Canonical Allele Identifier: CA3310093

Gene: POLK

Linked Data

• dbSNP Id: rs766268321
• ExAC: 5:74893554 ACTTT / A
• gnomAD v2: 5-74893554-ACTTT-A
• gnomAD v4: 5-75597729-ACTTT-A
• MyVariant Identifiers: chr5:g.74893555_74893558del (hg19) ; chr5:g.75597730_75597733del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597735_75597738del , CM000667.2:g.75597735_75597738del	GRCh38
NC_000005.9:g.74893560_74893563del , CM000667.1:g.74893560_74893563del	GRCh37
NC_000005.8:g.74929316_74929319del	NCBI36
NG_051590.1:g.90986_90989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2486-12_2486-9del MANE Select	ENSP00000241436.4:n.2486-12_2486-9del
ENST00000241436.8:c.2486-12_2486-9del	ENSP00000241436.4:n.2486-12_2486-9del
ENST00000502567.1:n.319_322del
ENST00000503479.6:c.*1009-12_*1009-9del	ENSP00000421997.2:n.*1009-12_*1009-9del
ENST00000504026.5:c.1357-12_1357-9del	ENSP00000425075.1:n.1357-12_1357-9del
ENST00000505069.1:n.66-12_66-9del
ENST00000505975.5:c.2600-12_2600-9del	ENSP00000424859.1:n.2600-12_2600-9del
ENST00000506928.5:n.2609-12_2609-9del
ENST00000508526.5:c.1892-12_1892-9del	ENSP00000426853.1:n.1892-12_1892-9del
ENST00000509126.2:c.2314-12_2314-9del	ENSP00000423532.1:n.2314-12_2314-9del
ENST00000510815.6:c.*1009-12_*1009-9del	ENSP00000422094.2:n.*1009-12_*1009-9del
ENST00000511527.5:c.1471-12_1471-9del	ENSP00000420997.1:n.1471-12_1471-9del
ENST00000514141.5:c.*1105-12_*1105-9del	ENSP00000423526.1:n.*1105-12_*1105-9del
NM_016218.2:c.2486-12_2486-9del	NP_057302.1:n.2486-12_2486-9del
XM_005248534.3:c.2528-12_2528-9del	XP_005248591.1:n.2528-12_2528-9del
XM_006714652.2:c.1241-12_1241-9del	XP_006714715.1:n.1241-12_1241-9del
XM_011543463.1:c.2528-12_2528-9del	XP_011541765.1:n.2528-12_2528-9del
XM_011543464.1:c.2528-12_2528-9del	XP_011541766.1:n.2528-12_2528-9del
XM_011543465.1:c.2528-12_2528-9del	XP_011541767.1:n.2528-12_2528-9del
XM_011543466.1:c.2528-12_2528-9del	XP_011541768.1:n.2528-12_2528-9del
XM_011543467.1:c.2258-12_2258-9del	XP_011541769.1:n.2258-12_2258-9del
XR_241784.1:n.2494-12_2494-9del
XR_948273.1:n.2678-12_2678-9del
NM_001345921.1:c.2288-12_2288-9del	NP_001332850.1:n.2288-12_2288-9del
NM_001345922.1:c.2216-12_2216-9del	NP_001332851.1:n.2216-12_2216-9del
NM_016218.3:c.2486-12_2486-9del	NP_057302.1:n.2486-12_2486-9del
NR_144315.1:n.2492-12_2492-9del
XM_005248534.5:c.2528-12_2528-9del	XP_005248591.1:n.2528-12_2528-9del
XM_006714652.4:c.1241-12_1241-9del	XP_006714715.1:n.1241-12_1241-9del
XM_011543463.3:c.2528-12_2528-9del	XP_011541765.1:n.2528-12_2528-9del
XM_011543464.3:c.2528-12_2528-9del	XP_011541766.1:n.2528-12_2528-9del
XM_011543467.3:c.2258-12_2258-9del	XP_011541769.1:n.2258-12_2258-9del
XM_017009559.2:c.2486-12_2486-9del	XP_016865048.1:n.2486-12_2486-9del
XM_017009560.2:c.2486-12_2486-9del	XP_016865049.1:n.2486-12_2486-9del
XM_017009561.2:c.2330-12_2330-9del	XP_016865050.1:n.2330-12_2330-9del
XM_017009563.2:c.2216-12_2216-9del	XP_016865052.1:n.2216-12_2216-9del
XR_001742105.2:n.2976-12_2976-9del
XR_001742107.2:n.3060-12_3060-9del
XR_001742108.2:n.2594-12_2594-9del
XR_241784.3:n.3018-12_3018-9del
XR_948273.3:n.2678-12_2678-9del
NM_001345921.2:c.2288-12_2288-9del	NP_001332850.1:n.2288-12_2288-9del
NM_001345922.2:c.2216-12_2216-9del	NP_001332851.1:n.2216-12_2216-9del
NM_001387110.2:c.2477-12_2477-9del	NP_001374039.1:n.2477-12_2477-9del
NM_001387111.2:c.2528-12_2528-9del	NP_001374040.1:n.2528-12_2528-9del
NM_001387113.2:c.2486-12_2486-9del	NP_001374042.1:n.2486-12_2486-9del
NM_016218.5:c.2486-12_2486-9del	NP_057302.1:n.2486-12_2486-9del
NR_144315.2:n.2351-12_2351-9del
NR_170559.2:n.2340-12_2340-9del
NR_170560.2:n.2572-12_2572-9del
NM_001345921.3:c.2288-12_2288-9del	NP_001332850.1:n.2288-12_2288-9del
NM_001345922.3:c.2216-12_2216-9del	NP_001332851.1:n.2216-12_2216-9del
NM_001387110.3:c.2477-12_2477-9del	NP_001374039.1:n.2477-12_2477-9del
NM_001387111.3:c.2528-12_2528-9del	NP_001374040.1:n.2528-12_2528-9del
NM_001387113.3:c.2486-12_2486-9del	NP_001374042.1:n.2486-12_2486-9del
NM_001395893.1:c.2216-12_2216-9del	NP_001382822.1:n.2216-12_2216-9del
NM_001395894.1:c.2528-12_2528-9del	NP_001382823.1:n.2528-12_2528-9del
NM_001395897.1:c.2525-12_2525-9del	NP_001382826.1:n.2525-12_2525-9del
NM_001395899.1:c.2333-12_2333-9del	NP_001382828.1:n.2333-12_2333-9del
NM_001395900.1:c.2288-12_2288-9del	NP_001382829.1:n.2288-12_2288-9del
NM_001395901.1:c.2246-12_2246-9del	NP_001382830.1:n.2246-12_2246-9del
NM_001395902.1:c.2216-12_2216-9del	NP_001382831.1:n.2216-12_2216-9del
NM_016218.6:c.2486-12_2486-9del MANE Select	NP_057302.1:n.2486-12_2486-9del
NR_144315.3:n.2351-12_2351-9del
NR_170559.3:n.2340-12_2340-9del
NR_170560.3:n.2572-12_2572-9del