Canonical Allele Identifier: CA2618527586

Gene: PFKM

Linked Data

• gnomAD v4: 12-48141853-T-TCTCTCCCTCCTACCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48141863_48141878dup , CM000674.2:g.48141863_48141878dup	GRCh38
NC_000012.11:g.48535646_48535661dup , CM000674.1:g.48535646_48535661dup	GRCh37
NC_000012.10:g.46821913_46821928dup	NCBI36
NG_016199.1:g.40991_41006dup
NG_016199.2:g.41611_41626dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000550257.7:c.1722+36_1723-36dup	ENSP00000447997.3:n.1722+36_1723-36dup
ENST00000340802.12:c.1713+36_1714-36dup	ENSP00000345771.6:n.1713+36_1714-36dup
ENST00000359794.11:c.1500+36_1501-36dup MANE Select	ENSP00000352842.5:n.1500+36_1501-36dup
ENST00000549941.7:c.1407+36_1408-36dup	ENSP00000446829.3:n.1407+36_1408-36dup
ENST00000550345.6:c.1500+36_1501-36dup	ENSP00000450369.2:n.1500+36_1501-36dup
ENST00000550924.6:c.1500+36_1501-36dup	ENSP00000446945.2:n.1500+36_1501-36dup
ENST00000551339.6:c.1500+36_1501-36dup	ENSP00000448253.2:n.1500+36_1501-36dup
ENST00000642730.1:c.1809+36_1810-36dup	ENSP00000496597.1:n.1809+36_1810-36dup
ENST00000312352.11:c.1500+36_1501-36dup	ENSP00000309438.7:n.1500+36_1501-36dup
ENST00000340802.10:c.1713+36_1714-36dup	ENSP00000345771.6:n.1713+36_1714-36dup
ENST00000359794.9:c.1500+36_1501-36dup	ENSP00000352842.5:n.1500+36_1501-36dup
ENST00000546465.1:c.345+36_346-36dup	ENSP00000446519.1:n.345+36_346-36dup
ENST00000546964.5:n.1824+36_1825-36dup
ENST00000547581.5:c.*1768+36_*1769-36dup	ENSP00000447992.1:n.*1768+36_*1769-36dup
ENST00000547587.5:c.1500+36_1501-36dup	ENSP00000449426.1:n.1500+36_1501-36dup
ENST00000550802.1:n.168_183dup
ENST00000551804.5:c.1407+36_1408-36dup	ENSP00000448177.1:n.1407+36_1408-36dup
ENST00000552214.1:n.156+36_157-36dup
ENST00000552752.5:c.649+36_650-36dup
ENST00000552818.1:n.123+36_124-36dup
NM_000289.5:c.1500+36_1501-36dup	NP_000280.1:n.1500+36_1501-36dup
NM_001166686.1:c.1713+36_1714-36dup	NP_001160158.1:n.1713+36_1714-36dup
NM_001166687.1:c.1500+36_1501-36dup	NP_001160159.1:n.1500+36_1501-36dup
NM_001166688.1:c.1500+36_1501-36dup	NP_001160160.1:n.1500+36_1501-36dup
XM_005268974.1:c.1809+36_1810-36dup	XP_005269031.1:n.1809+36_1810-36dup
XM_005268975.1:c.1809+36_1810-36dup	XP_005269032.1:n.1809+36_1810-36dup
XM_005268976.2:c.1809+36_1810-36dup	XP_005269033.1:n.1809+36_1810-36dup
XM_005268977.1:c.1713+36_1714-36dup	XP_005269034.1:n.1713+36_1714-36dup
XM_005268978.2:c.1713+36_1714-36dup	XP_005269035.1:n.1713+36_1714-36dup
XM_005268979.1:c.1713+36_1714-36dup	XP_005269036.1:n.1713+36_1714-36dup
XM_011538487.1:c.1716+36_1717-36dup	XP_011536789.1:n.1716+36_1717-36dup
XM_011538488.1:c.1500+36_1501-36dup	XP_011536790.1:n.1500+36_1501-36dup
NM_000289.6:c.1500+36_1501-36dup MANE Select	NP_000280.1:n.1500+36_1501-36dup
NM_001166686.2:c.1713+36_1714-36dup	NP_001160158.1:n.1713+36_1714-36dup
NM_001354735.1:c.1809+36_1810-36dup	NP_001341664.1:n.1809+36_1810-36dup
NM_001354736.1:c.1809+36_1810-36dup	NP_001341665.1:n.1809+36_1810-36dup
NM_001354737.1:c.1713+36_1714-36dup	NP_001341666.1:n.1713+36_1714-36dup
NM_001354738.1:c.1713+36_1714-36dup	NP_001341667.1:n.1713+36_1714-36dup
NM_001354739.1:c.1713+36_1714-36dup	NP_001341668.1:n.1713+36_1714-36dup
NM_001354740.1:c.1644+36_1645-36dup	NP_001341669.1:n.1644+36_1645-36dup
NM_001354741.1:c.1524+36_1525-36dup	NP_001341670.1:n.1524+36_1525-36dup
NM_001354742.1:c.1500+36_1501-36dup	NP_001341671.1:n.1500+36_1501-36dup
NM_001354743.1:c.1500+36_1501-36dup	NP_001341672.1:n.1500+36_1501-36dup
NM_001354744.1:c.1500+36_1501-36dup	NP_001341673.1:n.1500+36_1501-36dup
NM_001354745.1:c.1413+36_1414-36dup	NP_001341674.1:n.1413+36_1414-36dup
NM_001354746.1:c.1374+36_1375-36dup	NP_001341675.1:n.1374+36_1375-36dup
NM_001354747.1:c.1350+36_1351-36dup	NP_001341676.1:n.1350+36_1351-36dup
NM_001354748.1:c.1350+36_1351-36dup	NP_001341677.1:n.1350+36_1351-36dup
NM_001363619.1:c.1407+36_1408-36dup	NP_001350548.1:n.1407+36_1408-36dup
NR_148954.1:n.1937+36_1938-36dup
NR_148955.1:n.2573+36_2574-36dup
NR_148956.1:n.1863+36_1864-36dup
NR_148957.1:n.2092+36_2093-36dup
NR_148958.1:n.1840+36_1841-36dup
NR_148959.1:n.1766+36_1767-36dup
XM_005268976.3:c.1809+36_1810-36dup	XP_005269033.1:n.1809+36_1810-36dup
XM_017019469.1:c.1620+36_1621-36dup	XP_016874958.1:n.1620+36_1621-36dup
XM_024449020.1:c.1722+36_1723-36dup	XP_024304788.1:n.1722+36_1723-36dup
XM_024449021.1:c.1599+36_1600-36dup	XP_024304789.1:n.1599+36_1600-36dup
XM_024449022.1:c.1500+36_1501-36dup	XP_024304790.1:n.1500+36_1501-36dup
NM_001166687.2:c.1500+36_1501-36dup	NP_001160159.1:n.1500+36_1501-36dup
NM_001166688.2:c.1500+36_1501-36dup	NP_001160160.1:n.1500+36_1501-36dup
NM_001354741.2:c.1524+36_1525-36dup	NP_001341670.1:n.1524+36_1525-36dup
NM_001354742.2:c.1500+36_1501-36dup	NP_001341671.1:n.1500+36_1501-36dup
NM_001354743.2:c.1500+36_1501-36dup	NP_001341672.1:n.1500+36_1501-36dup
NM_001354744.2:c.1500+36_1501-36dup	NP_001341673.1:n.1500+36_1501-36dup
NM_001354745.2:c.1413+36_1414-36dup	NP_001341674.1:n.1413+36_1414-36dup
NM_001354746.2:c.1374+36_1375-36dup	NP_001341675.1:n.1374+36_1375-36dup
NM_001354747.2:c.1350+36_1351-36dup	NP_001341676.1:n.1350+36_1351-36dup
NM_001354748.2:c.1350+36_1351-36dup	NP_001341677.1:n.1350+36_1351-36dup
NM_001363619.2:c.1407+36_1408-36dup	NP_001350548.1:n.1407+36_1408-36dup
NR_148954.2:n.1803+36_1804-36dup
NR_148956.2:n.1729+36_1730-36dup
NR_148957.2:n.1958+36_1959-36dup
NR_148958.2:n.1706+36_1707-36dup
NR_148959.2:n.1632+36_1633-36dup