Canonical Allele Identifier: CA2034544876

Gene: PFKM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48145038_48145039delinsGC , CM000674.2:g.48145038_48145039delinsGC	GRCh38
NC_000012.11:g.48538821_48538822delinsGC , CM000674.1:g.48538821_48538822delinsGC	GRCh37
NC_000012.10:g.46825088_46825089delinsGC	NCBI36
NG_016199.1:g.44166_44167delinsGC
NG_016199.2:g.44786_44787delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550257.7:c.2222_2223delinsGC	ENSP00000447997.3:p.Ser741=
ENST00000340802.12:c.2213_2214delinsGC	ENSP00000345771.6:p.Ser738=
ENST00000359794.11:c.2000_2001delinsGC MANE Select	ENSP00000352842.5:p.Ser667=
ENST00000549941.7:c.1742_1743delinsGC	ENSP00000446829.3:p.Ser581=
ENST00000550345.6:c.2000_2001delinsGC	ENSP00000450369.2:p.Ser667=
ENST00000550924.6:c.2000_2001delinsGC	ENSP00000446945.2:p.Ser667=
ENST00000551339.6:c.2000_2001delinsGC	ENSP00000448253.2:p.Ser667=
ENST00000642730.1:c.2309_2310delinsGC	ENSP00000496597.1:p.Ser770=
ENST00000312352.11:c.2000_2001delinsGC	ENSP00000309438.7:p.Ser667=
ENST00000340802.10:c.2213_2214delinsGC	ENSP00000345771.6:p.Ser738=
ENST00000359794.9:c.2000_2001delinsGC	ENSP00000352842.5:p.Ser667=
ENST00000546964.5:n.2324_2325delinsGC
ENST00000547581.5:c.*2268_*2269delinsGC	ENSP00000447992.1:n.*2268_*2269delinsGC
ENST00000547587.5:c.2000_2001delinsGC	ENSP00000449426.1:p.Ser667=
ENST00000551804.5:c.1907_1908delinsGC	ENSP00000448177.1:p.Ser636=
ENST00000553055.1:c.276_277delinsGC
NM_000289.5:c.2000_2001delinsGC	NP_000280.1:p.Ser667=
NM_001166686.1:c.2213_2214delinsGC	NP_001160158.1:p.Ser738=
NM_001166687.1:c.2000_2001delinsGC	NP_001160159.1:p.Ser667=
NM_001166688.1:c.2000_2001delinsGC	NP_001160160.1:p.Ser667=
XM_005268974.1:c.2309_2310delinsGC	XP_005269031.1:p.Ser770=
XM_005268975.1:c.2309_2310delinsGC	XP_005269032.1:p.Ser770=
XM_005268976.2:c.2309_2310delinsGC	XP_005269033.1:p.Ser770=
XM_005268977.1:c.2213_2214delinsGC	XP_005269034.1:p.Ser738=
XM_005268978.2:c.2213_2214delinsGC	XP_005269035.1:p.Ser738=
XM_005268979.1:c.2213_2214delinsGC	XP_005269036.1:p.Ser738=
XM_011538487.1:c.2216_2217delinsGC	XP_011536789.1:p.Ser739=
XM_011538488.1:c.2000_2001delinsGC	XP_011536790.1:p.Ser667=
NM_000289.6:c.2000_2001delinsGC MANE Select	NP_000280.1:p.Ser667=
NM_001166686.2:c.2213_2214delinsGC	NP_001160158.1:p.Ser738=
NM_001354735.1:c.2309_2310delinsGC	NP_001341664.1:p.Ser770=
NM_001354736.1:c.2309_2310delinsGC	NP_001341665.1:p.Ser770=
NM_001354737.1:c.2213_2214delinsGC	NP_001341666.1:p.Ser738=
NM_001354738.1:c.2213_2214delinsGC	NP_001341667.1:p.Ser738=
NM_001354739.1:c.2213_2214delinsGC	NP_001341668.1:p.Ser738=
NM_001354740.1:c.2144_2145delinsGC	NP_001341669.1:p.Ser715=
NM_001354741.1:c.2024_2025delinsGC	NP_001341670.1:p.Ser675=
NM_001354742.1:c.2000_2001delinsGC	NP_001341671.1:p.Ser667=
NM_001354743.1:c.2000_2001delinsGC	NP_001341672.1:p.Ser667=
NM_001354744.1:c.2000_2001delinsGC	NP_001341673.1:p.Ser667=
NM_001354745.1:c.1913_1914delinsGC	NP_001341674.1:p.Ser638=
NM_001354746.1:c.1874_1875delinsGC	NP_001341675.1:p.Ser625=
NM_001354747.1:c.1850_1851delinsGC	NP_001341676.1:p.Ser617=
NM_001354748.1:c.1850_1851delinsGC	NP_001341677.1:p.Ser617=
NM_001363619.1:c.1907_1908delinsGC	NP_001350548.1:p.Ser636=
NR_148954.1:n.2437_2438delinsGC
NR_148955.1:n.3073_3074delinsGC
NR_148956.1:n.2363_2364delinsGC
NR_148957.1:n.2592_2593delinsGC
NR_148958.1:n.2340_2341delinsGC
NR_148959.1:n.2266_2267delinsGC
XM_005268976.3:c.2309_2310delinsGC	XP_005269033.1:p.Ser770=
XM_017019469.1:c.2120_2121delinsGC	XP_016874958.1:p.Ser707=
XM_024449020.1:c.2222_2223delinsGC	XP_024304788.1:p.Ser741=
XM_024449021.1:c.2099_2100delinsGC	XP_024304789.1:p.Ser700=
XM_024449022.1:c.2000_2001delinsGC	XP_024304790.1:p.Ser667=
NM_001166687.2:c.2000_2001delinsGC	NP_001160159.1:p.Ser667=
NM_001166688.2:c.2000_2001delinsGC	NP_001160160.1:p.Ser667=
NM_001354741.2:c.2024_2025delinsGC	NP_001341670.1:p.Ser675=
NM_001354742.2:c.2000_2001delinsGC	NP_001341671.1:p.Ser667=
NM_001354743.2:c.2000_2001delinsGC	NP_001341672.1:p.Ser667=
NM_001354744.2:c.2000_2001delinsGC	NP_001341673.1:p.Ser667=
NM_001354745.2:c.1913_1914delinsGC	NP_001341674.1:p.Ser638=
NM_001354746.2:c.1874_1875delinsGC	NP_001341675.1:p.Ser625=
NM_001354747.2:c.1850_1851delinsGC	NP_001341676.1:p.Ser617=
NM_001354748.2:c.1850_1851delinsGC	NP_001341677.1:p.Ser617=
NM_001363619.2:c.1907_1908delinsGC	NP_001350548.1:p.Ser636=
NR_148954.2:n.2303_2304delinsGC
NR_148956.2:n.2229_2230delinsGC
NR_148957.2:n.2458_2459delinsGC
NR_148958.2:n.2206_2207delinsGC
NR_148959.2:n.2132_2133delinsGC