Canonical Allele Identifier: CA2618528706
Gene: PFKM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48145151_48145162del , CM000674.2:g.48145151_48145162del GRCh38
NC_000012.11:g.48538934_48538945del , CM000674.1:g.48538934_48538945del GRCh37
NC_000012.10:g.46825201_46825212del NCBI36
NG_016199.1:g.44279_44290del
NG_016199.2:g.44899_44910del

Transcript Alleles

HGVS Amino-acid Change
ENST00000550257.7:c.2314+21_2314+32del ENSP00000447997.3:n.2314+21_2314+32del
ENST00000340802.12:c.2305+21_2305+32del ENSP00000345771.6:n.2305+21_2305+32del
ENST00000359794.11:c.2092+21_2092+32del MANE Select ENSP00000352842.5:n.2092+21_2092+32del
ENST00000549941.7:c.1834+21_1834+32del ENSP00000446829.3:n.1834+21_1834+32del
ENST00000550345.6:c.2092+21_2092+32del ENSP00000450369.2:n.2092+21_2092+32del
ENST00000550924.6:c.2092+21_2092+32del ENSP00000446945.2:n.2092+21_2092+32del
ENST00000551339.6:c.2092+21_2092+32del ENSP00000448253.2:n.2092+21_2092+32del
ENST00000642730.1:c.2401+21_2401+32del ENSP00000496597.1:n.2401+21_2401+32del
ENST00000312352.11:c.2092+21_2092+32del ENSP00000309438.7:n.2092+21_2092+32del
ENST00000340802.10:c.2305+21_2305+32del ENSP00000345771.6:n.2305+21_2305+32del
ENST00000359794.9:c.2092+21_2092+32del ENSP00000352842.5:n.2092+21_2092+32del
ENST00000546964.5:n.2416+21_2416+32del
ENST00000547581.5:c.*2360+21_*2360+32del ENSP00000447992.1:n.*2360+21_*2360+32del
ENST00000547587.5:c.2092+21_2092+32del ENSP00000449426.1:n.2092+21_2092+32del
ENST00000551804.5:c.1999+21_1999+32del ENSP00000448177.1:n.1999+21_1999+32del
NM_000289.5:c.2092+21_2092+32del NP_000280.1:n.2092+21_2092+32del
NM_001166686.1:c.2305+21_2305+32del NP_001160158.1:n.2305+21_2305+32del
NM_001166687.1:c.2092+21_2092+32del NP_001160159.1:n.2092+21_2092+32del
NM_001166688.1:c.2092+21_2092+32del NP_001160160.1:n.2092+21_2092+32del
XM_005268974.1:c.2401+21_2401+32del XP_005269031.1:n.2401+21_2401+32del
XM_005268975.1:c.2401+21_2401+32del XP_005269032.1:n.2401+21_2401+32del
XM_005268976.2:c.2401+21_2401+32del XP_005269033.1:n.2401+21_2401+32del
XM_005268977.1:c.2305+21_2305+32del XP_005269034.1:n.2305+21_2305+32del
XM_005268978.2:c.2305+21_2305+32del XP_005269035.1:n.2305+21_2305+32del
XM_005268979.1:c.2305+21_2305+32del XP_005269036.1:n.2305+21_2305+32del
XM_011538487.1:c.2308+21_2308+32del XP_011536789.1:n.2308+21_2308+32del
XM_011538488.1:c.2092+21_2092+32del XP_011536790.1:n.2092+21_2092+32del
NM_000289.6:c.2092+21_2092+32del MANE Select NP_000280.1:n.2092+21_2092+32del
NM_001166686.2:c.2305+21_2305+32del NP_001160158.1:n.2305+21_2305+32del
NM_001354735.1:c.2401+21_2401+32del NP_001341664.1:n.2401+21_2401+32del
NM_001354736.1:c.2401+21_2401+32del NP_001341665.1:n.2401+21_2401+32del
NM_001354737.1:c.2305+21_2305+32del NP_001341666.1:n.2305+21_2305+32del
NM_001354738.1:c.2305+21_2305+32del NP_001341667.1:n.2305+21_2305+32del
NM_001354739.1:c.2305+21_2305+32del NP_001341668.1:n.2305+21_2305+32del
NM_001354740.1:c.2236+21_2236+32del NP_001341669.1:n.2236+21_2236+32del
NM_001354741.1:c.2116+21_2116+32del NP_001341670.1:n.2116+21_2116+32del
NM_001354742.1:c.2092+21_2092+32del NP_001341671.1:n.2092+21_2092+32del
NM_001354743.1:c.2092+21_2092+32del NP_001341672.1:n.2092+21_2092+32del
NM_001354744.1:c.2092+21_2092+32del NP_001341673.1:n.2092+21_2092+32del
NM_001354745.1:c.2005+21_2005+32del NP_001341674.1:n.2005+21_2005+32del
NM_001354746.1:c.1966+21_1966+32del NP_001341675.1:n.1966+21_1966+32del
NM_001354747.1:c.1942+21_1942+32del NP_001341676.1:n.1942+21_1942+32del
NM_001354748.1:c.1942+21_1942+32del NP_001341677.1:n.1942+21_1942+32del
NM_001363619.1:c.1999+21_1999+32del NP_001350548.1:n.1999+21_1999+32del
NR_148954.1:n.2529+21_2529+32del
NR_148955.1:n.3165+21_3165+32del
NR_148956.1:n.2455+21_2455+32del
NR_148957.1:n.2684+21_2684+32del
NR_148958.1:n.2432+21_2432+32del
NR_148959.1:n.2358+21_2358+32del
XM_005268976.3:c.2401+21_2401+32del XP_005269033.1:n.2401+21_2401+32del
XM_017019469.1:c.2212+21_2212+32del XP_016874958.1:n.2212+21_2212+32del
XM_024449020.1:c.2314+21_2314+32del XP_024304788.1:n.2314+21_2314+32del
XM_024449021.1:c.2191+21_2191+32del XP_024304789.1:n.2191+21_2191+32del
XM_024449022.1:c.2092+21_2092+32del XP_024304790.1:n.2092+21_2092+32del
NM_001166687.2:c.2092+21_2092+32del NP_001160159.1:n.2092+21_2092+32del
NM_001166688.2:c.2092+21_2092+32del NP_001160160.1:n.2092+21_2092+32del
NM_001354741.2:c.2116+21_2116+32del NP_001341670.1:n.2116+21_2116+32del
NM_001354742.2:c.2092+21_2092+32del NP_001341671.1:n.2092+21_2092+32del
NM_001354743.2:c.2092+21_2092+32del NP_001341672.1:n.2092+21_2092+32del
NM_001354744.2:c.2092+21_2092+32del NP_001341673.1:n.2092+21_2092+32del
NM_001354745.2:c.2005+21_2005+32del NP_001341674.1:n.2005+21_2005+32del
NM_001354746.2:c.1966+21_1966+32del NP_001341675.1:n.1966+21_1966+32del
NM_001354747.2:c.1942+21_1942+32del NP_001341676.1:n.1942+21_1942+32del
NM_001354748.2:c.1942+21_1942+32del NP_001341677.1:n.1942+21_1942+32del
NM_001363619.2:c.1999+21_1999+32del NP_001350548.1:n.1999+21_1999+32del
NR_148954.2:n.2395+21_2395+32del
NR_148956.2:n.2321+21_2321+32del
NR_148957.2:n.2550+21_2550+32del
NR_148958.2:n.2298+21_2298+32del
NR_148959.2:n.2224+21_2224+32del