Canonical Allele Identifier: CA2674280397

Gene: POLK

Linked Data

• gnomAD v4: 5-75597838-AATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597842_75597844del , CM000667.2:g.75597842_75597844del	GRCh38
NC_000005.9:g.74893667_74893669del , CM000667.1:g.74893667_74893669del	GRCh37
NC_000005.8:g.74929423_74929425del	NCBI36
NG_051590.1:g.91093_91095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2528+53_2528+55del MANE Select	ENSP00000241436.4:n.2528+53_2528+55del
ENST00000241436.8:c.2528+53_2528+55del	ENSP00000241436.4:n.2528+53_2528+55del
ENST00000502567.1:n.373+53_373+55del
ENST00000503479.6:c.*1051+53_*1051+55del	ENSP00000421997.2:n.*1051+53_*1051+55del
ENST00000504026.5:c.1399+53_1399+55del	ENSP00000425075.1:n.1399+53_1399+55del
ENST00000505069.1:n.161_163del
ENST00000505975.5:c.2642+53_2642+55del	ENSP00000424859.1:n.2642+53_2642+55del
ENST00000506928.5:n.2651+53_2651+55del
ENST00000508526.5:c.1934+53_1934+55del	ENSP00000426853.1:n.1934+53_1934+55del
ENST00000509126.2:c.2356+53_2356+55del	ENSP00000423532.1:n.2356+53_2356+55del
ENST00000510815.6:c.*1051+53_*1051+55del	ENSP00000422094.2:n.*1051+53_*1051+55del
ENST00000511527.5:c.1513+53_1513+55del	ENSP00000420997.1:n.1513+53_1513+55del
ENST00000514141.5:c.*1147+53_*1147+55del	ENSP00000423526.1:n.*1147+53_*1147+55del
NM_016218.2:c.2528+53_2528+55del	NP_057302.1:n.2528+53_2528+55del
XM_005248534.3:c.2570+53_2570+55del	XP_005248591.1:n.2570+53_2570+55del
XM_006714652.2:c.1283+53_1283+55del	XP_006714715.1:n.1283+53_1283+55del
XM_011543463.1:c.2570+53_2570+55del	XP_011541765.1:n.2570+53_2570+55del
XM_011543464.1:c.2570+53_2570+55del	XP_011541766.1:n.2570+53_2570+55del
XM_011543465.1:c.2570+53_2570+55del	XP_011541767.1:n.2570+53_2570+55del
XM_011543466.1:c.2570+53_2570+55del	XP_011541768.1:n.2570+53_2570+55del
XM_011543467.1:c.2300+53_2300+55del	XP_011541769.1:n.2300+53_2300+55del
XR_241784.1:n.2536+53_2536+55del
XR_948273.1:n.2720+53_2720+55del
NM_001345921.1:c.2330+53_2330+55del	NP_001332850.1:n.2330+53_2330+55del
NM_001345922.1:c.2258+53_2258+55del	NP_001332851.1:n.2258+53_2258+55del
NM_016218.3:c.2528+53_2528+55del	NP_057302.1:n.2528+53_2528+55del
NR_144315.1:n.2534+53_2534+55del
XM_005248534.5:c.2570+53_2570+55del	XP_005248591.1:n.2570+53_2570+55del
XM_006714652.4:c.1283+53_1283+55del	XP_006714715.1:n.1283+53_1283+55del
XM_011543463.3:c.2570+53_2570+55del	XP_011541765.1:n.2570+53_2570+55del
XM_011543464.3:c.2570+53_2570+55del	XP_011541766.1:n.2570+53_2570+55del
XM_011543467.3:c.2300+53_2300+55del	XP_011541769.1:n.2300+53_2300+55del
XM_017009559.2:c.2528+53_2528+55del	XP_016865048.1:n.2528+53_2528+55del
XM_017009560.2:c.2528+53_2528+55del	XP_016865049.1:n.2528+53_2528+55del
XM_017009561.2:c.2372+53_2372+55del	XP_016865050.1:n.2372+53_2372+55del
XM_017009563.2:c.2258+53_2258+55del	XP_016865052.1:n.2258+53_2258+55del
XR_001742105.2:n.3018+53_3018+55del
XR_001742107.2:n.3102+53_3102+55del
XR_001742108.2:n.2636+53_2636+55del
XR_241784.3:n.3060+53_3060+55del
XR_948273.3:n.2720+53_2720+55del
NM_001345921.2:c.2330+53_2330+55del	NP_001332850.1:n.2330+53_2330+55del
NM_001345922.2:c.2258+53_2258+55del	NP_001332851.1:n.2258+53_2258+55del
NM_001387110.2:c.2519+53_2519+55del	NP_001374039.1:n.2519+53_2519+55del
NM_001387111.2:c.2570+53_2570+55del	NP_001374040.1:n.2570+53_2570+55del
NM_001387113.2:c.2528+53_2528+55del	NP_001374042.1:n.2528+53_2528+55del
NM_016218.5:c.2528+53_2528+55del	NP_057302.1:n.2528+53_2528+55del
NR_144315.2:n.2393+53_2393+55del
NR_170559.2:n.2382+53_2382+55del
NR_170560.2:n.2614+53_2614+55del
NM_001345921.3:c.2330+53_2330+55del	NP_001332850.1:n.2330+53_2330+55del
NM_001345922.3:c.2258+53_2258+55del	NP_001332851.1:n.2258+53_2258+55del
NM_001387110.3:c.2519+53_2519+55del	NP_001374039.1:n.2519+53_2519+55del
NM_001387111.3:c.2570+53_2570+55del	NP_001374040.1:n.2570+53_2570+55del
NM_001387113.3:c.2528+53_2528+55del	NP_001374042.1:n.2528+53_2528+55del
NM_001395893.1:c.2258+53_2258+55del	NP_001382822.1:n.2258+53_2258+55del
NM_001395894.1:c.2570+53_2570+55del	NP_001382823.1:n.2570+53_2570+55del
NM_001395897.1:c.2567+53_2567+55del	NP_001382826.1:n.2567+53_2567+55del
NM_001395899.1:c.2375+53_2375+55del	NP_001382828.1:n.2375+53_2375+55del
NM_001395900.1:c.2330+53_2330+55del	NP_001382829.1:n.2330+53_2330+55del
NM_001395901.1:c.2288+53_2288+55del	NP_001382830.1:n.2288+53_2288+55del
NM_001395902.1:c.2258+53_2258+55del	NP_001382831.1:n.2258+53_2258+55del
NM_016218.6:c.2528+53_2528+55del MANE Select	NP_057302.1:n.2528+53_2528+55del
NR_144315.3:n.2393+53_2393+55del
NR_170559.3:n.2382+53_2382+55del
NR_170560.3:n.2614+53_2614+55del