Canonical Allele Identifier: CA2674280320

Gene: POLK

Linked Data

• gnomAD v4: 5-75597783-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597788del , CM000667.2:g.75597788del	GRCh38
NC_000005.9:g.74893613del , CM000667.1:g.74893613del	GRCh37
NC_000005.8:g.74929369del	NCBI36
NG_051590.1:g.91039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2527del MANE Select	ENSP00000241436.4:p.Arg843GlyfsTer4
ENST00000241436.8:c.2527del	ENSP00000241436.4:p.Arg843GlyfsTer4
ENST00000502567.1:n.372del
ENST00000503479.6:c.*1050del	ENSP00000421997.2:n.*1050del
ENST00000504026.5:c.1398del	ENSP00000425075.1:n.1398del
ENST00000505069.1:n.107del
ENST00000505975.5:c.2641del	ENSP00000424859.1:n.2641del
ENST00000506928.5:n.2650del
ENST00000508526.5:c.1933del	ENSP00000426853.1:p.Arg645GlyfsTer4
ENST00000509126.2:c.2355del	ENSP00000423532.1:n.2355del
ENST00000510815.6:c.*1050del	ENSP00000422094.2:n.*1050del
ENST00000511527.5:c.1512del	ENSP00000420997.1:n.1512del
ENST00000514141.5:c.*1146del	ENSP00000423526.1:n.*1146del
NM_016218.2:c.2527del	NP_057302.1:p.Arg843GlyfsTer4
XM_005248534.3:c.2569del	XP_005248591.1:p.Arg857GlyfsTer4
XM_006714652.2:c.1282del	XP_006714715.1:p.Arg428GlyfsTer4
XM_011543463.1:c.2569del	XP_011541765.1:p.Arg857GlyfsTer4
XM_011543464.1:c.2569del	XP_011541766.1:p.Arg857GlyfsTer4
XM_011543465.1:c.2569del	XP_011541767.1:p.Arg857GlyfsTer4
XM_011543466.1:c.2569del	XP_011541768.1:p.Arg857GlyfsTer4
XM_011543467.1:c.2299del	XP_011541769.1:p.Arg767GlyfsTer4
XR_241784.1:n.2535del
XR_948273.1:n.2719del
NM_001345921.1:c.2329del	NP_001332850.1:p.Arg777GlyfsTer4
NM_001345922.1:c.2257del	NP_001332851.1:p.Arg753GlyfsTer4
NM_016218.3:c.2527del	NP_057302.1:p.Arg843GlyfsTer4
NR_144315.1:n.2533del
XM_005248534.5:c.2569del	XP_005248591.1:p.Arg857GlyfsTer4
XM_006714652.4:c.1282del	XP_006714715.1:p.Arg428GlyfsTer4
XM_011543463.3:c.2569del	XP_011541765.1:p.Arg857GlyfsTer4
XM_011543464.3:c.2569del	XP_011541766.1:p.Arg857GlyfsTer4
XM_011543467.3:c.2299del	XP_011541769.1:p.Arg767GlyfsTer4
XM_017009559.2:c.2527del	XP_016865048.1:p.Arg843GlyfsTer4
XM_017009560.2:c.2527del	XP_016865049.1:p.Arg843GlyfsTer4
XM_017009561.2:c.2371del	XP_016865050.1:p.Arg791GlyfsTer4
XM_017009563.2:c.2257del	XP_016865052.1:p.Arg753GlyfsTer4
XR_001742105.2:n.3017del
XR_001742107.2:n.3101del
XR_001742108.2:n.2635del
XR_241784.3:n.3059del
XR_948273.3:n.2719del
NM_001345921.2:c.2329del	NP_001332850.1:p.Arg777GlyfsTer4
NM_001345922.2:c.2257del	NP_001332851.1:p.Arg753GlyfsTer4
NM_001387110.2:c.2518del	NP_001374039.1:p.Arg840GlyfsTer4
NM_001387111.2:c.2569del	NP_001374040.1:p.Arg857GlyfsTer4
NM_001387113.2:c.2527del	NP_001374042.1:p.Arg843GlyfsTer4
NM_016218.5:c.2527del	NP_057302.1:p.Arg843GlyfsTer4
NR_144315.2:n.2392del
NR_170559.2:n.2381del
NR_170560.2:n.2613del
NM_001345921.3:c.2329del	NP_001332850.1:p.Arg777GlyfsTer4
NM_001345922.3:c.2257del	NP_001332851.1:p.Arg753GlyfsTer4
NM_001387110.3:c.2518del	NP_001374039.1:p.Arg840GlyfsTer4
NM_001387111.3:c.2569del	NP_001374040.1:p.Arg857GlyfsTer4
NM_001387113.3:c.2527del	NP_001374042.1:p.Arg843GlyfsTer4
NM_001395893.1:c.2257del	NP_001382822.1:p.Arg753GlyfsTer4
NM_001395894.1:c.2569del	NP_001382823.1:p.Arg857GlyfsTer4
NM_001395897.1:c.2566del	NP_001382826.1:p.Arg856GlyfsTer4
NM_001395899.1:c.2374del	NP_001382828.1:p.Arg792GlyfsTer4
NM_001395900.1:c.2329del	NP_001382829.1:p.Arg777GlyfsTer4
NM_001395901.1:c.2287del	NP_001382830.1:p.Arg763GlyfsTer4
NM_001395902.1:c.2257del	NP_001382831.1:p.Arg753GlyfsTer4
NM_016218.6:c.2527del MANE Select	NP_057302.1:p.Arg843GlyfsTer4
NR_144315.3:n.2392del
NR_170559.3:n.2381del
NR_170560.3:n.2613del