Canonical Allele Identifier: CA2034544808

Gene: PFKM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48144940_48144941delinsGC , CM000674.2:g.48144940_48144941delinsGC	GRCh38
NC_000012.11:g.48538723_48538724delinsGC , CM000674.1:g.48538723_48538724delinsGC	GRCh37
NC_000012.10:g.46824990_46824991delinsGC	NCBI36
NG_016199.1:g.44068_44069delinsGC
NG_016199.2:g.44688_44689delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550257.7:c.2215-91_2215-90delinsGC	ENSP00000447997.3:n.2215-91_2215-90delinsGC
ENST00000340802.12:c.2206-91_2206-90delinsGC	ENSP00000345771.6:n.2206-91_2206-90delinsGC
ENST00000359794.11:c.1993-91_1993-90delinsGC MANE Select	ENSP00000352842.5:n.1993-91_1993-90delinsGC
ENST00000549941.7:c.1735-91_1735-90delinsGC	ENSP00000446829.3:n.1735-91_1735-90delinsGC
ENST00000550345.6:c.1993-91_1993-90delinsGC	ENSP00000450369.2:n.1993-91_1993-90delinsGC
ENST00000550924.6:c.1993-91_1993-90delinsGC	ENSP00000446945.2:n.1993-91_1993-90delinsGC
ENST00000551339.6:c.1993-91_1993-90delinsGC	ENSP00000448253.2:n.1993-91_1993-90delinsGC
ENST00000642730.1:c.2302-91_2302-90delinsGC	ENSP00000496597.1:n.2302-91_2302-90delinsGC
ENST00000312352.11:c.1993-91_1993-90delinsGC	ENSP00000309438.7:n.1993-91_1993-90delinsGC
ENST00000340802.10:c.2206-91_2206-90delinsGC	ENSP00000345771.6:n.2206-91_2206-90delinsGC
ENST00000359794.9:c.1993-91_1993-90delinsGC	ENSP00000352842.5:n.1993-91_1993-90delinsGC
ENST00000546964.5:n.2317-91_2317-90delinsGC
ENST00000547581.5:c.*2261-91_*2261-90delinsGC	ENSP00000447992.1:n.*2261-91_*2261-90delinsGC
ENST00000547587.5:c.1993-91_1993-90delinsGC	ENSP00000449426.1:n.1993-91_1993-90delinsGC
ENST00000551804.5:c.1900-91_1900-90delinsGC	ENSP00000448177.1:n.1900-91_1900-90delinsGC
ENST00000553055.1:c.269-91_269-90delinsGC
NM_000289.5:c.1993-91_1993-90delinsGC	NP_000280.1:n.1993-91_1993-90delinsGC
NM_001166686.1:c.2206-91_2206-90delinsGC	NP_001160158.1:n.2206-91_2206-90delinsGC
NM_001166687.1:c.1993-91_1993-90delinsGC	NP_001160159.1:n.1993-91_1993-90delinsGC
NM_001166688.1:c.1993-91_1993-90delinsGC	NP_001160160.1:n.1993-91_1993-90delinsGC
XM_005268974.1:c.2302-91_2302-90delinsGC	XP_005269031.1:n.2302-91_2302-90delinsGC
XM_005268975.1:c.2302-91_2302-90delinsGC	XP_005269032.1:n.2302-91_2302-90delinsGC
XM_005268976.2:c.2302-91_2302-90delinsGC	XP_005269033.1:n.2302-91_2302-90delinsGC
XM_005268977.1:c.2206-91_2206-90delinsGC	XP_005269034.1:n.2206-91_2206-90delinsGC
XM_005268978.2:c.2206-91_2206-90delinsGC	XP_005269035.1:n.2206-91_2206-90delinsGC
XM_005268979.1:c.2206-91_2206-90delinsGC	XP_005269036.1:n.2206-91_2206-90delinsGC
XM_011538487.1:c.2209-91_2209-90delinsGC	XP_011536789.1:n.2209-91_2209-90delinsGC
XM_011538488.1:c.1993-91_1993-90delinsGC	XP_011536790.1:n.1993-91_1993-90delinsGC
NM_000289.6:c.1993-91_1993-90delinsGC MANE Select	NP_000280.1:n.1993-91_1993-90delinsGC
NM_001166686.2:c.2206-91_2206-90delinsGC	NP_001160158.1:n.2206-91_2206-90delinsGC
NM_001354735.1:c.2302-91_2302-90delinsGC	NP_001341664.1:n.2302-91_2302-90delinsGC
NM_001354736.1:c.2302-91_2302-90delinsGC	NP_001341665.1:n.2302-91_2302-90delinsGC
NM_001354737.1:c.2206-91_2206-90delinsGC	NP_001341666.1:n.2206-91_2206-90delinsGC
NM_001354738.1:c.2206-91_2206-90delinsGC	NP_001341667.1:n.2206-91_2206-90delinsGC
NM_001354739.1:c.2206-91_2206-90delinsGC	NP_001341668.1:n.2206-91_2206-90delinsGC
NM_001354740.1:c.2137-91_2137-90delinsGC	NP_001341669.1:n.2137-91_2137-90delinsGC
NM_001354741.1:c.2017-91_2017-90delinsGC	NP_001341670.1:n.2017-91_2017-90delinsGC
NM_001354742.1:c.1993-91_1993-90delinsGC	NP_001341671.1:n.1993-91_1993-90delinsGC
NM_001354743.1:c.1993-91_1993-90delinsGC	NP_001341672.1:n.1993-91_1993-90delinsGC
NM_001354744.1:c.1993-91_1993-90delinsGC	NP_001341673.1:n.1993-91_1993-90delinsGC
NM_001354745.1:c.1906-91_1906-90delinsGC	NP_001341674.1:n.1906-91_1906-90delinsGC
NM_001354746.1:c.1867-91_1867-90delinsGC	NP_001341675.1:n.1867-91_1867-90delinsGC
NM_001354747.1:c.1843-91_1843-90delinsGC	NP_001341676.1:n.1843-91_1843-90delinsGC
NM_001354748.1:c.1843-91_1843-90delinsGC	NP_001341677.1:n.1843-91_1843-90delinsGC
NM_001363619.1:c.1900-91_1900-90delinsGC	NP_001350548.1:n.1900-91_1900-90delinsGC
NR_148954.1:n.2430-91_2430-90delinsGC
NR_148955.1:n.3066-91_3066-90delinsGC
NR_148956.1:n.2356-91_2356-90delinsGC
NR_148957.1:n.2585-91_2585-90delinsGC
NR_148958.1:n.2333-91_2333-90delinsGC
NR_148959.1:n.2259-91_2259-90delinsGC
XM_005268976.3:c.2302-91_2302-90delinsGC	XP_005269033.1:n.2302-91_2302-90delinsGC
XM_017019469.1:c.2113-91_2113-90delinsGC	XP_016874958.1:n.2113-91_2113-90delinsGC
XM_024449020.1:c.2215-91_2215-90delinsGC	XP_024304788.1:n.2215-91_2215-90delinsGC
XM_024449021.1:c.2092-91_2092-90delinsGC	XP_024304789.1:n.2092-91_2092-90delinsGC
XM_024449022.1:c.1993-91_1993-90delinsGC	XP_024304790.1:n.1993-91_1993-90delinsGC
NM_001166687.2:c.1993-91_1993-90delinsGC	NP_001160159.1:n.1993-91_1993-90delinsGC
NM_001166688.2:c.1993-91_1993-90delinsGC	NP_001160160.1:n.1993-91_1993-90delinsGC
NM_001354741.2:c.2017-91_2017-90delinsGC	NP_001341670.1:n.2017-91_2017-90delinsGC
NM_001354742.2:c.1993-91_1993-90delinsGC	NP_001341671.1:n.1993-91_1993-90delinsGC
NM_001354743.2:c.1993-91_1993-90delinsGC	NP_001341672.1:n.1993-91_1993-90delinsGC
NM_001354744.2:c.1993-91_1993-90delinsGC	NP_001341673.1:n.1993-91_1993-90delinsGC
NM_001354745.2:c.1906-91_1906-90delinsGC	NP_001341674.1:n.1906-91_1906-90delinsGC
NM_001354746.2:c.1867-91_1867-90delinsGC	NP_001341675.1:n.1867-91_1867-90delinsGC
NM_001354747.2:c.1843-91_1843-90delinsGC	NP_001341676.1:n.1843-91_1843-90delinsGC
NM_001354748.2:c.1843-91_1843-90delinsGC	NP_001341677.1:n.1843-91_1843-90delinsGC
NM_001363619.2:c.1900-91_1900-90delinsGC	NP_001350548.1:n.1900-91_1900-90delinsGC
NR_148954.2:n.2296-91_2296-90delinsGC
NR_148956.2:n.2222-91_2222-90delinsGC
NR_148957.2:n.2451-91_2451-90delinsGC
NR_148958.2:n.2199-91_2199-90delinsGC
NR_148959.2:n.2125-91_2125-90delinsGC