Canonical Allele Identifier: CA2618528686
Gene: PFKM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48145132_48145210del , CM000674.2:g.48145132_48145210del GRCh38
NC_000012.11:g.48538915_48538993del , CM000674.1:g.48538915_48538993del GRCh37
NC_000012.10:g.46825182_46825260del NCBI36
NG_016199.1:g.44260_44338del
NG_016199.2:g.44880_44958del

Transcript Alleles

HGVS Amino-acid Change
ENST00000550257.7:c.2314+2_2315del
ENST00000340802.12:c.2305+2_2306del
ENST00000359794.11:c.2092+2_2093del
ENST00000549941.7:c.1834+2_1835del
ENST00000550345.6:c.2092+2_2093del
ENST00000550924.6:c.2092+2_2093del
ENST00000551339.6:c.2092+2_2093del
ENST00000642730.1:c.2401+2_2402del
ENST00000312352.11:c.2092+2_2093del
ENST00000340802.10:c.2305+2_2306del
ENST00000359794.9:c.2092+2_2093del
ENST00000546964.5:n.2416+2_2417del
ENST00000547581.5:c.*2360+2_*2361del
ENST00000547587.5:c.2092+2_2093del
ENST00000551804.5:c.1999+2_2000del
NM_000289.5:c.2092+2_2093del
NM_001166686.1:c.2305+2_2306del
NM_001166687.1:c.2092+2_2093del
NM_001166688.1:c.2092+2_2093del
XM_005268974.1:c.2401+2_2402del
XM_005268975.1:c.2401+2_2402del
XM_005268976.2:c.2401+2_2402del
XM_005268977.1:c.2305+2_2306del
XM_005268978.2:c.2305+2_2306del
XM_005268979.1:c.2305+2_2306del
XM_011538487.1:c.2308+2_2309del
XM_011538488.1:c.2092+2_2093del
NM_000289.6:c.2092+2_2093del
NM_001166686.2:c.2305+2_2306del
NM_001354735.1:c.2401+2_2402del
NM_001354736.1:c.2401+2_2402del
NM_001354737.1:c.2305+2_2306del
NM_001354738.1:c.2305+2_2306del
NM_001354739.1:c.2305+2_2306del
NM_001354740.1:c.2236+2_2237del
NM_001354741.1:c.2116+2_2117del
NM_001354742.1:c.2092+2_2093del
NM_001354743.1:c.2092+2_2093del
NM_001354744.1:c.2092+2_2093del
NM_001354745.1:c.2005+2_2006del
NM_001354746.1:c.1966+2_1967del
NM_001354747.1:c.1942+2_1943del
NM_001354748.1:c.1942+2_1943del
NM_001363619.1:c.1999+2_2000del
NR_148954.1:n.2529+2_2530del
NR_148955.1:n.3165+2_3166del
NR_148956.1:n.2455+2_2456del
NR_148957.1:n.2684+2_2685del
NR_148958.1:n.2432+2_2433del
NR_148959.1:n.2358+2_2359del
XM_005268976.3:c.2401+2_2402del
XM_017019469.1:c.2212+2_2213del
XM_024449020.1:c.2314+2_2315del
XM_024449021.1:c.2191+2_2192del
XM_024449022.1:c.2092+2_2093del
NM_001166687.2:c.2092+2_2093del
NM_001166688.2:c.2092+2_2093del
NM_001354741.2:c.2116+2_2117del
NM_001354742.2:c.2092+2_2093del
NM_001354743.2:c.2092+2_2093del
NM_001354744.2:c.2092+2_2093del
NM_001354745.2:c.2005+2_2006del
NM_001354746.2:c.1966+2_1967del
NM_001354747.2:c.1942+2_1943del
NM_001354748.2:c.1942+2_1943del
NM_001363619.2:c.1999+2_2000del
NR_148954.2:n.2395+2_2396del
NR_148956.2:n.2321+2_2322del
NR_148957.2:n.2550+2_2551del
NR_148958.2:n.2298+2_2299del
NR_148959.2:n.2224+2_2225del