Canonical Allele Identifier: CA2674280417

Gene: POLK

Linked Data

• gnomAD v4: 5-75597855-TTAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597859_75597862del , CM000667.2:g.75597859_75597862del	GRCh38
NC_000005.9:g.74893684_74893687del , CM000667.1:g.74893684_74893687del	GRCh37
NC_000005.8:g.74929440_74929443del	NCBI36
NG_051590.1:g.91110_91113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2528+70_2529-72del MANE Select	ENSP00000241436.4:n.2528+70_2529-72del
ENST00000241436.8:c.2528+70_2529-72del	ENSP00000241436.4:n.2528+70_2529-72del
ENST00000502567.1:n.373+70_374-72del
ENST00000503479.6:c.*1051+70_*1052-72del	ENSP00000421997.2:n.*1051+70_*1052-72del
ENST00000504026.5:c.1399+70_1400-72del	ENSP00000425075.1:n.1399+70_1400-72del
ENST00000505069.1:n.178_181del
ENST00000505975.5:c.2642+70_2643-72del	ENSP00000424859.1:n.2642+70_2643-72del
ENST00000506928.5:n.2651+70_2652-72del
ENST00000508526.5:c.1934+70_1935-72del	ENSP00000426853.1:n.1934+70_1935-72del
ENST00000509126.2:c.2356+70_2357-72del	ENSP00000423532.1:n.2356+70_2357-72del
ENST00000510815.6:c.*1051+70_*1052-72del	ENSP00000422094.2:n.*1051+70_*1052-72del
ENST00000511527.5:c.1513+70_1514-72del	ENSP00000420997.1:n.1513+70_1514-72del
ENST00000514141.5:c.*1147+70_*1148-72del	ENSP00000423526.1:n.*1147+70_*1148-72del
NM_016218.2:c.2528+70_2529-72del	NP_057302.1:n.2528+70_2529-72del
XM_005248534.3:c.2570+70_2571-72del	XP_005248591.1:n.2570+70_2571-72del
XM_006714652.2:c.1283+70_1284-72del	XP_006714715.1:n.1283+70_1284-72del
XM_011543463.1:c.2570+70_2571-72del	XP_011541765.1:n.2570+70_2571-72del
XM_011543464.1:c.2570+70_2571-72del	XP_011541766.1:n.2570+70_2571-72del
XM_011543465.1:c.2570+70_2571-72del	XP_011541767.1:n.2570+70_2571-72del
XM_011543466.1:c.2570+70_2571-72del	XP_011541768.1:n.2570+70_2571-72del
XM_011543467.1:c.2300+70_2301-72del	XP_011541769.1:n.2300+70_2301-72del
XR_241784.1:n.2536+70_2537-72del
XR_948273.1:n.2720+70_2721-72del
NM_001345921.1:c.2330+70_2331-72del	NP_001332850.1:n.2330+70_2331-72del
NM_001345922.1:c.2258+70_2259-72del	NP_001332851.1:n.2258+70_2259-72del
NM_016218.3:c.2528+70_2529-72del	NP_057302.1:n.2528+70_2529-72del
NR_144315.1:n.2534+70_2535-72del
XM_005248534.5:c.2570+70_2571-72del	XP_005248591.1:n.2570+70_2571-72del
XM_006714652.4:c.1283+70_1284-72del	XP_006714715.1:n.1283+70_1284-72del
XM_011543463.3:c.2570+70_2571-72del	XP_011541765.1:n.2570+70_2571-72del
XM_011543464.3:c.2570+70_2571-72del	XP_011541766.1:n.2570+70_2571-72del
XM_011543467.3:c.2300+70_2301-72del	XP_011541769.1:n.2300+70_2301-72del
XM_017009559.2:c.2528+70_2529-72del	XP_016865048.1:n.2528+70_2529-72del
XM_017009560.2:c.2528+70_2529-72del	XP_016865049.1:n.2528+70_2529-72del
XM_017009561.2:c.2372+70_2373-72del	XP_016865050.1:n.2372+70_2373-72del
XM_017009563.2:c.2258+70_2259-72del	XP_016865052.1:n.2258+70_2259-72del
XR_001742105.2:n.3018+70_3019-72del
XR_001742107.2:n.3102+70_3103-72del
XR_001742108.2:n.2636+70_2637-72del
XR_241784.3:n.3060+70_3061-72del
XR_948273.3:n.2720+70_2721-72del
NM_001345921.2:c.2330+70_2331-72del	NP_001332850.1:n.2330+70_2331-72del
NM_001345922.2:c.2258+70_2259-72del	NP_001332851.1:n.2258+70_2259-72del
NM_001387110.2:c.2519+70_2520-72del	NP_001374039.1:n.2519+70_2520-72del
NM_001387111.2:c.2570+70_2571-72del	NP_001374040.1:n.2570+70_2571-72del
NM_001387113.2:c.2528+70_2529-72del	NP_001374042.1:n.2528+70_2529-72del
NM_016218.5:c.2528+70_2529-72del	NP_057302.1:n.2528+70_2529-72del
NR_144315.2:n.2393+70_2394-72del
NR_170559.2:n.2382+70_2383-72del
NR_170560.2:n.2614+70_2615-72del
NM_001345921.3:c.2330+70_2331-72del	NP_001332850.1:n.2330+70_2331-72del
NM_001345922.3:c.2258+70_2259-72del	NP_001332851.1:n.2258+70_2259-72del
NM_001387110.3:c.2519+70_2520-72del	NP_001374039.1:n.2519+70_2520-72del
NM_001387111.3:c.2570+70_2571-72del	NP_001374040.1:n.2570+70_2571-72del
NM_001387113.3:c.2528+70_2529-72del	NP_001374042.1:n.2528+70_2529-72del
NM_001395893.1:c.2258+70_2259-72del	NP_001382822.1:n.2258+70_2259-72del
NM_001395894.1:c.2570+70_2571-72del	NP_001382823.1:n.2570+70_2571-72del
NM_001395897.1:c.2567+70_2568-72del	NP_001382826.1:n.2567+70_2568-72del
NM_001395899.1:c.2375+70_2376-72del	NP_001382828.1:n.2375+70_2376-72del
NM_001395900.1:c.2330+70_2331-72del	NP_001382829.1:n.2330+70_2331-72del
NM_001395901.1:c.2288+70_2289-72del	NP_001382830.1:n.2288+70_2289-72del
NM_001395902.1:c.2258+70_2259-72del	NP_001382831.1:n.2258+70_2259-72del
NM_016218.6:c.2528+70_2529-72del MANE Select	NP_057302.1:n.2528+70_2529-72del
NR_144315.3:n.2393+70_2394-72del
NR_170559.3:n.2382+70_2383-72del
NR_170560.3:n.2614+70_2615-72del