Canonical Allele Identifier: CA2034544812

Gene: PFKM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48144946_48144948delinsCTT , CM000674.2:g.48144946_48144948delinsCTT	GRCh38
NC_000012.11:g.48538729_48538731delinsCTT , CM000674.1:g.48538729_48538731delinsCTT	GRCh37
NC_000012.10:g.46824996_46824998delinsCTT	NCBI36
NG_016199.1:g.44074_44076delinsCTT
NG_016199.2:g.44694_44696delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550257.7:c.2215-85_2215-83delinsCTT	ENSP00000447997.3:n.2215-85_2215-83delinsCTT
ENST00000340802.12:c.2206-85_2206-83delinsCTT	ENSP00000345771.6:n.2206-85_2206-83delinsCTT
ENST00000359794.11:c.1993-85_1993-83delinsCTT MANE Select	ENSP00000352842.5:n.1993-85_1993-83delinsCTT
ENST00000549941.7:c.1735-85_1735-83delinsCTT	ENSP00000446829.3:n.1735-85_1735-83delinsCTT
ENST00000550345.6:c.1993-85_1993-83delinsCTT	ENSP00000450369.2:n.1993-85_1993-83delinsCTT
ENST00000550924.6:c.1993-85_1993-83delinsCTT	ENSP00000446945.2:n.1993-85_1993-83delinsCTT
ENST00000551339.6:c.1993-85_1993-83delinsCTT	ENSP00000448253.2:n.1993-85_1993-83delinsCTT
ENST00000642730.1:c.2302-85_2302-83delinsCTT	ENSP00000496597.1:n.2302-85_2302-83delinsCTT
ENST00000312352.11:c.1993-85_1993-83delinsCTT	ENSP00000309438.7:n.1993-85_1993-83delinsCTT
ENST00000340802.10:c.2206-85_2206-83delinsCTT	ENSP00000345771.6:n.2206-85_2206-83delinsCTT
ENST00000359794.9:c.1993-85_1993-83delinsCTT	ENSP00000352842.5:n.1993-85_1993-83delinsCTT
ENST00000546964.5:n.2317-85_2317-83delinsCTT
ENST00000547581.5:c.*2261-85_*2261-83delinsCTT	ENSP00000447992.1:n.*2261-85_*2261-83delinsCTT
ENST00000547587.5:c.1993-85_1993-83delinsCTT	ENSP00000449426.1:n.1993-85_1993-83delinsCTT
ENST00000551804.5:c.1900-85_1900-83delinsCTT	ENSP00000448177.1:n.1900-85_1900-83delinsCTT
ENST00000553055.1:c.269-85_269-83delinsCTT
NM_000289.5:c.1993-85_1993-83delinsCTT	NP_000280.1:n.1993-85_1993-83delinsCTT
NM_001166686.1:c.2206-85_2206-83delinsCTT	NP_001160158.1:n.2206-85_2206-83delinsCTT
NM_001166687.1:c.1993-85_1993-83delinsCTT	NP_001160159.1:n.1993-85_1993-83delinsCTT
NM_001166688.1:c.1993-85_1993-83delinsCTT	NP_001160160.1:n.1993-85_1993-83delinsCTT
XM_005268974.1:c.2302-85_2302-83delinsCTT	XP_005269031.1:n.2302-85_2302-83delinsCTT
XM_005268975.1:c.2302-85_2302-83delinsCTT	XP_005269032.1:n.2302-85_2302-83delinsCTT
XM_005268976.2:c.2302-85_2302-83delinsCTT	XP_005269033.1:n.2302-85_2302-83delinsCTT
XM_005268977.1:c.2206-85_2206-83delinsCTT	XP_005269034.1:n.2206-85_2206-83delinsCTT
XM_005268978.2:c.2206-85_2206-83delinsCTT	XP_005269035.1:n.2206-85_2206-83delinsCTT
XM_005268979.1:c.2206-85_2206-83delinsCTT	XP_005269036.1:n.2206-85_2206-83delinsCTT
XM_011538487.1:c.2209-85_2209-83delinsCTT	XP_011536789.1:n.2209-85_2209-83delinsCTT
XM_011538488.1:c.1993-85_1993-83delinsCTT	XP_011536790.1:n.1993-85_1993-83delinsCTT
NM_000289.6:c.1993-85_1993-83delinsCTT MANE Select	NP_000280.1:n.1993-85_1993-83delinsCTT
NM_001166686.2:c.2206-85_2206-83delinsCTT	NP_001160158.1:n.2206-85_2206-83delinsCTT
NM_001354735.1:c.2302-85_2302-83delinsCTT	NP_001341664.1:n.2302-85_2302-83delinsCTT
NM_001354736.1:c.2302-85_2302-83delinsCTT	NP_001341665.1:n.2302-85_2302-83delinsCTT
NM_001354737.1:c.2206-85_2206-83delinsCTT	NP_001341666.1:n.2206-85_2206-83delinsCTT
NM_001354738.1:c.2206-85_2206-83delinsCTT	NP_001341667.1:n.2206-85_2206-83delinsCTT
NM_001354739.1:c.2206-85_2206-83delinsCTT	NP_001341668.1:n.2206-85_2206-83delinsCTT
NM_001354740.1:c.2137-85_2137-83delinsCTT	NP_001341669.1:n.2137-85_2137-83delinsCTT
NM_001354741.1:c.2017-85_2017-83delinsCTT	NP_001341670.1:n.2017-85_2017-83delinsCTT
NM_001354742.1:c.1993-85_1993-83delinsCTT	NP_001341671.1:n.1993-85_1993-83delinsCTT
NM_001354743.1:c.1993-85_1993-83delinsCTT	NP_001341672.1:n.1993-85_1993-83delinsCTT
NM_001354744.1:c.1993-85_1993-83delinsCTT	NP_001341673.1:n.1993-85_1993-83delinsCTT
NM_001354745.1:c.1906-85_1906-83delinsCTT	NP_001341674.1:n.1906-85_1906-83delinsCTT
NM_001354746.1:c.1867-85_1867-83delinsCTT	NP_001341675.1:n.1867-85_1867-83delinsCTT
NM_001354747.1:c.1843-85_1843-83delinsCTT	NP_001341676.1:n.1843-85_1843-83delinsCTT
NM_001354748.1:c.1843-85_1843-83delinsCTT	NP_001341677.1:n.1843-85_1843-83delinsCTT
NM_001363619.1:c.1900-85_1900-83delinsCTT	NP_001350548.1:n.1900-85_1900-83delinsCTT
NR_148954.1:n.2430-85_2430-83delinsCTT
NR_148955.1:n.3066-85_3066-83delinsCTT
NR_148956.1:n.2356-85_2356-83delinsCTT
NR_148957.1:n.2585-85_2585-83delinsCTT
NR_148958.1:n.2333-85_2333-83delinsCTT
NR_148959.1:n.2259-85_2259-83delinsCTT
XM_005268976.3:c.2302-85_2302-83delinsCTT	XP_005269033.1:n.2302-85_2302-83delinsCTT
XM_017019469.1:c.2113-85_2113-83delinsCTT	XP_016874958.1:n.2113-85_2113-83delinsCTT
XM_024449020.1:c.2215-85_2215-83delinsCTT	XP_024304788.1:n.2215-85_2215-83delinsCTT
XM_024449021.1:c.2092-85_2092-83delinsCTT	XP_024304789.1:n.2092-85_2092-83delinsCTT
XM_024449022.1:c.1993-85_1993-83delinsCTT	XP_024304790.1:n.1993-85_1993-83delinsCTT
NM_001166687.2:c.1993-85_1993-83delinsCTT	NP_001160159.1:n.1993-85_1993-83delinsCTT
NM_001166688.2:c.1993-85_1993-83delinsCTT	NP_001160160.1:n.1993-85_1993-83delinsCTT
NM_001354741.2:c.2017-85_2017-83delinsCTT	NP_001341670.1:n.2017-85_2017-83delinsCTT
NM_001354742.2:c.1993-85_1993-83delinsCTT	NP_001341671.1:n.1993-85_1993-83delinsCTT
NM_001354743.2:c.1993-85_1993-83delinsCTT	NP_001341672.1:n.1993-85_1993-83delinsCTT
NM_001354744.2:c.1993-85_1993-83delinsCTT	NP_001341673.1:n.1993-85_1993-83delinsCTT
NM_001354745.2:c.1906-85_1906-83delinsCTT	NP_001341674.1:n.1906-85_1906-83delinsCTT
NM_001354746.2:c.1867-85_1867-83delinsCTT	NP_001341675.1:n.1867-85_1867-83delinsCTT
NM_001354747.2:c.1843-85_1843-83delinsCTT	NP_001341676.1:n.1843-85_1843-83delinsCTT
NM_001354748.2:c.1843-85_1843-83delinsCTT	NP_001341677.1:n.1843-85_1843-83delinsCTT
NM_001363619.2:c.1900-85_1900-83delinsCTT	NP_001350548.1:n.1900-85_1900-83delinsCTT
NR_148954.2:n.2296-85_2296-83delinsCTT
NR_148956.2:n.2222-85_2222-83delinsCTT
NR_148957.2:n.2451-85_2451-83delinsCTT
NR_148958.2:n.2199-85_2199-83delinsCTT
NR_148959.2:n.2125-85_2125-83delinsCTT