Canonical Allele Identifier: CA2674280818

Gene: POLK

Linked Data

• gnomAD v4: 5-75598010-T-TAC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75598010_75598011insAC , CM000667.2:g.75598010_75598011insAC	GRCh38
NC_000005.9:g.74893835_74893836insAC , CM000667.1:g.74893835_74893836insAC	GRCh37
NC_000005.8:g.74929591_74929592insAC	NCBI36
NG_051590.1:g.91261_91262insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2605_2606insAC MANE Select	ENSP00000241436.4:p.Phe869TyrfsTer6
ENST00000241436.8:c.2605_2606insAC	ENSP00000241436.4:p.Phe869TyrfsTer6
ENST00000503479.6:c.*1128_*1129insAC	ENSP00000421997.2:n.*1128_*1129insAC
ENST00000504026.5:c.1476_1477insAC	ENSP00000425075.1:n.1476_1477insAC
ENST00000505069.1:n.329_330insAC
ENST00000505975.5:c.2719_2720insAC	ENSP00000424859.1:n.2719_2720insAC
ENST00000506928.5:n.2728_2729insAC
ENST00000508526.5:c.2011_2012insAC	ENSP00000426853.1:p.Phe671TyrfsTer?
ENST00000509126.2:c.2433_2434insAC	ENSP00000423532.1:n.2433_2434insAC
ENST00000510815.6:c.*1128_*1129insAC	ENSP00000422094.2:n.*1128_*1129insAC
ENST00000511527.5:c.1590_1591insAC	ENSP00000420997.1:n.1590_1591insAC
ENST00000514141.5:c.*1224_*1225insAC	ENSP00000423526.1:n.*1224_*1225insAC
NM_016218.2:c.2605_2606insAC	NP_057302.1:p.Phe869TyrfsTer6
XM_005248534.3:c.2647_2648insAC	XP_005248591.1:p.Phe883TyrfsTer6
XM_006714652.2:c.1360_1361insAC	XP_006714715.1:p.Phe454TyrfsTer6
XM_011543463.1:c.2647_2648insAC	XP_011541765.1:p.Phe883TyrfsTer6
XM_011543464.1:c.2647_2648insAC	XP_011541766.1:p.Phe883TyrfsTer6
XM_011543465.1:c.2647_2648insAC	XP_011541767.1:p.Phe883TyrfsTer6
XM_011543466.1:c.2647_2648insAC	XP_011541768.1:p.Phe883TyrfsTer6
XM_011543467.1:c.2377_2378insAC	XP_011541769.1:p.Phe793TyrfsTer6
XR_241784.1:n.2613_2614insAC
XR_948273.1:n.2797_2798insAC
NM_001345921.1:c.2407_2408insAC	NP_001332850.1:p.Phe803TyrfsTer6
NM_001345922.1:c.2335_2336insAC	NP_001332851.1:p.Phe779TyrfsTer6
NM_016218.3:c.2605_2606insAC	NP_057302.1:p.Phe869TyrfsTer6
NR_144315.1:n.2611_2612insAC
XM_005248534.5:c.2647_2648insAC	XP_005248591.1:p.Phe883TyrfsTer6
XM_006714652.4:c.1360_1361insAC	XP_006714715.1:p.Phe454TyrfsTer6
XM_011543463.3:c.2647_2648insAC	XP_011541765.1:p.Phe883TyrfsTer6
XM_011543464.3:c.2647_2648insAC	XP_011541766.1:p.Phe883TyrfsTer6
XM_011543467.3:c.2377_2378insAC	XP_011541769.1:p.Phe793TyrfsTer6
XM_017009559.2:c.2605_2606insAC	XP_016865048.1:p.Phe869TyrfsTer6
XM_017009560.2:c.2605_2606insAC	XP_016865049.1:p.Phe869TyrfsTer6
XM_017009561.2:c.2449_2450insAC	XP_016865050.1:p.Phe817TyrfsTer6
XM_017009563.2:c.2335_2336insAC	XP_016865052.1:p.Phe779TyrfsTer6
XR_001742105.2:n.3095_3096insAC
XR_001742107.2:n.3179_3180insAC
XR_001742108.2:n.2713_2714insAC
XR_241784.3:n.3137_3138insAC
XR_948273.3:n.2797_2798insAC
NM_001345921.2:c.2407_2408insAC	NP_001332850.1:p.Phe803TyrfsTer6
NM_001345922.2:c.2335_2336insAC	NP_001332851.1:p.Phe779TyrfsTer6
NM_001387110.2:c.2596_2597insAC	NP_001374039.1:p.Phe866TyrfsTer6
NM_001387111.2:c.2647_2648insAC	NP_001374040.1:p.Phe883TyrfsTer6
NM_001387113.2:c.2605_2606insAC	NP_001374042.1:p.Phe869TyrfsTer6
NM_016218.5:c.2605_2606insAC	NP_057302.1:p.Phe869TyrfsTer6
NR_144315.2:n.2470_2471insAC
NR_170559.2:n.2459_2460insAC
NR_170560.2:n.2691_2692insAC
NM_001345921.3:c.2407_2408insAC	NP_001332850.1:p.Phe803TyrfsTer6
NM_001345922.3:c.2335_2336insAC	NP_001332851.1:p.Phe779TyrfsTer6
NM_001387110.3:c.2596_2597insAC	NP_001374039.1:p.Phe866TyrfsTer6
NM_001387111.3:c.2647_2648insAC	NP_001374040.1:p.Phe883TyrfsTer6
NM_001387113.3:c.2605_2606insAC	NP_001374042.1:p.Phe869TyrfsTer6
NM_001395893.1:c.2335_2336insAC	NP_001382822.1:p.Phe779TyrfsTer6
NM_001395894.1:c.2647_2648insAC	NP_001382823.1:p.Phe883TyrfsTer6
NM_001395897.1:c.2644_2645insAC	NP_001382826.1:p.Phe882TyrfsTer6
NM_001395899.1:c.2452_2453insAC	NP_001382828.1:p.Phe818TyrfsTer6
NM_001395900.1:c.2407_2408insAC	NP_001382829.1:p.Phe803TyrfsTer6
NM_001395901.1:c.2365_2366insAC	NP_001382830.1:p.Phe789TyrfsTer6
NM_001395902.1:c.2335_2336insAC	NP_001382831.1:p.Phe779TyrfsTer6
NM_016218.6:c.2605_2606insAC MANE Select	NP_057302.1:p.Phe869TyrfsTer6
NR_144315.3:n.2470_2471insAC
NR_170559.3:n.2459_2460insAC
NR_170560.3:n.2691_2692insAC