Canonical Allele Identifier: CA2674280713

Gene: POLK

Linked Data

• gnomAD v4: 5-75597967-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597971del , CM000667.2:g.75597971del	GRCh38
NC_000005.9:g.74893796del , CM000667.1:g.74893796del	GRCh37
NC_000005.8:g.74929552del	NCBI36
NG_051590.1:g.91222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2566del MANE Select	ENSP00000241436.4:p.Ile856Ter
ENST00000241436.8:c.2566del	ENSP00000241436.4:p.Ile856Ter
ENST00000502567.1:n.411del
ENST00000503479.6:c.*1089del	ENSP00000421997.2:n.*1089del
ENST00000504026.5:c.1437del	ENSP00000425075.1:n.1437del
ENST00000505069.1:n.290del
ENST00000505975.5:c.2680del	ENSP00000424859.1:n.2680del
ENST00000506928.5:n.2689del
ENST00000508526.5:c.1972del	ENSP00000426853.1:p.Ile658Ter
ENST00000509126.2:c.2394del	ENSP00000423532.1:n.2394del
ENST00000510815.6:c.*1089del	ENSP00000422094.2:n.*1089del
ENST00000511527.5:c.1551del	ENSP00000420997.1:n.1551del
ENST00000514141.5:c.*1185del	ENSP00000423526.1:n.*1185del
NM_016218.2:c.2566del	NP_057302.1:p.Ile856Ter
XM_005248534.3:c.2608del	XP_005248591.1:p.Ile870Ter
XM_006714652.2:c.1321del	XP_006714715.1:p.Ile441Ter
XM_011543463.1:c.2608del	XP_011541765.1:p.Ile870Ter
XM_011543464.1:c.2608del	XP_011541766.1:p.Ile870Ter
XM_011543465.1:c.2608del	XP_011541767.1:p.Ile870Ter
XM_011543466.1:c.2608del	XP_011541768.1:p.Ile870Ter
XM_011543467.1:c.2338del	XP_011541769.1:p.Ile780Ter
XR_241784.1:n.2574del
XR_948273.1:n.2758del
NM_001345921.1:c.2368del	NP_001332850.1:p.Ile790Ter
NM_001345922.1:c.2296del	NP_001332851.1:p.Ile766Ter
NM_016218.3:c.2566del	NP_057302.1:p.Ile856Ter
NR_144315.1:n.2572del
XM_005248534.5:c.2608del	XP_005248591.1:p.Ile870Ter
XM_006714652.4:c.1321del	XP_006714715.1:p.Ile441Ter
XM_011543463.3:c.2608del	XP_011541765.1:p.Ile870Ter
XM_011543464.3:c.2608del	XP_011541766.1:p.Ile870Ter
XM_011543467.3:c.2338del	XP_011541769.1:p.Ile780Ter
XM_017009559.2:c.2566del	XP_016865048.1:p.Ile856Ter
XM_017009560.2:c.2566del	XP_016865049.1:p.Ile856Ter
XM_017009561.2:c.2410del	XP_016865050.1:p.Ile804Ter
XM_017009563.2:c.2296del	XP_016865052.1:p.Ile766Ter
XR_001742105.2:n.3056del
XR_001742107.2:n.3140del
XR_001742108.2:n.2674del
XR_241784.3:n.3098del
XR_948273.3:n.2758del
NM_001345921.2:c.2368del	NP_001332850.1:p.Ile790Ter
NM_001345922.2:c.2296del	NP_001332851.1:p.Ile766Ter
NM_001387110.2:c.2557del	NP_001374039.1:p.Ile853Ter
NM_001387111.2:c.2608del	NP_001374040.1:p.Ile870Ter
NM_001387113.2:c.2566del	NP_001374042.1:p.Ile856Ter
NM_016218.5:c.2566del	NP_057302.1:p.Ile856Ter
NR_144315.2:n.2431del
NR_170559.2:n.2420del
NR_170560.2:n.2652del
NM_001345921.3:c.2368del	NP_001332850.1:p.Ile790Ter
NM_001345922.3:c.2296del	NP_001332851.1:p.Ile766Ter
NM_001387110.3:c.2557del	NP_001374039.1:p.Ile853Ter
NM_001387111.3:c.2608del	NP_001374040.1:p.Ile870Ter
NM_001387113.3:c.2566del	NP_001374042.1:p.Ile856Ter
NM_001395893.1:c.2296del	NP_001382822.1:p.Ile766Ter
NM_001395894.1:c.2608del	NP_001382823.1:p.Ile870Ter
NM_001395897.1:c.2605del	NP_001382826.1:p.Ile869Ter
NM_001395899.1:c.2413del	NP_001382828.1:p.Ile805Ter
NM_001395900.1:c.2368del	NP_001382829.1:p.Ile790Ter
NM_001395901.1:c.2326del	NP_001382830.1:p.Ile776Ter
NM_001395902.1:c.2296del	NP_001382831.1:p.Ile766Ter
NM_016218.6:c.2566del MANE Select	NP_057302.1:p.Ile856Ter
NR_144315.3:n.2431del
NR_170559.3:n.2420del
NR_170560.3:n.2652del