Canonical Allele Identifier: CA658797898

Gene: PFKM

Linked Data

• ClinVar Variation Id: 526619
• ClinVar RCV Id: RCV000631187 ; RCV002275121
• dbSNP Id: rs1555206566

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48140868_48140869delinsAA , CM000674.2:g.48140868_48140869delinsAA	GRCh38
NC_000012.11:g.48534651_48534652delinsAA , CM000674.1:g.48534651_48534652delinsAA	GRCh37
NC_000012.10:g.46820918_46820919delinsAA	NCBI36
NG_016199.1:g.39996_39997delinsAA
NG_016199.2:g.40616_40617delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550257.7:c.1560_1561delinsAA	ENSP00000447997.3:p.Gln521Lys
ENST00000340802.12:c.1551_1552delinsAA	ENSP00000345771.6:p.Gln518Lys
ENST00000359794.11:c.1338_1339delinsAA MANE Select	ENSP00000352842.5:p.Gln447Lys
ENST00000549941.7:c.1245_1246delinsAA	ENSP00000446829.3:p.Gln416Lys
ENST00000550345.6:c.1338_1339delinsAA	ENSP00000450369.2:p.Gln447Lys
ENST00000550924.6:c.1338_1339delinsAA	ENSP00000446945.2:p.Gln447Lys
ENST00000551339.6:c.1338_1339delinsAA	ENSP00000448253.2:p.Gln447Lys
ENST00000642730.1:c.1647_1648delinsAA	ENSP00000496597.1:p.Gln550Lys
ENST00000312352.11:c.1338_1339delinsAA	ENSP00000309438.7:p.Gln447Lys
ENST00000340802.10:c.1551_1552delinsAA	ENSP00000345771.6:p.Gln518Lys
ENST00000359794.9:c.1338_1339delinsAA	ENSP00000352842.5:p.Gln447Lys
ENST00000546465.1:c.183_184delinsAA	ENSP00000446519.1:p.Gln62Lys
ENST00000546964.5:n.1662_1663delinsAA
ENST00000547148.5:n.766_767delinsAA
ENST00000547581.5:c.*1606_*1607delinsAA	ENSP00000447992.1:n.*1606_*1607delinsAA
ENST00000547587.5:c.1338_1339delinsAA	ENSP00000449426.1:p.Gln447Lys
ENST00000551804.5:c.1245_1246delinsAA	ENSP00000448177.1:p.Gln416Lys
ENST00000552752.5:c.487_488delinsAA
NM_000289.5:c.1338_1339delinsAA	NP_000280.1:p.Gln447Lys
NM_001166686.1:c.1551_1552delinsAA	NP_001160158.1:p.Gln518Lys
NM_001166687.1:c.1338_1339delinsAA	NP_001160159.1:p.Gln447Lys
NM_001166688.1:c.1338_1339delinsAA	NP_001160160.1:p.Gln447Lys
XM_005268974.1:c.1647_1648delinsAA	XP_005269031.1:p.Gln550Lys
XM_005268975.1:c.1647_1648delinsAA	XP_005269032.1:p.Gln550Lys
XM_005268976.2:c.1647_1648delinsAA	XP_005269033.1:p.Gln550Lys
XM_005268977.1:c.1551_1552delinsAA	XP_005269034.1:p.Gln518Lys
XM_005268978.2:c.1551_1552delinsAA	XP_005269035.1:p.Gln518Lys
XM_005268979.1:c.1551_1552delinsAA	XP_005269036.1:p.Gln518Lys
XM_011538487.1:c.1554_1555delinsAA	XP_011536789.1:p.Gln519Lys
XM_011538488.1:c.1338_1339delinsAA	XP_011536790.1:p.Gln447Lys
NM_000289.6:c.1338_1339delinsAA MANE Select	NP_000280.1:p.Gln447Lys
NM_001166686.2:c.1551_1552delinsAA	NP_001160158.1:p.Gln518Lys
NM_001354735.1:c.1647_1648delinsAA	NP_001341664.1:p.Gln550Lys
NM_001354736.1:c.1647_1648delinsAA	NP_001341665.1:p.Gln550Lys
NM_001354737.1:c.1551_1552delinsAA	NP_001341666.1:p.Gln518Lys
NM_001354738.1:c.1551_1552delinsAA	NP_001341667.1:p.Gln518Lys
NM_001354739.1:c.1551_1552delinsAA	NP_001341668.1:p.Gln518Lys
NM_001354740.1:c.1482_1483delinsAA	NP_001341669.1:p.Gln495Lys
NM_001354741.1:c.1362_1363delinsAA	NP_001341670.1:p.Gln455Lys
NM_001354742.1:c.1338_1339delinsAA	NP_001341671.1:p.Gln447Lys
NM_001354743.1:c.1338_1339delinsAA	NP_001341672.1:p.Gln447Lys
NM_001354744.1:c.1338_1339delinsAA	NP_001341673.1:p.Gln447Lys
NM_001354745.1:c.1251_1252delinsAA	NP_001341674.1:p.Gln418Lys
NM_001354746.1:c.1212_1213delinsAA	NP_001341675.1:p.Gln405Lys
NM_001354747.1:c.1188_1189delinsAA	NP_001341676.1:p.Gln397Lys
NM_001354748.1:c.1188_1189delinsAA	NP_001341677.1:p.Gln397Lys
NM_001363619.1:c.1245_1246delinsAA	NP_001350548.1:p.Gln416Lys
NR_148954.1:n.1775_1776delinsAA
NR_148955.1:n.2411_2412delinsAA
NR_148956.1:n.1701_1702delinsAA
NR_148957.1:n.1930_1931delinsAA
NR_148958.1:n.1678_1679delinsAA
NR_148959.1:n.1604_1605delinsAA
XM_005268976.3:c.1647_1648delinsAA	XP_005269033.1:p.Gln550Lys
XM_017019469.1:c.1458_1459delinsAA	XP_016874958.1:p.Gln487Lys
XM_024449020.1:c.1560_1561delinsAA	XP_024304788.1:p.Gln521Lys
XM_024449021.1:c.1437_1438delinsAA	XP_024304789.1:p.Gln480Lys
XM_024449022.1:c.1338_1339delinsAA	XP_024304790.1:p.Gln447Lys
NM_001166687.2:c.1338_1339delinsAA	NP_001160159.1:p.Gln447Lys
NM_001166688.2:c.1338_1339delinsAA	NP_001160160.1:p.Gln447Lys
NM_001354741.2:c.1362_1363delinsAA	NP_001341670.1:p.Gln455Lys
NM_001354742.2:c.1338_1339delinsAA	NP_001341671.1:p.Gln447Lys
NM_001354743.2:c.1338_1339delinsAA	NP_001341672.1:p.Gln447Lys
NM_001354744.2:c.1338_1339delinsAA	NP_001341673.1:p.Gln447Lys
NM_001354745.2:c.1251_1252delinsAA	NP_001341674.1:p.Gln418Lys
NM_001354746.2:c.1212_1213delinsAA	NP_001341675.1:p.Gln405Lys
NM_001354747.2:c.1188_1189delinsAA	NP_001341676.1:p.Gln397Lys
NM_001354748.2:c.1188_1189delinsAA	NP_001341677.1:p.Gln397Lys
NM_001363619.2:c.1245_1246delinsAA	NP_001350548.1:p.Gln416Lys
NR_148954.2:n.1641_1642delinsAA
NR_148956.2:n.1567_1568delinsAA
NR_148957.2:n.1796_1797delinsAA
NR_148958.2:n.1544_1545delinsAA
NR_148959.2:n.1470_1471delinsAA