Canonical Allele Identifier: CA2578351158
Gene: POLK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75586973del , CM000667.2:g.75586973del GRCh38
NC_000005.9:g.74882798del , CM000667.1:g.74882798del GRCh37
NC_000005.8:g.74918554del NCBI36
NG_051590.1:g.80224del

Transcript Alleles

HGVS Amino-acid change
ENST00000241436.9:c.1227-53del MANE Select ENSP00000241436.4:n.1227-53del
ENST00000241436.8:c.1227-53del ENSP00000241436.4:n.1227-53del
ENST00000503479.6:c.1029-53del ENSP00000421997.2:n.1029-53del
ENST00000504026.5:c.1227-53del ENSP00000425075.1:n.1227-53del
ENST00000505975.5:c.1341-53del ENSP00000424859.1:n.1341-53del
ENST00000506928.5:n.1350-53del
ENST00000508526.5:c.934+5525del ENSP00000426853.1:n.934+5525del
ENST00000509126.2:c.1227-53del ENSP00000423532.1:n.1227-53del
ENST00000510815.6:c.957-53del ENSP00000422094.2:n.957-53del
ENST00000511527.5:c.1341-53del ENSP00000420997.1:n.1341-53del
ENST00000514141.5:c.1227-53del ENSP00000423526.1:n.1227-53del
ENST00000515295.5:c.1227-53del ENSP00000424174.1:n.1227-53del
NM_016218.2:c.1227-53del NP_057302.1:n.1227-53del
XM_005248534.3:c.1269-53del XP_005248591.1:n.1269-53del
XM_005248536.2:c.1269-53del XP_005248593.1:n.1269-53del
XM_006714652.2:c.-19-53del XP_006714715.1:n.-19-53del
XM_011543463.1:c.1269-53del XP_011541765.1:n.1269-53del
XM_011543464.1:c.1269-53del XP_011541766.1:n.1269-53del
XM_011543465.1:c.1269-53del XP_011541767.1:n.1269-53del
XM_011543466.1:c.1269-53del XP_011541768.1:n.1269-53del
XM_011543467.1:c.999-53del XP_011541769.1:n.999-53del
XM_011543468.1:c.1227-53del XP_011541770.1:n.1227-53del
XR_241783.2:n.1365-53del
XR_241784.1:n.1323-53del
XR_948273.1:n.1507-53del
NM_001345921.1:c.1029-53del NP_001332850.1:n.1029-53del
NM_001345922.1:c.957-53del NP_001332851.1:n.957-53del
NM_016218.3:c.1227-53del NP_057302.1:n.1227-53del
NR_144315.1:n.1405-53del
XM_005248534.5:c.1269-53del XP_005248591.1:n.1269-53del
XM_006714652.4:c.-19-53del XP_006714715.1:n.-19-53del
XM_011543463.3:c.1269-53del XP_011541765.1:n.1269-53del
XM_011543464.3:c.1269-53del XP_011541766.1:n.1269-53del
XM_011543467.3:c.999-53del XP_011541769.1:n.999-53del
XM_017009559.2:c.1227-53del XP_016865048.1:n.1227-53del
XM_017009560.2:c.1227-53del XP_016865049.1:n.1227-53del
XM_017009561.2:c.1071-53del XP_016865050.1:n.1071-53del
XM_017009563.2:c.957-53del XP_016865052.1:n.957-53del
XR_001742105.2:n.1889-53del
XR_001742107.2:n.1889-53del
XR_001742108.2:n.1507-53del
XR_002956163.1:n.3441-53del
XR_241784.3:n.1847-53del
XR_948273.3:n.1507-53del
NM_001345921.2:c.1029-53del NP_001332850.1:n.1029-53del
NM_001345922.2:c.957-53del NP_001332851.1:n.957-53del
NM_001387110.2:c.1227-53del NP_001374039.1:n.1227-53del
NM_001387111.2:c.1269-53del NP_001374040.1:n.1269-53del
NM_001387113.2:c.1227-53del NP_001374042.1:n.1227-53del
NM_016218.5:c.1227-53del NP_057302.1:n.1227-53del
NR_144315.2:n.1264-53del
NR_170559.2:n.1253-53del
NR_170560.2:n.1401-53del
NM_001345921.3:c.1029-53del NP_001332850.1:n.1029-53del
NM_001345922.3:c.957-53del NP_001332851.1:n.957-53del
NM_001387110.3:c.1227-53del NP_001374039.1:n.1227-53del
NM_001387111.3:c.1269-53del NP_001374040.1:n.1269-53del
NM_001387113.3:c.1227-53del NP_001374042.1:n.1227-53del
NM_001395893.1:c.957-53del NP_001382822.1:n.957-53del
NM_001395894.1:c.1269-53del NP_001382823.1:n.1269-53del
NM_001395897.1:c.1266-53del NP_001382826.1:n.1266-53del
NM_001395899.1:c.1074-53del NP_001382828.1:n.1074-53del
NM_001395900.1:c.1029-53del NP_001382829.1:n.1029-53del
NM_001395901.1:c.987-53del NP_001382830.1:n.987-53del
NM_001395902.1:c.957-53del NP_001382831.1:n.957-53del
NM_016218.6:c.1227-53del MANE Select NP_057302.1:n.1227-53del
NR_144315.3:n.1264-53del
NR_170559.3:n.1253-53del
NR_170560.3:n.1401-53del