Canonical Allele Identifier: CA2674280805

Gene: POLK

Linked Data

• gnomAD v4: 5-75598005-T-TGTTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75598005_75598006insGTTCA , CM000667.2:g.75598005_75598006insGTTCA	GRCh38
NC_000005.9:g.74893830_74893831insGTTCA , CM000667.1:g.74893830_74893831insGTTCA	GRCh37
NC_000005.8:g.74929586_74929587insGTTCA	NCBI36
NG_051590.1:g.91256_91257insGTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2600_2601insGTTCA MANE Select	ENSP00000241436.4:p.Ile867MetfsTer9
ENST00000241436.8:c.2600_2601insGTTCA	ENSP00000241436.4:p.Ile867MetfsTer9
ENST00000503479.6:c.*1123_*1124insGTTCA	ENSP00000421997.2:n.*1123_*1124insGTTCA
ENST00000504026.5:c.1471_1472insGTTCA	ENSP00000425075.1:n.1471_1472insGTTCA
ENST00000505069.1:n.324_325insGTTCA
ENST00000505975.5:c.2714_2715insGTTCA	ENSP00000424859.1:n.2714_2715insGTTCA
ENST00000506928.5:n.2723_2724insGTTCA
ENST00000508526.5:c.2006_2007insGTTCA	ENSP00000426853.1:p.Ile669MetfsTer?
ENST00000509126.2:c.2428_2429insGTTCA	ENSP00000423532.1:n.2428_2429insGTTCA
ENST00000510815.6:c.*1123_*1124insGTTCA	ENSP00000422094.2:n.*1123_*1124insGTTCA
ENST00000511527.5:c.1585_1586insGTTCA	ENSP00000420997.1:n.1585_1586insGTTCA
ENST00000514141.5:c.*1219_*1220insGTTCA	ENSP00000423526.1:n.*1219_*1220insGTTCA
NM_016218.2:c.2600_2601insGTTCA	NP_057302.1:p.Ile867MetfsTer9
XM_005248534.3:c.2642_2643insGTTCA	XP_005248591.1:p.Ile881MetfsTer9
XM_006714652.2:c.1355_1356insGTTCA	XP_006714715.1:p.Ile452MetfsTer9
XM_011543463.1:c.2642_2643insGTTCA	XP_011541765.1:p.Ile881MetfsTer9
XM_011543464.1:c.2642_2643insGTTCA	XP_011541766.1:p.Ile881MetfsTer9
XM_011543465.1:c.2642_2643insGTTCA	XP_011541767.1:p.Ile881MetfsTer9
XM_011543466.1:c.2642_2643insGTTCA	XP_011541768.1:p.Ile881MetfsTer9
XM_011543467.1:c.2372_2373insGTTCA	XP_011541769.1:p.Ile791MetfsTer9
XR_241784.1:n.2608_2609insGTTCA
XR_948273.1:n.2792_2793insGTTCA
NM_001345921.1:c.2402_2403insGTTCA	NP_001332850.1:p.Ile801MetfsTer9
NM_001345922.1:c.2330_2331insGTTCA	NP_001332851.1:p.Ile777MetfsTer9
NM_016218.3:c.2600_2601insGTTCA	NP_057302.1:p.Ile867MetfsTer9
NR_144315.1:n.2606_2607insGTTCA
XM_005248534.5:c.2642_2643insGTTCA	XP_005248591.1:p.Ile881MetfsTer9
XM_006714652.4:c.1355_1356insGTTCA	XP_006714715.1:p.Ile452MetfsTer9
XM_011543463.3:c.2642_2643insGTTCA	XP_011541765.1:p.Ile881MetfsTer9
XM_011543464.3:c.2642_2643insGTTCA	XP_011541766.1:p.Ile881MetfsTer9
XM_011543467.3:c.2372_2373insGTTCA	XP_011541769.1:p.Ile791MetfsTer9
XM_017009559.2:c.2600_2601insGTTCA	XP_016865048.1:p.Ile867MetfsTer9
XM_017009560.2:c.2600_2601insGTTCA	XP_016865049.1:p.Ile867MetfsTer9
XM_017009561.2:c.2444_2445insGTTCA	XP_016865050.1:p.Ile815MetfsTer9
XM_017009563.2:c.2330_2331insGTTCA	XP_016865052.1:p.Ile777MetfsTer9
XR_001742105.2:n.3090_3091insGTTCA
XR_001742107.2:n.3174_3175insGTTCA
XR_001742108.2:n.2708_2709insGTTCA
XR_241784.3:n.3132_3133insGTTCA
XR_948273.3:n.2792_2793insGTTCA
NM_001345921.2:c.2402_2403insGTTCA	NP_001332850.1:p.Ile801MetfsTer9
NM_001345922.2:c.2330_2331insGTTCA	NP_001332851.1:p.Ile777MetfsTer9
NM_001387110.2:c.2591_2592insGTTCA	NP_001374039.1:p.Ile864MetfsTer9
NM_001387111.2:c.2642_2643insGTTCA	NP_001374040.1:p.Ile881MetfsTer9
NM_001387113.2:c.2600_2601insGTTCA	NP_001374042.1:p.Ile867MetfsTer9
NM_016218.5:c.2600_2601insGTTCA	NP_057302.1:p.Ile867MetfsTer9
NR_144315.2:n.2465_2466insGTTCA
NR_170559.2:n.2454_2455insGTTCA
NR_170560.2:n.2686_2687insGTTCA
NM_001345921.3:c.2402_2403insGTTCA	NP_001332850.1:p.Ile801MetfsTer9
NM_001345922.3:c.2330_2331insGTTCA	NP_001332851.1:p.Ile777MetfsTer9
NM_001387110.3:c.2591_2592insGTTCA	NP_001374039.1:p.Ile864MetfsTer9
NM_001387111.3:c.2642_2643insGTTCA	NP_001374040.1:p.Ile881MetfsTer9
NM_001387113.3:c.2600_2601insGTTCA	NP_001374042.1:p.Ile867MetfsTer9
NM_001395893.1:c.2330_2331insGTTCA	NP_001382822.1:p.Ile777MetfsTer9
NM_001395894.1:c.2642_2643insGTTCA	NP_001382823.1:p.Ile881MetfsTer9
NM_001395897.1:c.2639_2640insGTTCA	NP_001382826.1:p.Ile880MetfsTer9
NM_001395899.1:c.2447_2448insGTTCA	NP_001382828.1:p.Ile816MetfsTer9
NM_001395900.1:c.2402_2403insGTTCA	NP_001382829.1:p.Ile801MetfsTer9
NM_001395901.1:c.2360_2361insGTTCA	NP_001382830.1:p.Ile787MetfsTer9
NM_001395902.1:c.2330_2331insGTTCA	NP_001382831.1:p.Ile777MetfsTer9
NM_016218.6:c.2600_2601insGTTCA MANE Select	NP_057302.1:p.Ile867MetfsTer9
NR_144315.3:n.2465_2466insGTTCA
NR_170559.3:n.2454_2455insGTTCA
NR_170560.3:n.2686_2687insGTTCA