Canonical Allele Identifier: CA2674280716

Gene: POLK

Linked Data

• gnomAD v4: 5-75597972-TAAAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597973_75597977del , CM000667.2:g.75597973_75597977del	GRCh38
NC_000005.9:g.74893798_74893802del , CM000667.1:g.74893798_74893802del	GRCh37
NC_000005.8:g.74929554_74929558del	NCBI36
NG_051590.1:g.91224_91228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2568_2572del MANE Select	ENSP00000241436.4:p.Pro858GlnfsTer7
ENST00000241436.8:c.2568_2572del	ENSP00000241436.4:p.Pro858GlnfsTer7
ENST00000502567.1:n.413_417del
ENST00000503479.6:c.*1091_*1095del	ENSP00000421997.2:n.*1091_*1095del
ENST00000504026.5:c.1439_1443del	ENSP00000425075.1:n.1439_1443del
ENST00000505069.1:n.292_296del
ENST00000505975.5:c.2682_2686del	ENSP00000424859.1:n.2682_2686del
ENST00000506928.5:n.2691_2695del
ENST00000508526.5:c.1974_1978del	ENSP00000426853.1:p.Pro660GlnfsTer7
ENST00000509126.2:c.2396_2400del	ENSP00000423532.1:n.2396_2400del
ENST00000510815.6:c.*1091_*1095del	ENSP00000422094.2:n.*1091_*1095del
ENST00000511527.5:c.1553_1557del	ENSP00000420997.1:n.1553_1557del
ENST00000514141.5:c.*1187_*1191del	ENSP00000423526.1:n.*1187_*1191del
NM_016218.2:c.2568_2572del	NP_057302.1:p.Pro858GlnfsTer7
XM_005248534.3:c.2610_2614del	XP_005248591.1:p.Pro872GlnfsTer7
XM_006714652.2:c.1323_1327del	XP_006714715.1:p.Pro443GlnfsTer7
XM_011543463.1:c.2610_2614del	XP_011541765.1:p.Pro872GlnfsTer7
XM_011543464.1:c.2610_2614del	XP_011541766.1:p.Pro872GlnfsTer7
XM_011543465.1:c.2610_2614del	XP_011541767.1:p.Pro872GlnfsTer7
XM_011543466.1:c.2610_2614del	XP_011541768.1:p.Pro872GlnfsTer7
XM_011543467.1:c.2340_2344del	XP_011541769.1:p.Pro782GlnfsTer7
XR_241784.1:n.2576_2580del
XR_948273.1:n.2760_2764del
NM_001345921.1:c.2370_2374del	NP_001332850.1:p.Pro792GlnfsTer7
NM_001345922.1:c.2298_2302del	NP_001332851.1:p.Pro768GlnfsTer7
NM_016218.3:c.2568_2572del	NP_057302.1:p.Pro858GlnfsTer7
NR_144315.1:n.2574_2578del
XM_005248534.5:c.2610_2614del	XP_005248591.1:p.Pro872GlnfsTer7
XM_006714652.4:c.1323_1327del	XP_006714715.1:p.Pro443GlnfsTer7
XM_011543463.3:c.2610_2614del	XP_011541765.1:p.Pro872GlnfsTer7
XM_011543464.3:c.2610_2614del	XP_011541766.1:p.Pro872GlnfsTer7
XM_011543467.3:c.2340_2344del	XP_011541769.1:p.Pro782GlnfsTer7
XM_017009559.2:c.2568_2572del	XP_016865048.1:p.Pro858GlnfsTer7
XM_017009560.2:c.2568_2572del	XP_016865049.1:p.Pro858GlnfsTer7
XM_017009561.2:c.2412_2416del	XP_016865050.1:p.Pro806GlnfsTer7
XM_017009563.2:c.2298_2302del	XP_016865052.1:p.Pro768GlnfsTer7
XR_001742105.2:n.3058_3062del
XR_001742107.2:n.3142_3146del
XR_001742108.2:n.2676_2680del
XR_241784.3:n.3100_3104del
XR_948273.3:n.2760_2764del
NM_001345921.2:c.2370_2374del	NP_001332850.1:p.Pro792GlnfsTer7
NM_001345922.2:c.2298_2302del	NP_001332851.1:p.Pro768GlnfsTer7
NM_001387110.2:c.2559_2563del	NP_001374039.1:p.Pro855GlnfsTer7
NM_001387111.2:c.2610_2614del	NP_001374040.1:p.Pro872GlnfsTer7
NM_001387113.2:c.2568_2572del	NP_001374042.1:p.Pro858GlnfsTer7
NM_016218.5:c.2568_2572del	NP_057302.1:p.Pro858GlnfsTer7
NR_144315.2:n.2433_2437del
NR_170559.2:n.2422_2426del
NR_170560.2:n.2654_2658del
NM_001345921.3:c.2370_2374del	NP_001332850.1:p.Pro792GlnfsTer7
NM_001345922.3:c.2298_2302del	NP_001332851.1:p.Pro768GlnfsTer7
NM_001387110.3:c.2559_2563del	NP_001374039.1:p.Pro855GlnfsTer7
NM_001387111.3:c.2610_2614del	NP_001374040.1:p.Pro872GlnfsTer7
NM_001387113.3:c.2568_2572del	NP_001374042.1:p.Pro858GlnfsTer7
NM_001395893.1:c.2298_2302del	NP_001382822.1:p.Pro768GlnfsTer7
NM_001395894.1:c.2610_2614del	NP_001382823.1:p.Pro872GlnfsTer7
NM_001395897.1:c.2607_2611del	NP_001382826.1:p.Pro871GlnfsTer7
NM_001395899.1:c.2415_2419del	NP_001382828.1:p.Pro807GlnfsTer7
NM_001395900.1:c.2370_2374del	NP_001382829.1:p.Pro792GlnfsTer7
NM_001395901.1:c.2328_2332del	NP_001382830.1:p.Pro778GlnfsTer7
NM_001395902.1:c.2298_2302del	NP_001382831.1:p.Pro768GlnfsTer7
NM_016218.6:c.2568_2572del MANE Select	NP_057302.1:p.Pro858GlnfsTer7
NR_144315.3:n.2433_2437del
NR_170559.3:n.2422_2426del
NR_170560.3:n.2654_2658del