Canonical Allele Identifier: CA2674280460

Gene: POLK

Linked Data

• gnomAD v4: 5-75597885-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597887_75597888del , CM000667.2:g.75597887_75597888del	GRCh38
NC_000005.9:g.74893712_74893713del , CM000667.1:g.74893712_74893713del	GRCh37
NC_000005.8:g.74929468_74929469del	NCBI36
NG_051590.1:g.91138_91139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2529-47_2529-46del MANE Select	ENSP00000241436.4:n.2529-47_2529-46del
ENST00000241436.8:c.2529-47_2529-46del	ENSP00000241436.4:n.2529-47_2529-46del
ENST00000502567.1:n.374-47_374-46del
ENST00000503479.6:c.*1052-47_*1052-46del	ENSP00000421997.2:n.*1052-47_*1052-46del
ENST00000504026.5:c.1400-47_1400-46del	ENSP00000425075.1:n.1400-47_1400-46del
ENST00000505069.1:n.206_207del
ENST00000505975.5:c.2643-47_2643-46del	ENSP00000424859.1:n.2643-47_2643-46del
ENST00000506928.5:n.2652-47_2652-46del
ENST00000508526.5:c.1935-47_1935-46del	ENSP00000426853.1:n.1935-47_1935-46del
ENST00000509126.2:c.2357-47_2357-46del	ENSP00000423532.1:n.2357-47_2357-46del
ENST00000510815.6:c.*1052-47_*1052-46del	ENSP00000422094.2:n.*1052-47_*1052-46del
ENST00000511527.5:c.1514-47_1514-46del	ENSP00000420997.1:n.1514-47_1514-46del
ENST00000514141.5:c.*1148-47_*1148-46del	ENSP00000423526.1:n.*1148-47_*1148-46del
NM_016218.2:c.2529-47_2529-46del	NP_057302.1:n.2529-47_2529-46del
XM_005248534.3:c.2571-47_2571-46del	XP_005248591.1:n.2571-47_2571-46del
XM_006714652.2:c.1284-47_1284-46del	XP_006714715.1:n.1284-47_1284-46del
XM_011543463.1:c.2571-47_2571-46del	XP_011541765.1:n.2571-47_2571-46del
XM_011543464.1:c.2571-47_2571-46del	XP_011541766.1:n.2571-47_2571-46del
XM_011543465.1:c.2571-47_2571-46del	XP_011541767.1:n.2571-47_2571-46del
XM_011543466.1:c.2571-47_2571-46del	XP_011541768.1:n.2571-47_2571-46del
XM_011543467.1:c.2301-47_2301-46del	XP_011541769.1:n.2301-47_2301-46del
XR_241784.1:n.2537-47_2537-46del
XR_948273.1:n.2721-47_2721-46del
NM_001345921.1:c.2331-47_2331-46del	NP_001332850.1:n.2331-47_2331-46del
NM_001345922.1:c.2259-47_2259-46del	NP_001332851.1:n.2259-47_2259-46del
NM_016218.3:c.2529-47_2529-46del	NP_057302.1:n.2529-47_2529-46del
NR_144315.1:n.2535-47_2535-46del
XM_005248534.5:c.2571-47_2571-46del	XP_005248591.1:n.2571-47_2571-46del
XM_006714652.4:c.1284-47_1284-46del	XP_006714715.1:n.1284-47_1284-46del
XM_011543463.3:c.2571-47_2571-46del	XP_011541765.1:n.2571-47_2571-46del
XM_011543464.3:c.2571-47_2571-46del	XP_011541766.1:n.2571-47_2571-46del
XM_011543467.3:c.2301-47_2301-46del	XP_011541769.1:n.2301-47_2301-46del
XM_017009559.2:c.2529-47_2529-46del	XP_016865048.1:n.2529-47_2529-46del
XM_017009560.2:c.2529-47_2529-46del	XP_016865049.1:n.2529-47_2529-46del
XM_017009561.2:c.2373-47_2373-46del	XP_016865050.1:n.2373-47_2373-46del
XM_017009563.2:c.2259-47_2259-46del	XP_016865052.1:n.2259-47_2259-46del
XR_001742105.2:n.3019-47_3019-46del
XR_001742107.2:n.3103-47_3103-46del
XR_001742108.2:n.2637-47_2637-46del
XR_241784.3:n.3061-47_3061-46del
XR_948273.3:n.2721-47_2721-46del
NM_001345921.2:c.2331-47_2331-46del	NP_001332850.1:n.2331-47_2331-46del
NM_001345922.2:c.2259-47_2259-46del	NP_001332851.1:n.2259-47_2259-46del
NM_001387110.2:c.2520-47_2520-46del	NP_001374039.1:n.2520-47_2520-46del
NM_001387111.2:c.2571-47_2571-46del	NP_001374040.1:n.2571-47_2571-46del
NM_001387113.2:c.2529-47_2529-46del	NP_001374042.1:n.2529-47_2529-46del
NM_016218.5:c.2529-47_2529-46del	NP_057302.1:n.2529-47_2529-46del
NR_144315.2:n.2394-47_2394-46del
NR_170559.2:n.2383-47_2383-46del
NR_170560.2:n.2615-47_2615-46del
NM_001345921.3:c.2331-47_2331-46del	NP_001332850.1:n.2331-47_2331-46del
NM_001345922.3:c.2259-47_2259-46del	NP_001332851.1:n.2259-47_2259-46del
NM_001387110.3:c.2520-47_2520-46del	NP_001374039.1:n.2520-47_2520-46del
NM_001387111.3:c.2571-47_2571-46del	NP_001374040.1:n.2571-47_2571-46del
NM_001387113.3:c.2529-47_2529-46del	NP_001374042.1:n.2529-47_2529-46del
NM_001395893.1:c.2259-47_2259-46del	NP_001382822.1:n.2259-47_2259-46del
NM_001395894.1:c.2571-47_2571-46del	NP_001382823.1:n.2571-47_2571-46del
NM_001395897.1:c.2568-47_2568-46del	NP_001382826.1:n.2568-47_2568-46del
NM_001395899.1:c.2376-47_2376-46del	NP_001382828.1:n.2376-47_2376-46del
NM_001395900.1:c.2331-47_2331-46del	NP_001382829.1:n.2331-47_2331-46del
NM_001395901.1:c.2289-47_2289-46del	NP_001382830.1:n.2289-47_2289-46del
NM_001395902.1:c.2259-47_2259-46del	NP_001382831.1:n.2259-47_2259-46del
NM_016218.6:c.2529-47_2529-46del MANE Select	NP_057302.1:n.2529-47_2529-46del
NR_144315.3:n.2394-47_2394-46del
NR_170559.3:n.2383-47_2383-46del
NR_170560.3:n.2615-47_2615-46del