Select ENSP00000352572.5:p.Arg994=
ENST00000359568.9:c.2980_2991delinsCGAGCAGACTTT ENSP00000352572.5:p.Arg994=
ENST00000480896.5:n.3249_3260delinsCGAGCAGACTTT
NM_001315529.1:c.2626_2637delinsCGAGCAGACTTT NP_001302458.1:p.Arg876=
NM_006031.5:c.2980_2991delinsCGAGCAGACTTT NP_006022.3:p.Arg994=
XM_005261124.3:c.2980_2991delinsCGAGCAGACTTT XP_005261181.1:p.Arg994=
XM_011529593.1:c.3061_3072delinsCGAGCAGACTTT XP_011527895.1:p.Arg1021=
XM_011529594.1:c.3061_3072delinsCGAGCAGACTTT XP_011527896.1:p.Arg1021=
XM_005261124.5:c.2980_2991delinsCGAGCAGACTTT XP_005261181.1:p.Arg994=
XM_011529594.3:c.3061_3072delinsCGAGCAGACTTT XP_011527896.1:p.Arg1021=
XM_017028362.2:c.2980_2991delinsCGAGCAGACTTT XP_016883851.1:p.Arg994=
XM_017028363.1:c.2626_2637delinsCGAGCAGACTTT XP_016883852.1:p.Arg876=
XM_024452082.1:c.1864_1875delinsCGAGCAGACTTT XP_024307850.1:p.Arg622=
XM_024452083.1:c.760_771delinsCGAGCAGACTTT XP_024307851.1:p.Arg254=
NM_006031.6:c.2980_2991delinsCGAGCAGACTTT MANE Select NP_006022.3:p.Arg994=
NM_001315529.2:c.2626_2637delinsCGAGCAGACTTT NP_001302458.1:p.Arg876=