Canonical Allele Identifier: CA2618527577

Gene: PFKM

Linked Data

• gnomAD v4: 12-48141825-GAGGTGAGTGCCTGCCACCATTTCTTCCTCTCTCCCTCCTACCTCCTCTCCCTCTCCCCAATCCTGCCCTTGTGCTCTCTTCTTCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48141829_48141914del , CM000674.2:g.48141829_48141914del	GRCh38
NC_000012.11:g.48535612_48535697del , CM000674.1:g.48535612_48535697del	GRCh37
NC_000012.10:g.46821879_46821964del	NCBI36
NG_016199.1:g.40957_41042del
NG_016199.2:g.41577_41662del

Transcript Alleles

HGVS	Amino-acid change
ENST00000550257.7:c.1722+2_1723del
ENST00000340802.12:c.1713+2_1714del
ENST00000359794.11:c.1500+2_1501del
ENST00000549941.7:c.1407+2_1408del
ENST00000550345.6:c.1500+2_1501del
ENST00000550924.6:c.1500+2_1501del
ENST00000551339.6:c.1500+2_1501del
ENST00000642730.1:c.1809+2_1810del
ENST00000312352.11:c.1500+2_1501del
ENST00000340802.10:c.1713+2_1714del
ENST00000359794.9:c.1500+2_1501del
ENST00000546465.1:c.345+2_346del
ENST00000546964.5:n.1824+2_1825del
ENST00000547581.5:c.*1768+2_*1769del
ENST00000547587.5:c.1500+2_1501del
ENST00000550802.1:n.134_219del
ENST00000551804.5:c.1407+2_1408del
ENST00000552214.1:n.156+2_157del
ENST00000552752.5:c.649+2_650del
ENST00000552818.1:n.123+2_124del
NM_000289.5:c.1500+2_1501del
NM_001166686.1:c.1713+2_1714del
NM_001166687.1:c.1500+2_1501del
NM_001166688.1:c.1500+2_1501del
XM_005268974.1:c.1809+2_1810del
XM_005268975.1:c.1809+2_1810del
XM_005268976.2:c.1809+2_1810del
XM_005268977.1:c.1713+2_1714del
XM_005268978.2:c.1713+2_1714del
XM_005268979.1:c.1713+2_1714del
XM_011538487.1:c.1716+2_1717del
XM_011538488.1:c.1500+2_1501del
NM_000289.6:c.1500+2_1501del
NM_001166686.2:c.1713+2_1714del
NM_001354735.1:c.1809+2_1810del
NM_001354736.1:c.1809+2_1810del
NM_001354737.1:c.1713+2_1714del
NM_001354738.1:c.1713+2_1714del
NM_001354739.1:c.1713+2_1714del
NM_001354740.1:c.1644+2_1645del
NM_001354741.1:c.1524+2_1525del
NM_001354742.1:c.1500+2_1501del
NM_001354743.1:c.1500+2_1501del
NM_001354744.1:c.1500+2_1501del
NM_001354745.1:c.1413+2_1414del
NM_001354746.1:c.1374+2_1375del
NM_001354747.1:c.1350+2_1351del
NM_001354748.1:c.1350+2_1351del
NM_001363619.1:c.1407+2_1408del
NR_148954.1:n.1937+2_1938del
NR_148955.1:n.2573+2_2574del
NR_148956.1:n.1863+2_1864del
NR_148957.1:n.2092+2_2093del
NR_148958.1:n.1840+2_1841del
NR_148959.1:n.1766+2_1767del
XM_005268976.3:c.1809+2_1810del
XM_017019469.1:c.1620+2_1621del
XM_024449020.1:c.1722+2_1723del
XM_024449021.1:c.1599+2_1600del
XM_024449022.1:c.1500+2_1501del
NM_001166687.2:c.1500+2_1501del
NM_001166688.2:c.1500+2_1501del
NM_001354741.2:c.1524+2_1525del
NM_001354742.2:c.1500+2_1501del
NM_001354743.2:c.1500+2_1501del
NM_001354744.2:c.1500+2_1501del
NM_001354745.2:c.1413+2_1414del
NM_001354746.2:c.1374+2_1375del
NM_001354747.2:c.1350+2_1351del
NM_001354748.2:c.1350+2_1351del
NM_001363619.2:c.1407+2_1408del
NR_148954.2:n.1803+2_1804del
NR_148956.2:n.1729+2_1730del
NR_148957.2:n.1958+2_1959del
NR_148958.2:n.1706+2_1707del
NR_148959.2:n.1632+2_1633del