Canonical Allele Identifier: CA2034544814

Gene: PFKM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48144950_48144951delinsCT , CM000674.2:g.48144950_48144951delinsCT	GRCh38
NC_000012.11:g.48538733_48538734delinsCT , CM000674.1:g.48538733_48538734delinsCT	GRCh37
NC_000012.10:g.46825000_46825001delinsCT	NCBI36
NG_016199.1:g.44078_44079delinsCT
NG_016199.2:g.44698_44699delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550257.7:c.2215-81_2215-80delinsCT	ENSP00000447997.3:n.2215-81_2215-80delinsCT
ENST00000340802.12:c.2206-81_2206-80delinsCT	ENSP00000345771.6:n.2206-81_2206-80delinsCT
ENST00000359794.11:c.1993-81_1993-80delinsCT MANE Select	ENSP00000352842.5:n.1993-81_1993-80delinsCT
ENST00000549941.7:c.1735-81_1735-80delinsCT	ENSP00000446829.3:n.1735-81_1735-80delinsCT
ENST00000550345.6:c.1993-81_1993-80delinsCT	ENSP00000450369.2:n.1993-81_1993-80delinsCT
ENST00000550924.6:c.1993-81_1993-80delinsCT	ENSP00000446945.2:n.1993-81_1993-80delinsCT
ENST00000551339.6:c.1993-81_1993-80delinsCT	ENSP00000448253.2:n.1993-81_1993-80delinsCT
ENST00000642730.1:c.2302-81_2302-80delinsCT	ENSP00000496597.1:n.2302-81_2302-80delinsCT
ENST00000312352.11:c.1993-81_1993-80delinsCT	ENSP00000309438.7:n.1993-81_1993-80delinsCT
ENST00000340802.10:c.2206-81_2206-80delinsCT	ENSP00000345771.6:n.2206-81_2206-80delinsCT
ENST00000359794.9:c.1993-81_1993-80delinsCT	ENSP00000352842.5:n.1993-81_1993-80delinsCT
ENST00000546964.5:n.2317-81_2317-80delinsCT
ENST00000547581.5:c.*2261-81_*2261-80delinsCT	ENSP00000447992.1:n.*2261-81_*2261-80delinsCT
ENST00000547587.5:c.1993-81_1993-80delinsCT	ENSP00000449426.1:n.1993-81_1993-80delinsCT
ENST00000551804.5:c.1900-81_1900-80delinsCT	ENSP00000448177.1:n.1900-81_1900-80delinsCT
ENST00000553055.1:c.269-81_269-80delinsCT
NM_000289.5:c.1993-81_1993-80delinsCT	NP_000280.1:n.1993-81_1993-80delinsCT
NM_001166686.1:c.2206-81_2206-80delinsCT	NP_001160158.1:n.2206-81_2206-80delinsCT
NM_001166687.1:c.1993-81_1993-80delinsCT	NP_001160159.1:n.1993-81_1993-80delinsCT
NM_001166688.1:c.1993-81_1993-80delinsCT	NP_001160160.1:n.1993-81_1993-80delinsCT
XM_005268974.1:c.2302-81_2302-80delinsCT	XP_005269031.1:n.2302-81_2302-80delinsCT
XM_005268975.1:c.2302-81_2302-80delinsCT	XP_005269032.1:n.2302-81_2302-80delinsCT
XM_005268976.2:c.2302-81_2302-80delinsCT	XP_005269033.1:n.2302-81_2302-80delinsCT
XM_005268977.1:c.2206-81_2206-80delinsCT	XP_005269034.1:n.2206-81_2206-80delinsCT
XM_005268978.2:c.2206-81_2206-80delinsCT	XP_005269035.1:n.2206-81_2206-80delinsCT
XM_005268979.1:c.2206-81_2206-80delinsCT	XP_005269036.1:n.2206-81_2206-80delinsCT
XM_011538487.1:c.2209-81_2209-80delinsCT	XP_011536789.1:n.2209-81_2209-80delinsCT
XM_011538488.1:c.1993-81_1993-80delinsCT	XP_011536790.1:n.1993-81_1993-80delinsCT
NM_000289.6:c.1993-81_1993-80delinsCT MANE Select	NP_000280.1:n.1993-81_1993-80delinsCT
NM_001166686.2:c.2206-81_2206-80delinsCT	NP_001160158.1:n.2206-81_2206-80delinsCT
NM_001354735.1:c.2302-81_2302-80delinsCT	NP_001341664.1:n.2302-81_2302-80delinsCT
NM_001354736.1:c.2302-81_2302-80delinsCT	NP_001341665.1:n.2302-81_2302-80delinsCT
NM_001354737.1:c.2206-81_2206-80delinsCT	NP_001341666.1:n.2206-81_2206-80delinsCT
NM_001354738.1:c.2206-81_2206-80delinsCT	NP_001341667.1:n.2206-81_2206-80delinsCT
NM_001354739.1:c.2206-81_2206-80delinsCT	NP_001341668.1:n.2206-81_2206-80delinsCT
NM_001354740.1:c.2137-81_2137-80delinsCT	NP_001341669.1:n.2137-81_2137-80delinsCT
NM_001354741.1:c.2017-81_2017-80delinsCT	NP_001341670.1:n.2017-81_2017-80delinsCT
NM_001354742.1:c.1993-81_1993-80delinsCT	NP_001341671.1:n.1993-81_1993-80delinsCT
NM_001354743.1:c.1993-81_1993-80delinsCT	NP_001341672.1:n.1993-81_1993-80delinsCT
NM_001354744.1:c.1993-81_1993-80delinsCT	NP_001341673.1:n.1993-81_1993-80delinsCT
NM_001354745.1:c.1906-81_1906-80delinsCT	NP_001341674.1:n.1906-81_1906-80delinsCT
NM_001354746.1:c.1867-81_1867-80delinsCT	NP_001341675.1:n.1867-81_1867-80delinsCT
NM_001354747.1:c.1843-81_1843-80delinsCT	NP_001341676.1:n.1843-81_1843-80delinsCT
NM_001354748.1:c.1843-81_1843-80delinsCT	NP_001341677.1:n.1843-81_1843-80delinsCT
NM_001363619.1:c.1900-81_1900-80delinsCT	NP_001350548.1:n.1900-81_1900-80delinsCT
NR_148954.1:n.2430-81_2430-80delinsCT
NR_148955.1:n.3066-81_3066-80delinsCT
NR_148956.1:n.2356-81_2356-80delinsCT
NR_148957.1:n.2585-81_2585-80delinsCT
NR_148958.1:n.2333-81_2333-80delinsCT
NR_148959.1:n.2259-81_2259-80delinsCT
XM_005268976.3:c.2302-81_2302-80delinsCT	XP_005269033.1:n.2302-81_2302-80delinsCT
XM_017019469.1:c.2113-81_2113-80delinsCT	XP_016874958.1:n.2113-81_2113-80delinsCT
XM_024449020.1:c.2215-81_2215-80delinsCT	XP_024304788.1:n.2215-81_2215-80delinsCT
XM_024449021.1:c.2092-81_2092-80delinsCT	XP_024304789.1:n.2092-81_2092-80delinsCT
XM_024449022.1:c.1993-81_1993-80delinsCT	XP_024304790.1:n.1993-81_1993-80delinsCT
NM_001166687.2:c.1993-81_1993-80delinsCT	NP_001160159.1:n.1993-81_1993-80delinsCT
NM_001166688.2:c.1993-81_1993-80delinsCT	NP_001160160.1:n.1993-81_1993-80delinsCT
NM_001354741.2:c.2017-81_2017-80delinsCT	NP_001341670.1:n.2017-81_2017-80delinsCT
NM_001354742.2:c.1993-81_1993-80delinsCT	NP_001341671.1:n.1993-81_1993-80delinsCT
NM_001354743.2:c.1993-81_1993-80delinsCT	NP_001341672.1:n.1993-81_1993-80delinsCT
NM_001354744.2:c.1993-81_1993-80delinsCT	NP_001341673.1:n.1993-81_1993-80delinsCT
NM_001354745.2:c.1906-81_1906-80delinsCT	NP_001341674.1:n.1906-81_1906-80delinsCT
NM_001354746.2:c.1867-81_1867-80delinsCT	NP_001341675.1:n.1867-81_1867-80delinsCT
NM_001354747.2:c.1843-81_1843-80delinsCT	NP_001341676.1:n.1843-81_1843-80delinsCT
NM_001354748.2:c.1843-81_1843-80delinsCT	NP_001341677.1:n.1843-81_1843-80delinsCT
NM_001363619.2:c.1900-81_1900-80delinsCT	NP_001350548.1:n.1900-81_1900-80delinsCT
NR_148954.2:n.2296-81_2296-80delinsCT
NR_148956.2:n.2222-81_2222-80delinsCT
NR_148957.2:n.2451-81_2451-80delinsCT
NR_148958.2:n.2199-81_2199-80delinsCT
NR_148959.2:n.2125-81_2125-80delinsCT