Canonical Allele Identifier: CA2674276118

Gene: POLK

Linked Data

• gnomAD v4: 5-75547024-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75547026del , CM000667.2:g.75547026del	GRCh38
NC_000005.9:g.74842851del , CM000667.1:g.74842851del	GRCh37
NC_000005.8:g.74878607del	NCBI36
NG_051590.1:g.40277del

Transcript Alleles

HGVS	Amino-acid change
ENST00000241436.9:c.4del MANE Select	ENSP00000241436.4:p.Asp2IlefsTer30
ENST00000241436.8:c.4del	ENSP00000241436.4:p.Asp2IlefsTer30
ENST00000503479.6:c.-63-5446del	ENSP00000421997.2:n.-63-5446del
ENST00000504026.5:c.4del	ENSP00000425075.1:p.Asp2IlefsTer30
ENST00000505774.5:c.4del	ENSP00000421879.1:p.Asp2IlefsTer30
ENST00000505975.5:c.4del	ENSP00000424859.1:p.Asp2IlefsTer30
ENST00000506928.5:n.41del
ENST00000508526.5:c.4del	ENSP00000426853.1:p.Asp2IlefsTer30
ENST00000508867.5:n.17del
ENST00000509126.2:c.4del	ENSP00000423532.1:p.Asp2IlefsTer30
ENST00000510815.6:c.-249-5446del	ENSP00000422094.2:n.-249-5446del
ENST00000511527.5:c.4del	ENSP00000420997.1:p.Asp2IlefsTer30
ENST00000514141.5:c.4del	ENSP00000423526.1:p.Asp2IlefsTer30
ENST00000514296.5:c.4del	ENSP00000425208.1:p.Asp2IlefsTer30
ENST00000515295.5:c.4del	ENSP00000424174.1:p.Asp2IlefsTer30
NM_016218.2:c.4del	NP_057302.1:p.Asp2IlefsTer30
XM_005248534.3:c.4del	XP_005248591.1:p.Asp2IlefsTer30
XM_005248536.2:c.4del	XP_005248593.1:p.Asp2IlefsTer30
XM_011543463.1:c.4del	XP_011541765.1:p.Asp2IlefsTer30
XM_011543464.1:c.4del	XP_011541766.1:p.Asp2IlefsTer30
XM_011543465.1:c.4del	XP_011541767.1:p.Asp2IlefsTer30
XM_011543466.1:c.4del	XP_011541768.1:p.Asp2IlefsTer30
XM_011543467.1:c.-381del	XP_011541769.1:n.-381del
XM_011543468.1:c.4del	XP_011541770.1:p.Asp2IlefsTer30
XR_241783.2:n.100del
XR_241784.1:n.100del
XR_948273.1:n.170del
NM_001345921.1:c.-63-5446del	NP_001332850.1:n.-63-5446del
NM_001345922.1:c.-381del	NP_001332851.1:n.-381del
NM_016218.3:c.4del	NP_057302.1:p.Asp2IlefsTer30
NR_144315.1:n.182del
XM_005248534.5:c.4del	XP_005248591.1:p.Asp2IlefsTer30
XM_011543463.3:c.4del	XP_011541765.1:p.Asp2IlefsTer30
XM_011543464.3:c.4del	XP_011541766.1:p.Asp2IlefsTer30
XM_011543467.3:c.-381del	XP_011541769.1:n.-381del
XM_017009559.2:c.4del	XP_016865048.1:p.Asp2IlefsTer30
XM_017009560.2:c.4del	XP_016865049.1:p.Asp2IlefsTer30
XM_017009561.2:c.-63-5446del	XP_016865050.1:n.-63-5446del
XM_017009563.2:c.-381del	XP_016865052.1:n.-381del
XR_001742105.2:n.624del
XR_001742107.2:n.624del
XR_001742108.2:n.170del
XR_002956163.1:n.624del
XR_241784.3:n.624del
XR_948273.3:n.170del
NM_001345922.2:c.-381del	NP_001332851.1:n.-381del
NM_001387110.2:c.4del	NP_001374039.1:p.Asp2IlefsTer30
NM_001387111.2:c.4del	NP_001374040.1:p.Asp2IlefsTer30
NM_001387113.2:c.4del	NP_001374042.1:p.Asp2IlefsTer30
NM_016218.5:c.4del	NP_057302.1:p.Asp2IlefsTer30
NR_144315.2:n.41del
NR_170559.2:n.162-5446del
NR_170560.2:n.178del
NM_001345922.3:c.-381del	NP_001332851.1:n.-381del
NM_001387110.3:c.4del	NP_001374039.1:p.Asp2IlefsTer30
NM_001387111.3:c.4del	NP_001374040.1:p.Asp2IlefsTer30
NM_001387113.3:c.4del	NP_001374042.1:p.Asp2IlefsTer30
NM_001395893.1:c.-381del	NP_001382822.1:n.-381del
NM_001395894.1:c.4del	NP_001382823.1:p.Asp2IlefsTer30
NM_001395897.1:c.4del	NP_001382826.1:p.Asp2IlefsTer30
NM_001395899.1:c.4del	NP_001382828.1:p.Asp2IlefsTer30
NM_001395900.1:c.-63-5446del	NP_001382829.1:n.-63-5446del
NM_001395901.1:c.4del	NP_001382830.1:p.Asp2IlefsTer30
NM_016218.6:c.4del MANE Select	NP_057302.1:p.Asp2IlefsTer30
NR_144315.3:n.41del
NR_170559.3:n.162-5446del
NR_170560.3:n.178del