Canonical Allele Identifier: CA2697559257

Gene: PFKM

Linked Data

• ClinVar Variation Id: 2694018
• ClinVar RCV Id: RCV003495402

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48145085_48145144del , CM000674.2:g.48145085_48145144del	GRCh38
NC_000012.11:g.48538868_48538927del , CM000674.1:g.48538868_48538927del	GRCh37
NC_000012.10:g.46825135_46825194del	NCBI36
NG_016199.1:g.44213_44272del
NG_016199.2:g.44833_44892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550257.7:c.2269_2314+14del
ENST00000340802.12:c.2260_2305+14del
ENST00000359794.11:c.2047_2092+14del
ENST00000549941.7:c.1789_1834+14del
ENST00000550345.6:c.2047_2092+14del
ENST00000550924.6:c.2047_2092+14del
ENST00000551339.6:c.2047_2092+14del
ENST00000642730.1:c.2356_2401+14del
ENST00000312352.11:c.2047_2092+14del
ENST00000340802.10:c.2260_2305+14del
ENST00000359794.9:c.2047_2092+14del
ENST00000546964.5:n.2371_2416+14del
ENST00000547581.5:c.*2315_*2360+14del
ENST00000547587.5:c.2047_2092+14del
ENST00000551804.5:c.1954_1999+14del
NM_000289.5:c.2047_2092+14del
NM_001166686.1:c.2260_2305+14del
NM_001166687.1:c.2047_2092+14del
NM_001166688.1:c.2047_2092+14del
XM_005268974.1:c.2356_2401+14del
XM_005268975.1:c.2356_2401+14del
XM_005268976.2:c.2356_2401+14del
XM_005268977.1:c.2260_2305+14del
XM_005268978.2:c.2260_2305+14del
XM_005268979.1:c.2260_2305+14del
XM_011538487.1:c.2263_2308+14del
XM_011538488.1:c.2047_2092+14del
NM_000289.6:c.2047_2092+14del
NM_001166686.2:c.2260_2305+14del
NM_001354735.1:c.2356_2401+14del
NM_001354736.1:c.2356_2401+14del
NM_001354737.1:c.2260_2305+14del
NM_001354738.1:c.2260_2305+14del
NM_001354739.1:c.2260_2305+14del
NM_001354740.1:c.2191_2236+14del
NM_001354741.1:c.2071_2116+14del
NM_001354742.1:c.2047_2092+14del
NM_001354743.1:c.2047_2092+14del
NM_001354744.1:c.2047_2092+14del
NM_001354745.1:c.1960_2005+14del
NM_001354746.1:c.1921_1966+14del
NM_001354747.1:c.1897_1942+14del
NM_001354748.1:c.1897_1942+14del
NM_001363619.1:c.1954_1999+14del
NR_148954.1:n.2484_2529+14del
NR_148955.1:n.3120_3165+14del
NR_148956.1:n.2410_2455+14del
NR_148957.1:n.2639_2684+14del
NR_148958.1:n.2387_2432+14del
NR_148959.1:n.2313_2358+14del
XM_005268976.3:c.2356_2401+14del
XM_017019469.1:c.2167_2212+14del
XM_024449020.1:c.2269_2314+14del
XM_024449021.1:c.2146_2191+14del
XM_024449022.1:c.2047_2092+14del
NM_001166687.2:c.2047_2092+14del
NM_001166688.2:c.2047_2092+14del
NM_001354741.2:c.2071_2116+14del
NM_001354742.2:c.2047_2092+14del
NM_001354743.2:c.2047_2092+14del
NM_001354744.2:c.2047_2092+14del
NM_001354745.2:c.1960_2005+14del
NM_001354746.2:c.1921_1966+14del
NM_001354747.2:c.1897_1942+14del
NM_001354748.2:c.1897_1942+14del
NM_001363619.2:c.1954_1999+14del
NR_148954.2:n.2350_2395+14del
NR_148956.2:n.2276_2321+14del
NR_148957.2:n.2505_2550+14del
NR_148958.2:n.2253_2298+14del
NR_148959.2:n.2179_2224+14del