Canonical Allele Identifier: CA2674280699

Gene: POLK

Linked Data

• gnomAD v4: 5-75597963-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597966del , CM000667.2:g.75597966del	GRCh38
NC_000005.9:g.74893791del , CM000667.1:g.74893791del	GRCh37
NC_000005.8:g.74929547del	NCBI36
NG_051590.1:g.91217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2561del MANE Select	ENSP00000241436.4:p.Lys854ArgfsTer3
ENST00000241436.8:c.2561del	ENSP00000241436.4:p.Lys854ArgfsTer3
ENST00000502567.1:n.406del
ENST00000503479.6:c.*1084del	ENSP00000421997.2:n.*1084del
ENST00000504026.5:c.1432del	ENSP00000425075.1:n.1432del
ENST00000505069.1:n.285del
ENST00000505975.5:c.2675del	ENSP00000424859.1:n.2675del
ENST00000506928.5:n.2684del
ENST00000508526.5:c.1967del	ENSP00000426853.1:p.Lys656ArgfsTer3
ENST00000509126.2:c.2389del	ENSP00000423532.1:n.2389del
ENST00000510815.6:c.*1084del	ENSP00000422094.2:n.*1084del
ENST00000511527.5:c.1546del	ENSP00000420997.1:n.1546del
ENST00000514141.5:c.*1180del	ENSP00000423526.1:n.*1180del
NM_016218.2:c.2561del	NP_057302.1:p.Lys854ArgfsTer3
XM_005248534.3:c.2603del	XP_005248591.1:p.Lys868ArgfsTer3
XM_006714652.2:c.1316del	XP_006714715.1:p.Lys439ArgfsTer3
XM_011543463.1:c.2603del	XP_011541765.1:p.Lys868ArgfsTer3
XM_011543464.1:c.2603del	XP_011541766.1:p.Lys868ArgfsTer3
XM_011543465.1:c.2603del	XP_011541767.1:p.Lys868ArgfsTer3
XM_011543466.1:c.2603del	XP_011541768.1:p.Lys868ArgfsTer3
XM_011543467.1:c.2333del	XP_011541769.1:p.Lys778ArgfsTer3
XR_241784.1:n.2569del
XR_948273.1:n.2753del
NM_001345921.1:c.2363del	NP_001332850.1:p.Lys788ArgfsTer3
NM_001345922.1:c.2291del	NP_001332851.1:p.Lys764ArgfsTer3
NM_016218.3:c.2561del	NP_057302.1:p.Lys854ArgfsTer3
NR_144315.1:n.2567del
XM_005248534.5:c.2603del	XP_005248591.1:p.Lys868ArgfsTer3
XM_006714652.4:c.1316del	XP_006714715.1:p.Lys439ArgfsTer3
XM_011543463.3:c.2603del	XP_011541765.1:p.Lys868ArgfsTer3
XM_011543464.3:c.2603del	XP_011541766.1:p.Lys868ArgfsTer3
XM_011543467.3:c.2333del	XP_011541769.1:p.Lys778ArgfsTer3
XM_017009559.2:c.2561del	XP_016865048.1:p.Lys854ArgfsTer3
XM_017009560.2:c.2561del	XP_016865049.1:p.Lys854ArgfsTer3
XM_017009561.2:c.2405del	XP_016865050.1:p.Lys802ArgfsTer3
XM_017009563.2:c.2291del	XP_016865052.1:p.Lys764ArgfsTer3
XR_001742105.2:n.3051del
XR_001742107.2:n.3135del
XR_001742108.2:n.2669del
XR_241784.3:n.3093del
XR_948273.3:n.2753del
NM_001345921.2:c.2363del	NP_001332850.1:p.Lys788ArgfsTer3
NM_001345922.2:c.2291del	NP_001332851.1:p.Lys764ArgfsTer3
NM_001387110.2:c.2552del	NP_001374039.1:p.Lys851ArgfsTer3
NM_001387111.2:c.2603del	NP_001374040.1:p.Lys868ArgfsTer3
NM_001387113.2:c.2561del	NP_001374042.1:p.Lys854ArgfsTer3
NM_016218.5:c.2561del	NP_057302.1:p.Lys854ArgfsTer3
NR_144315.2:n.2426del
NR_170559.2:n.2415del
NR_170560.2:n.2647del
NM_001345921.3:c.2363del	NP_001332850.1:p.Lys788ArgfsTer3
NM_001345922.3:c.2291del	NP_001332851.1:p.Lys764ArgfsTer3
NM_001387110.3:c.2552del	NP_001374039.1:p.Lys851ArgfsTer3
NM_001387111.3:c.2603del	NP_001374040.1:p.Lys868ArgfsTer3
NM_001387113.3:c.2561del	NP_001374042.1:p.Lys854ArgfsTer3
NM_001395893.1:c.2291del	NP_001382822.1:p.Lys764ArgfsTer3
NM_001395894.1:c.2603del	NP_001382823.1:p.Lys868ArgfsTer3
NM_001395897.1:c.2600del	NP_001382826.1:p.Lys867ArgfsTer3
NM_001395899.1:c.2408del	NP_001382828.1:p.Lys803ArgfsTer3
NM_001395900.1:c.2363del	NP_001382829.1:p.Lys788ArgfsTer3
NM_001395901.1:c.2321del	NP_001382830.1:p.Lys774ArgfsTer3
NM_001395902.1:c.2291del	NP_001382831.1:p.Lys764ArgfsTer3
NM_016218.6:c.2561del MANE Select	NP_057302.1:p.Lys854ArgfsTer3
NR_144315.3:n.2426del
NR_170559.3:n.2415del
NR_170560.3:n.2647del