Canonical Allele Identifier: CA2674280317

Gene: POLK

Linked Data

• gnomAD v4: 5-75597768-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597770del , CM000667.2:g.75597770del	GRCh38
NC_000005.9:g.74893595del , CM000667.1:g.74893595del	GRCh37
NC_000005.8:g.74929351del	NCBI36
NG_051590.1:g.91021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2509del MANE Select	ENSP00000241436.4:p.Ala837LeufsTer2
ENST00000241436.8:c.2509del	ENSP00000241436.4:p.Ala837LeufsTer2
ENST00000502567.1:n.354del
ENST00000503479.6:c.*1032del	ENSP00000421997.2:n.*1032del
ENST00000504026.5:c.1380del	ENSP00000425075.1:p.Arg460SerfsTer30
ENST00000505069.1:n.89del
ENST00000505975.5:c.2623del	ENSP00000424859.1:n.2623del
ENST00000506928.5:n.2632del
ENST00000508526.5:c.1915del	ENSP00000426853.1:p.Ala639LeufsTer2
ENST00000509126.2:c.2337del	ENSP00000423532.1:n.2337del
ENST00000510815.6:c.*1032del	ENSP00000422094.2:n.*1032del
ENST00000511527.5:c.1494del	ENSP00000420997.1:n.1494del
ENST00000514141.5:c.*1128del	ENSP00000423526.1:n.*1128del
NM_016218.2:c.2509del	NP_057302.1:p.Ala837LeufsTer2
XM_005248534.3:c.2551del	XP_005248591.1:p.Ala851LeufsTer2
XM_006714652.2:c.1264del	XP_006714715.1:p.Ala422LeufsTer2
XM_011543463.1:c.2551del	XP_011541765.1:p.Ala851LeufsTer2
XM_011543464.1:c.2551del	XP_011541766.1:p.Ala851LeufsTer2
XM_011543465.1:c.2551del	XP_011541767.1:p.Ala851LeufsTer2
XM_011543466.1:c.2551del	XP_011541768.1:p.Ala851LeufsTer2
XM_011543467.1:c.2281del	XP_011541769.1:p.Ala761LeufsTer2
XR_241784.1:n.2517del
XR_948273.1:n.2701del
NM_001345921.1:c.2311del	NP_001332850.1:p.Ala771LeufsTer2
NM_001345922.1:c.2239del	NP_001332851.1:p.Ala747LeufsTer2
NM_016218.3:c.2509del	NP_057302.1:p.Ala837LeufsTer2
NR_144315.1:n.2515del
XM_005248534.5:c.2551del	XP_005248591.1:p.Ala851LeufsTer2
XM_006714652.4:c.1264del	XP_006714715.1:p.Ala422LeufsTer2
XM_011543463.3:c.2551del	XP_011541765.1:p.Ala851LeufsTer2
XM_011543464.3:c.2551del	XP_011541766.1:p.Ala851LeufsTer2
XM_011543467.3:c.2281del	XP_011541769.1:p.Ala761LeufsTer2
XM_017009559.2:c.2509del	XP_016865048.1:p.Ala837LeufsTer2
XM_017009560.2:c.2509del	XP_016865049.1:p.Ala837LeufsTer2
XM_017009561.2:c.2353del	XP_016865050.1:p.Ala785LeufsTer2
XM_017009563.2:c.2239del	XP_016865052.1:p.Ala747LeufsTer2
XR_001742105.2:n.2999del
XR_001742107.2:n.3083del
XR_001742108.2:n.2617del
XR_241784.3:n.3041del
XR_948273.3:n.2701del
NM_001345921.2:c.2311del	NP_001332850.1:p.Ala771LeufsTer2
NM_001345922.2:c.2239del	NP_001332851.1:p.Ala747LeufsTer2
NM_001387110.2:c.2500del	NP_001374039.1:p.Ala834LeufsTer2
NM_001387111.2:c.2551del	NP_001374040.1:p.Ala851LeufsTer2
NM_001387113.2:c.2509del	NP_001374042.1:p.Ala837LeufsTer2
NM_016218.5:c.2509del	NP_057302.1:p.Ala837LeufsTer2
NR_144315.2:n.2374del
NR_170559.2:n.2363del
NR_170560.2:n.2595del
NM_001345921.3:c.2311del	NP_001332850.1:p.Ala771LeufsTer2
NM_001345922.3:c.2239del	NP_001332851.1:p.Ala747LeufsTer2
NM_001387110.3:c.2500del	NP_001374039.1:p.Ala834LeufsTer2
NM_001387111.3:c.2551del	NP_001374040.1:p.Ala851LeufsTer2
NM_001387113.3:c.2509del	NP_001374042.1:p.Ala837LeufsTer2
NM_001395893.1:c.2239del	NP_001382822.1:p.Ala747LeufsTer2
NM_001395894.1:c.2551del	NP_001382823.1:p.Ala851LeufsTer2
NM_001395897.1:c.2548del	NP_001382826.1:p.Ala850LeufsTer2
NM_001395899.1:c.2356del	NP_001382828.1:p.Ala786LeufsTer2
NM_001395900.1:c.2311del	NP_001382829.1:p.Ala771LeufsTer2
NM_001395901.1:c.2269del	NP_001382830.1:p.Ala757LeufsTer2
NM_001395902.1:c.2239del	NP_001382831.1:p.Ala747LeufsTer2
NM_016218.6:c.2509del MANE Select	NP_057302.1:p.Ala837LeufsTer2
NR_144315.3:n.2374del
NR_170559.3:n.2363del
NR_170560.3:n.2595del