Canonical Allele Identifier: CA2843230697
Gene: POLK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75587078_75587108del , CM000667.2:g.75587078_75587108del GRCh38
NC_000005.9:g.74882903_74882933del , CM000667.1:g.74882903_74882933del GRCh37
NC_000005.8:g.74918659_74918689del NCBI36
NG_051590.1:g.80329_80359del

Transcript Alleles

HGVS Amino-acid Change
ENST00000241436.9:c.1259+20_1259+50del MANE Select ENSP00000241436.4:n.1259+20_1259+50del
ENST00000241436.8:c.1259+20_1259+50del ENSP00000241436.4:n.1259+20_1259+50del
ENST00000503479.6:c.1061+20_1061+50del ENSP00000421997.2:n.1061+20_1061+50del
ENST00000504026.5:c.1259+20_1259+50del ENSP00000425075.1:n.1259+20_1259+50del
ENST00000505975.5:c.1373+20_1373+50del ENSP00000424859.1:n.1373+20_1373+50del
ENST00000506928.5:n.1382+20_1382+50del
ENST00000508526.5:c.934+5630_934+5660del ENSP00000426853.1:n.934+5630_934+5660del
ENST00000509126.2:c.1259+20_1259+50del ENSP00000423532.1:n.1259+20_1259+50del
ENST00000510815.6:c.989+20_989+50del ENSP00000422094.2:n.989+20_989+50del
ENST00000511527.5:c.1373+20_1373+50del ENSP00000420997.1:n.1373+20_1373+50del
ENST00000514141.5:c.1259+20_1259+50del ENSP00000423526.1:n.1259+20_1259+50del
ENST00000515295.5:c.1259+20_1259+50del ENSP00000424174.1:n.1259+20_1259+50del
NM_016218.2:c.1259+20_1259+50del NP_057302.1:n.1259+20_1259+50del
XM_005248534.3:c.1301+20_1301+50del XP_005248591.1:n.1301+20_1301+50del
XM_005248536.2:c.1301+20_1301+50del XP_005248593.1:n.1301+20_1301+50del
XM_006714652.2:c.14+20_14+50del XP_006714715.1:n.14+20_14+50del
XM_011543463.1:c.1301+20_1301+50del XP_011541765.1:n.1301+20_1301+50del
XM_011543464.1:c.1301+20_1301+50del XP_011541766.1:n.1301+20_1301+50del
XM_011543465.1:c.1301+20_1301+50del XP_011541767.1:n.1301+20_1301+50del
XM_011543466.1:c.1301+20_1301+50del XP_011541768.1:n.1301+20_1301+50del
XM_011543467.1:c.1031+20_1031+50del XP_011541769.1:n.1031+20_1031+50del
XM_011543468.1:c.1259+20_1259+50del XP_011541770.1:n.1259+20_1259+50del
XR_241783.2:n.1397+20_1397+50del
XR_241784.1:n.1355+20_1355+50del
XR_948273.1:n.1539+20_1539+50del
NM_001345921.1:c.1061+20_1061+50del NP_001332850.1:n.1061+20_1061+50del
NM_001345922.1:c.989+20_989+50del NP_001332851.1:n.989+20_989+50del
NM_016218.3:c.1259+20_1259+50del NP_057302.1:n.1259+20_1259+50del
NR_144315.1:n.1437+20_1437+50del
XM_005248534.5:c.1301+20_1301+50del XP_005248591.1:n.1301+20_1301+50del
XM_006714652.4:c.14+20_14+50del XP_006714715.1:n.14+20_14+50del
XM_011543463.3:c.1301+20_1301+50del XP_011541765.1:n.1301+20_1301+50del
XM_011543464.3:c.1301+20_1301+50del XP_011541766.1:n.1301+20_1301+50del
XM_011543467.3:c.1031+20_1031+50del XP_011541769.1:n.1031+20_1031+50del
XM_017009559.2:c.1259+20_1259+50del XP_016865048.1:n.1259+20_1259+50del
XM_017009560.2:c.1259+20_1259+50del XP_016865049.1:n.1259+20_1259+50del
XM_017009561.2:c.1103+20_1103+50del XP_016865050.1:n.1103+20_1103+50del
XM_017009563.2:c.989+20_989+50del XP_016865052.1:n.989+20_989+50del
XR_001742105.2:n.1921+20_1921+50del
XR_001742107.2:n.1921+20_1921+50del
XR_001742108.2:n.1539+20_1539+50del
XR_002956163.1:n.3473+20_3473+50del
XR_241784.3:n.1879+20_1879+50del
XR_948273.3:n.1539+20_1539+50del
NM_001345921.2:c.1061+20_1061+50del NP_001332850.1:n.1061+20_1061+50del
NM_001345922.2:c.989+20_989+50del NP_001332851.1:n.989+20_989+50del
NM_001387110.2:c.1259+20_1259+50del NP_001374039.1:n.1259+20_1259+50del
NM_001387111.2:c.1301+20_1301+50del NP_001374040.1:n.1301+20_1301+50del
NM_001387113.2:c.1259+20_1259+50del NP_001374042.1:n.1259+20_1259+50del
NM_016218.5:c.1259+20_1259+50del NP_057302.1:n.1259+20_1259+50del
NR_144315.2:n.1296+20_1296+50del
NR_170559.2:n.1285+20_1285+50del
NR_170560.2:n.1433+20_1433+50del
NM_001345921.3:c.1061+20_1061+50del NP_001332850.1:n.1061+20_1061+50del
NM_001345922.3:c.989+20_989+50del NP_001332851.1:n.989+20_989+50del
NM_001387110.3:c.1259+20_1259+50del NP_001374039.1:n.1259+20_1259+50del
NM_001387111.3:c.1301+20_1301+50del NP_001374040.1:n.1301+20_1301+50del
NM_001387113.3:c.1259+20_1259+50del NP_001374042.1:n.1259+20_1259+50del
NM_001395893.1:c.989+20_989+50del NP_001382822.1:n.989+20_989+50del
NM_001395894.1:c.1301+20_1301+50del NP_001382823.1:n.1301+20_1301+50del
NM_001395897.1:c.1298+20_1298+50del NP_001382826.1:n.1298+20_1298+50del
NM_001395899.1:c.1106+20_1106+50del NP_001382828.1:n.1106+20_1106+50del
NM_001395900.1:c.1061+20_1061+50del NP_001382829.1:n.1061+20_1061+50del
NM_001395901.1:c.1019+20_1019+50del NP_001382830.1:n.1019+20_1019+50del
NM_001395902.1:c.989+20_989+50del NP_001382831.1:n.989+20_989+50del
NM_016218.6:c.1259+20_1259+50del MANE Select NP_057302.1:n.1259+20_1259+50del
NR_144315.3:n.1296+20_1296+50del
NR_170559.3:n.1285+20_1285+50del
NR_170560.3:n.1433+20_1433+50del