Canonical Allele Identifier: CA1556178914

Gene: POLK

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75598007_75598019delinsTTTTTTAAGTAAA , CM000667.2:g.75598007_75598019delinsTTTTTTAAGTAAA	GRCh38
NC_000005.9:g.74893832_74893844delinsTTTTTTAAGTAAA , CM000667.1:g.74893832_74893844delinsTTTTTTAAGTAAA	GRCh37
NC_000005.8:g.74929588_74929600delinsTTTTTTAAGTAAA	NCBI36
NG_051590.1:g.91258_91270delinsTTTTTTAAGTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2602_*1delinsTTTTTTAAGTAAA MANE Select	ENSP00000241436.4:n.[c.2602_*1delinsTTTTTTAAGTAAA;Phe868=]
ENST00000241436.8:c.2602_*1delinsTTTTTTAAGTAAA	ENSP00000241436.4:n.[c.2602_*1delinsTTTTTTAAGTAAA;Phe868=]
ENST00000503479.6:c.*1125_*1137delinsTTTTTTAAGTAAA	ENSP00000421997.2:n.*1125_*1137delinsTTTTTTAAGTAAA
ENST00000505069.1:n.326_338delinsTTTTTTAAGTAAA
ENST00000506928.5:n.2725_2737delinsTTTTTTAAGTAAA
ENST00000510815.6:c.*1125_*1137delinsTTTTTTAAGTAAA	ENSP00000422094.2:n.*1125_*1137delinsTTTTTTAAGTAAA
ENST00000514141.5:c.*1221_*1233delinsTTTTTTAAGTAAA	ENSP00000423526.1:n.*1221_*1233delinsTTTTTTAAGTAAA
NM_016218.2:c.2602_*1delinsTTTTTTAAGTAAA	NP_057302.1:n.[c.2602_*1delinsTTTTTTAAGTAAA;Phe868=]
XM_005248534.3:c.2644_*1delinsTTTTTTAAGTAAA	XP_005248591.1:n.[c.2644_*1delinsTTTTTTAAGTAAA;Phe882=]
XM_006714652.2:c.1357_*1delinsTTTTTTAAGTAAA	XP_006714715.1:n.[c.1357_*1delinsTTTTTTAAGTAAA;Phe453=]
XM_011543463.1:c.2644_*1delinsTTTTTTAAGTAAA	XP_011541765.1:n.[c.2644_*1delinsTTTTTTAAGTAAA;Phe882=]
XM_011543464.1:c.2644_*1delinsTTTTTTAAGTAAA	XP_011541766.1:n.[c.2644_*1delinsTTTTTTAAGTAAA;Phe882=]
XM_011543465.1:c.2644_*1delinsTTTTTTAAGTAAA	XP_011541767.1:n.[c.2644_*1delinsTTTTTTAAGTAAA;Phe882=]
XM_011543466.1:c.2644_*1delinsTTTTTTAAGTAAA	XP_011541768.1:n.[c.2644_*1delinsTTTTTTAAGTAAA;Phe882=]
XM_011543467.1:c.2374_*1delinsTTTTTTAAGTAAA	XP_011541769.1:n.[c.2374_*1delinsTTTTTTAAGTAAA;Phe792=]
XR_241784.1:n.2610_2622delinsTTTTTTAAGTAAA
XR_948273.1:n.2794_2806delinsTTTTTTAAGTAAA
NM_001345921.1:c.2404_*1delinsTTTTTTAAGTAAA	NP_001332850.1:n.[c.2404_*1delinsTTTTTTAAGTAAA;Phe802=]
NM_001345922.1:c.2332_*1delinsTTTTTTAAGTAAA	NP_001332851.1:n.[c.2332_*1delinsTTTTTTAAGTAAA;Phe778=]
NM_016218.3:c.2602_*1delinsTTTTTTAAGTAAA	NP_057302.1:n.[c.2602_*1delinsTTTTTTAAGTAAA;Phe868=]
NR_144315.1:n.2608_2620delinsTTTTTTAAGTAAA
XM_005248534.5:c.2644_*1delinsTTTTTTAAGTAAA	XP_005248591.1:n.[c.2644_*1delinsTTTTTTAAGTAAA;Phe882=]
XM_006714652.4:c.1357_*1delinsTTTTTTAAGTAAA	XP_006714715.1:n.[c.1357_*1delinsTTTTTTAAGTAAA;Phe453=]
XM_011543463.3:c.2644_*1delinsTTTTTTAAGTAAA	XP_011541765.1:n.[c.2644_*1delinsTTTTTTAAGTAAA;Phe882=]
XM_011543464.3:c.2644_*1delinsTTTTTTAAGTAAA	XP_011541766.1:n.[c.2644_*1delinsTTTTTTAAGTAAA;Phe882=]
XM_011543467.3:c.2374_*1delinsTTTTTTAAGTAAA	XP_011541769.1:n.[c.2374_*1delinsTTTTTTAAGTAAA;Phe792=]
XM_017009559.2:c.2602_*1delinsTTTTTTAAGTAAA	XP_016865048.1:n.[c.2602_*1delinsTTTTTTAAGTAAA;Phe868=]
XM_017009560.2:c.2602_*1delinsTTTTTTAAGTAAA	XP_016865049.1:n.[c.2602_*1delinsTTTTTTAAGTAAA;Phe868=]
XM_017009561.2:c.2446_*1delinsTTTTTTAAGTAAA	XP_016865050.1:n.[c.2446_*1delinsTTTTTTAAGTAAA;Phe816=]
XM_017009563.2:c.2332_*1delinsTTTTTTAAGTAAA	XP_016865052.1:n.[c.2332_*1delinsTTTTTTAAGTAAA;Phe778=]
XR_001742105.2:n.3092_3104delinsTTTTTTAAGTAAA
XR_001742107.2:n.3176_3188delinsTTTTTTAAGTAAA
XR_001742108.2:n.2710_2722delinsTTTTTTAAGTAAA
XR_241784.3:n.3134_3146delinsTTTTTTAAGTAAA
XR_948273.3:n.2794_2806delinsTTTTTTAAGTAAA
NM_001345921.2:c.2404_*1delinsTTTTTTAAGTAAA	NP_001332850.1:n.[c.2404_*1delinsTTTTTTAAGTAAA;Phe802=]
NM_001345922.2:c.2332_*1delinsTTTTTTAAGTAAA	NP_001332851.1:n.[c.2332_*1delinsTTTTTTAAGTAAA;Phe778=]
NM_001387110.2:c.2593_*1delinsTTTTTTAAGTAAA	NP_001374039.1:n.[c.2593_*1delinsTTTTTTAAGTAAA;Phe865=]
NM_001387111.2:c.2644_*1delinsTTTTTTAAGTAAA	NP_001374040.1:n.[c.2644_*1delinsTTTTTTAAGTAAA;Phe882=]
NM_001387113.2:c.2602_*1delinsTTTTTTAAGTAAA	NP_001374042.1:n.[c.2602_*1delinsTTTTTTAAGTAAA;Phe868=]
NM_016218.5:c.2602_*1delinsTTTTTTAAGTAAA	NP_057302.1:n.[c.2602_*1delinsTTTTTTAAGTAAA;Phe868=]
NR_144315.2:n.2467_2479delinsTTTTTTAAGTAAA
NR_170559.2:n.2456_2468delinsTTTTTTAAGTAAA
NR_170560.2:n.2688_2700delinsTTTTTTAAGTAAA
NM_001345921.3:c.2404_*1delinsTTTTTTAAGTAAA	NP_001332850.1:n.[c.2404_*1delinsTTTTTTAAGTAAA;Phe802=]
NM_001345922.3:c.2332_*1delinsTTTTTTAAGTAAA	NP_001332851.1:n.[c.2332_*1delinsTTTTTTAAGTAAA;Phe778=]
NM_001387110.3:c.2593_*1delinsTTTTTTAAGTAAA	NP_001374039.1:n.[c.2593_*1delinsTTTTTTAAGTAAA;Phe865=]
NM_001387111.3:c.2644_*1delinsTTTTTTAAGTAAA	NP_001374040.1:n.[c.2644_*1delinsTTTTTTAAGTAAA;Phe882=]
NM_001387113.3:c.2602_*1delinsTTTTTTAAGTAAA	NP_001374042.1:n.[c.2602_*1delinsTTTTTTAAGTAAA;Phe868=]
NM_001395893.1:c.2332_*1delinsTTTTTTAAGTAAA	NP_001382822.1:n.[c.2332_*1delinsTTTTTTAAGTAAA;Phe778=]
NM_001395894.1:c.2644_*1delinsTTTTTTAAGTAAA	NP_001382823.1:n.[c.2644_*1delinsTTTTTTAAGTAAA;Phe882=]
NM_001395897.1:c.2641_*1delinsTTTTTTAAGTAAA	NP_001382826.1:n.[c.2641_*1delinsTTTTTTAAGTAAA;Phe881=]
NM_001395899.1:c.2449_*1delinsTTTTTTAAGTAAA	NP_001382828.1:n.[c.2449_*1delinsTTTTTTAAGTAAA;Phe817=]
NM_001395900.1:c.2404_*1delinsTTTTTTAAGTAAA	NP_001382829.1:n.[c.2404_*1delinsTTTTTTAAGTAAA;Phe802=]
NM_001395901.1:c.2362_*1delinsTTTTTTAAGTAAA	NP_001382830.1:n.[c.2362_*1delinsTTTTTTAAGTAAA;Phe788=]
NM_001395902.1:c.2332_*1delinsTTTTTTAAGTAAA	NP_001382831.1:n.[c.2332_*1delinsTTTTTTAAGTAAA;Phe778=]
NM_016218.6:c.2602_*1delinsTTTTTTAAGTAAA MANE Select	NP_057302.1:n.[c.2602_*1delinsTTTTTTAAGTAAA;Phe868=]
NR_144315.3:n.2467_2479delinsTTTTTTAAGTAAA
NR_170559.3:n.2456_2468delinsTTTTTTAAGTAAA
NR_170560.3:n.2688_2700delinsTTTTTTAAGTAAA