Canonical Allele Identifier: CA2674280761

Gene: POLK

Linked Data

• gnomAD v4: 5-75597988-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597991del , CM000667.2:g.75597991del	GRCh38
NC_000005.9:g.74893816del , CM000667.1:g.74893816del	GRCh37
NC_000005.8:g.74929572del	NCBI36
NG_051590.1:g.91242del

Transcript Alleles

HGVS	Amino-acid change
ENST00000241436.9:c.2586del MANE Select	ENSP00000241436.4:p.Lys862AsnfsTer12
ENST00000241436.8:c.2586del	ENSP00000241436.4:p.Lys862AsnfsTer12
ENST00000503479.6:c.*1109del	ENSP00000421997.2:n.*1109del
ENST00000504026.5:c.1457del	ENSP00000425075.1:n.1457del
ENST00000505069.1:n.310del
ENST00000505975.5:c.2700del	ENSP00000424859.1:n.2700del
ENST00000506928.5:n.2709del
ENST00000508526.5:c.1992del	ENSP00000426853.1:p.Lys664AsnfsTer?
ENST00000509126.2:c.2414del	ENSP00000423532.1:n.2414del
ENST00000510815.6:c.*1109del	ENSP00000422094.2:n.*1109del
ENST00000511527.5:c.1571del	ENSP00000420997.1:n.1571del
ENST00000514141.5:c.*1205del	ENSP00000423526.1:n.*1205del
NM_016218.2:c.2586del	NP_057302.1:p.Lys862AsnfsTer12
XM_005248534.3:c.2628del	XP_005248591.1:p.Lys876AsnfsTer12
XM_006714652.2:c.1341del	XP_006714715.1:p.Lys447AsnfsTer12
XM_011543463.1:c.2628del	XP_011541765.1:p.Lys876AsnfsTer12
XM_011543464.1:c.2628del	XP_011541766.1:p.Lys876AsnfsTer12
XM_011543465.1:c.2628del	XP_011541767.1:p.Lys876AsnfsTer12
XM_011543466.1:c.2628del	XP_011541768.1:p.Lys876AsnfsTer12
XM_011543467.1:c.2358del	XP_011541769.1:p.Lys786AsnfsTer12
XR_241784.1:n.2594del
XR_948273.1:n.2778del
NM_001345921.1:c.2388del	NP_001332850.1:p.Lys796AsnfsTer12
NM_001345922.1:c.2316del	NP_001332851.1:p.Lys772AsnfsTer12
NM_016218.3:c.2586del	NP_057302.1:p.Lys862AsnfsTer12
NR_144315.1:n.2592del
XM_005248534.5:c.2628del	XP_005248591.1:p.Lys876AsnfsTer12
XM_006714652.4:c.1341del	XP_006714715.1:p.Lys447AsnfsTer12
XM_011543463.3:c.2628del	XP_011541765.1:p.Lys876AsnfsTer12
XM_011543464.3:c.2628del	XP_011541766.1:p.Lys876AsnfsTer12
XM_011543467.3:c.2358del	XP_011541769.1:p.Lys786AsnfsTer12
XM_017009559.2:c.2586del	XP_016865048.1:p.Lys862AsnfsTer12
XM_017009560.2:c.2586del	XP_016865049.1:p.Lys862AsnfsTer12
XM_017009561.2:c.2430del	XP_016865050.1:p.Lys810AsnfsTer12
XM_017009563.2:c.2316del	XP_016865052.1:p.Lys772AsnfsTer12
XR_001742105.2:n.3076del
XR_001742107.2:n.3160del
XR_001742108.2:n.2694del
XR_241784.3:n.3118del
XR_948273.3:n.2778del
NM_001345921.2:c.2388del	NP_001332850.1:p.Lys796AsnfsTer12
NM_001345922.2:c.2316del	NP_001332851.1:p.Lys772AsnfsTer12
NM_001387110.2:c.2577del	NP_001374039.1:p.Lys859AsnfsTer12
NM_001387111.2:c.2628del	NP_001374040.1:p.Lys876AsnfsTer12
NM_001387113.2:c.2586del	NP_001374042.1:p.Lys862AsnfsTer12
NM_016218.5:c.2586del	NP_057302.1:p.Lys862AsnfsTer12
NR_144315.2:n.2451del
NR_170559.2:n.2440del
NR_170560.2:n.2672del
NM_001345921.3:c.2388del	NP_001332850.1:p.Lys796AsnfsTer12
NM_001345922.3:c.2316del	NP_001332851.1:p.Lys772AsnfsTer12
NM_001387110.3:c.2577del	NP_001374039.1:p.Lys859AsnfsTer12
NM_001387111.3:c.2628del	NP_001374040.1:p.Lys876AsnfsTer12
NM_001387113.3:c.2586del	NP_001374042.1:p.Lys862AsnfsTer12
NM_001395893.1:c.2316del	NP_001382822.1:p.Lys772AsnfsTer12
NM_001395894.1:c.2628del	NP_001382823.1:p.Lys876AsnfsTer12
NM_001395897.1:c.2625del	NP_001382826.1:p.Lys875AsnfsTer12
NM_001395899.1:c.2433del	NP_001382828.1:p.Lys811AsnfsTer12
NM_001395900.1:c.2388del	NP_001382829.1:p.Lys796AsnfsTer12
NM_001395901.1:c.2346del	NP_001382830.1:p.Lys782AsnfsTer12
NM_001395902.1:c.2316del	NP_001382831.1:p.Lys772AsnfsTer12
NM_016218.6:c.2586del MANE Select	NP_057302.1:p.Lys862AsnfsTer12
NR_144315.3:n.2451del
NR_170559.3:n.2440del
NR_170560.3:n.2672del