Canonical Allele Identifier: CA2674280361

Gene: POLK

Linked Data

• gnomAD v4: 5-75597818-TGGCTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597819_75597823del , CM000667.2:g.75597819_75597823del	GRCh38
NC_000005.9:g.74893644_74893648del , CM000667.1:g.74893644_74893648del	GRCh37
NC_000005.8:g.74929400_74929404del	NCBI36
NG_051590.1:g.91070_91074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2528+30_2528+34del MANE Select	ENSP00000241436.4:n.2528+30_2528+34del
ENST00000241436.8:c.2528+30_2528+34del	ENSP00000241436.4:n.2528+30_2528+34del
ENST00000502567.1:n.373+30_373+34del
ENST00000503479.6:c.*1051+30_*1051+34del	ENSP00000421997.2:n.*1051+30_*1051+34del
ENST00000504026.5:c.1399+30_1399+34del	ENSP00000425075.1:n.1399+30_1399+34del
ENST00000505069.1:n.138_142del
ENST00000505975.5:c.2642+30_2642+34del	ENSP00000424859.1:n.2642+30_2642+34del
ENST00000506928.5:n.2651+30_2651+34del
ENST00000508526.5:c.1934+30_1934+34del	ENSP00000426853.1:n.1934+30_1934+34del
ENST00000509126.2:c.2356+30_2356+34del	ENSP00000423532.1:n.2356+30_2356+34del
ENST00000510815.6:c.*1051+30_*1051+34del	ENSP00000422094.2:n.*1051+30_*1051+34del
ENST00000511527.5:c.1513+30_1513+34del	ENSP00000420997.1:n.1513+30_1513+34del
ENST00000514141.5:c.*1147+30_*1147+34del	ENSP00000423526.1:n.*1147+30_*1147+34del
NM_016218.2:c.2528+30_2528+34del	NP_057302.1:n.2528+30_2528+34del
XM_005248534.3:c.2570+30_2570+34del	XP_005248591.1:n.2570+30_2570+34del
XM_006714652.2:c.1283+30_1283+34del	XP_006714715.1:n.1283+30_1283+34del
XM_011543463.1:c.2570+30_2570+34del	XP_011541765.1:n.2570+30_2570+34del
XM_011543464.1:c.2570+30_2570+34del	XP_011541766.1:n.2570+30_2570+34del
XM_011543465.1:c.2570+30_2570+34del	XP_011541767.1:n.2570+30_2570+34del
XM_011543466.1:c.2570+30_2570+34del	XP_011541768.1:n.2570+30_2570+34del
XM_011543467.1:c.2300+30_2300+34del	XP_011541769.1:n.2300+30_2300+34del
XR_241784.1:n.2536+30_2536+34del
XR_948273.1:n.2720+30_2720+34del
NM_001345921.1:c.2330+30_2330+34del	NP_001332850.1:n.2330+30_2330+34del
NM_001345922.1:c.2258+30_2258+34del	NP_001332851.1:n.2258+30_2258+34del
NM_016218.3:c.2528+30_2528+34del	NP_057302.1:n.2528+30_2528+34del
NR_144315.1:n.2534+30_2534+34del
XM_005248534.5:c.2570+30_2570+34del	XP_005248591.1:n.2570+30_2570+34del
XM_006714652.4:c.1283+30_1283+34del	XP_006714715.1:n.1283+30_1283+34del
XM_011543463.3:c.2570+30_2570+34del	XP_011541765.1:n.2570+30_2570+34del
XM_011543464.3:c.2570+30_2570+34del	XP_011541766.1:n.2570+30_2570+34del
XM_011543467.3:c.2300+30_2300+34del	XP_011541769.1:n.2300+30_2300+34del
XM_017009559.2:c.2528+30_2528+34del	XP_016865048.1:n.2528+30_2528+34del
XM_017009560.2:c.2528+30_2528+34del	XP_016865049.1:n.2528+30_2528+34del
XM_017009561.2:c.2372+30_2372+34del	XP_016865050.1:n.2372+30_2372+34del
XM_017009563.2:c.2258+30_2258+34del	XP_016865052.1:n.2258+30_2258+34del
XR_001742105.2:n.3018+30_3018+34del
XR_001742107.2:n.3102+30_3102+34del
XR_001742108.2:n.2636+30_2636+34del
XR_241784.3:n.3060+30_3060+34del
XR_948273.3:n.2720+30_2720+34del
NM_001345921.2:c.2330+30_2330+34del	NP_001332850.1:n.2330+30_2330+34del
NM_001345922.2:c.2258+30_2258+34del	NP_001332851.1:n.2258+30_2258+34del
NM_001387110.2:c.2519+30_2519+34del	NP_001374039.1:n.2519+30_2519+34del
NM_001387111.2:c.2570+30_2570+34del	NP_001374040.1:n.2570+30_2570+34del
NM_001387113.2:c.2528+30_2528+34del	NP_001374042.1:n.2528+30_2528+34del
NM_016218.5:c.2528+30_2528+34del	NP_057302.1:n.2528+30_2528+34del
NR_144315.2:n.2393+30_2393+34del
NR_170559.2:n.2382+30_2382+34del
NR_170560.2:n.2614+30_2614+34del
NM_001345921.3:c.2330+30_2330+34del	NP_001332850.1:n.2330+30_2330+34del
NM_001345922.3:c.2258+30_2258+34del	NP_001332851.1:n.2258+30_2258+34del
NM_001387110.3:c.2519+30_2519+34del	NP_001374039.1:n.2519+30_2519+34del
NM_001387111.3:c.2570+30_2570+34del	NP_001374040.1:n.2570+30_2570+34del
NM_001387113.3:c.2528+30_2528+34del	NP_001374042.1:n.2528+30_2528+34del
NM_001395893.1:c.2258+30_2258+34del	NP_001382822.1:n.2258+30_2258+34del
NM_001395894.1:c.2570+30_2570+34del	NP_001382823.1:n.2570+30_2570+34del
NM_001395897.1:c.2567+30_2567+34del	NP_001382826.1:n.2567+30_2567+34del
NM_001395899.1:c.2375+30_2375+34del	NP_001382828.1:n.2375+30_2375+34del
NM_001395900.1:c.2330+30_2330+34del	NP_001382829.1:n.2330+30_2330+34del
NM_001395901.1:c.2288+30_2288+34del	NP_001382830.1:n.2288+30_2288+34del
NM_001395902.1:c.2258+30_2258+34del	NP_001382831.1:n.2258+30_2258+34del
NM_016218.6:c.2528+30_2528+34del MANE Select	NP_057302.1:n.2528+30_2528+34del
NR_144315.3:n.2393+30_2393+34del
NR_170559.3:n.2382+30_2382+34del
NR_170560.3:n.2614+30_2614+34del