Canonical Allele Identifier: CA3310100

Gene: POLK

Linked Data

• dbSNP Id: rs751346270
• ExAC: 5:74893613 AG / A
• gnomAD v2: 5-74893613-AG-A
• gnomAD v4: 5-75597788-AG-A
• MyVariant Identifiers: chr5:g.74893614del (hg19) ; chr5:g.75597789del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597790del , CM000667.2:g.75597790del	GRCh38
NC_000005.9:g.74893615del , CM000667.1:g.74893615del	GRCh37
NC_000005.8:g.74929371del	NCBI36
NG_051590.1:g.91041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2528+1del
ENST00000241436.8:c.2528+1del
ENST00000502567.1:n.373+1del
ENST00000503479.6:c.*1051+1del
ENST00000504026.5:c.1399+1del
ENST00000505069.1:n.109del
ENST00000505975.5:c.2642+1del
ENST00000506928.5:n.2651+1del
ENST00000508526.5:c.1934+1del
ENST00000509126.2:c.2356+1del
ENST00000510815.6:c.*1051+1del
ENST00000511527.5:c.1513+1del
ENST00000514141.5:c.*1147+1del
NM_016218.2:c.2528+1del
XM_005248534.3:c.2570+1del
XM_006714652.2:c.1283+1del
XM_011543463.1:c.2570+1del
XM_011543464.1:c.2570+1del
XM_011543465.1:c.2570+1del
XM_011543466.1:c.2570+1del
XM_011543467.1:c.2300+1del
XR_241784.1:n.2536+1del
XR_948273.1:n.2720+1del
NM_001345921.1:c.2330+1del
NM_001345922.1:c.2258+1del
NM_016218.3:c.2528+1del
NR_144315.1:n.2534+1del
XM_005248534.5:c.2570+1del
XM_006714652.4:c.1283+1del
XM_011543463.3:c.2570+1del
XM_011543464.3:c.2570+1del
XM_011543467.3:c.2300+1del
XM_017009559.2:c.2528+1del
XM_017009560.2:c.2528+1del
XM_017009561.2:c.2372+1del
XM_017009563.2:c.2258+1del
XR_001742105.2:n.3018+1del
XR_001742107.2:n.3102+1del
XR_001742108.2:n.2636+1del
XR_241784.3:n.3060+1del
XR_948273.3:n.2720+1del
NM_001345921.2:c.2330+1del
NM_001345922.2:c.2258+1del
NM_001387110.2:c.2519+1del
NM_001387111.2:c.2570+1del
NM_001387113.2:c.2528+1del
NM_016218.5:c.2528+1del
NR_144315.2:n.2393+1del
NR_170559.2:n.2382+1del
NR_170560.2:n.2614+1del
NM_001345921.3:c.2330+1del
NM_001345922.3:c.2258+1del
NM_001387110.3:c.2519+1del
NM_001387111.3:c.2570+1del
NM_001387113.3:c.2528+1del
NM_001395893.1:c.2258+1del
NM_001395894.1:c.2570+1del
NM_001395897.1:c.2567+1del
NM_001395899.1:c.2375+1del
NM_001395900.1:c.2330+1del
NM_001395901.1:c.2288+1del
NM_001395902.1:c.2258+1del
NM_016218.6:c.2528+1del
NR_144315.3:n.2393+1del
NR_170559.3:n.2382+1del
NR_170560.3:n.2614+1del