Canonical Allele Identifier: CA16043854

Gene: PFKM

Linked Data

• ClinVar Variation Id: 374699
• ClinVar RCV Id: RCV000416196
• dbSNP Id: rs1057519206
• MyVariant Identifiers: chr12:g.48538807_48538810del (hg19) ; chr12:g.48145024_48145027del (hg38)
• PubMed: PMID:28288114

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48145024_48145027del , CM000674.2:g.48145024_48145027del	GRCh38
NC_000012.11:g.48538807_48538810del , CM000674.1:g.48538807_48538810del	GRCh37
NC_000012.10:g.46825074_46825077del	NCBI36
NG_016199.1:g.44152_44155del
NG_016199.2:g.44772_44775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550257.7:c.2215-7_2215-4del	ENSP00000447997.3:n.2215-7_2215-4del
ENST00000340802.12:c.2206-7_2206-4del	ENSP00000345771.6:n.2206-7_2206-4del
ENST00000359794.11:c.1993-7_1993-4del MANE Select	ENSP00000352842.5:n.1993-7_1993-4del
ENST00000549941.7:c.1735-7_1735-4del	ENSP00000446829.3:n.1735-7_1735-4del
ENST00000550345.6:c.1993-7_1993-4del	ENSP00000450369.2:n.1993-7_1993-4del
ENST00000550924.6:c.1993-7_1993-4del	ENSP00000446945.2:n.1993-7_1993-4del
ENST00000551339.6:c.1993-7_1993-4del	ENSP00000448253.2:n.1993-7_1993-4del
ENST00000642730.1:c.2302-7_2302-4del	ENSP00000496597.1:n.2302-7_2302-4del
ENST00000312352.11:c.1993-7_1993-4del	ENSP00000309438.7:n.1993-7_1993-4del
ENST00000340802.10:c.2206-7_2206-4del	ENSP00000345771.6:n.2206-7_2206-4del
ENST00000359794.9:c.1993-7_1993-4del	ENSP00000352842.5:n.1993-7_1993-4del
ENST00000546964.5:n.2317-7_2317-4del
ENST00000547581.5:c.*2261-7_*2261-4del	ENSP00000447992.1:n.*2261-7_*2261-4del
ENST00000547587.5:c.1993-7_1993-4del	ENSP00000449426.1:n.1993-7_1993-4del
ENST00000551804.5:c.1900-7_1900-4del	ENSP00000448177.1:n.1900-7_1900-4del
ENST00000553055.1:c.269-7_269-4del
NM_000289.5:c.1993-7_1993-4del	NP_000280.1:n.1993-7_1993-4del
NM_001166686.1:c.2206-7_2206-4del	NP_001160158.1:n.2206-7_2206-4del
NM_001166687.1:c.1993-7_1993-4del	NP_001160159.1:n.1993-7_1993-4del
NM_001166688.1:c.1993-7_1993-4del	NP_001160160.1:n.1993-7_1993-4del
XM_005268974.1:c.2302-7_2302-4del	XP_005269031.1:n.2302-7_2302-4del
XM_005268975.1:c.2302-7_2302-4del	XP_005269032.1:n.2302-7_2302-4del
XM_005268976.2:c.2302-7_2302-4del	XP_005269033.1:n.2302-7_2302-4del
XM_005268977.1:c.2206-7_2206-4del	XP_005269034.1:n.2206-7_2206-4del
XM_005268978.2:c.2206-7_2206-4del	XP_005269035.1:n.2206-7_2206-4del
XM_005268979.1:c.2206-7_2206-4del	XP_005269036.1:n.2206-7_2206-4del
XM_011538487.1:c.2209-7_2209-4del	XP_011536789.1:n.2209-7_2209-4del
XM_011538488.1:c.1993-7_1993-4del	XP_011536790.1:n.1993-7_1993-4del
NM_000289.6:c.1993-7_1993-4del MANE Select	NP_000280.1:n.1993-7_1993-4del
NM_001166686.2:c.2206-7_2206-4del	NP_001160158.1:n.2206-7_2206-4del
NM_001354735.1:c.2302-7_2302-4del	NP_001341664.1:n.2302-7_2302-4del
NM_001354736.1:c.2302-7_2302-4del	NP_001341665.1:n.2302-7_2302-4del
NM_001354737.1:c.2206-7_2206-4del	NP_001341666.1:n.2206-7_2206-4del
NM_001354738.1:c.2206-7_2206-4del	NP_001341667.1:n.2206-7_2206-4del
NM_001354739.1:c.2206-7_2206-4del	NP_001341668.1:n.2206-7_2206-4del
NM_001354740.1:c.2137-7_2137-4del	NP_001341669.1:n.2137-7_2137-4del
NM_001354741.1:c.2017-7_2017-4del	NP_001341670.1:n.2017-7_2017-4del
NM_001354742.1:c.1993-7_1993-4del	NP_001341671.1:n.1993-7_1993-4del
NM_001354743.1:c.1993-7_1993-4del	NP_001341672.1:n.1993-7_1993-4del
NM_001354744.1:c.1993-7_1993-4del	NP_001341673.1:n.1993-7_1993-4del
NM_001354745.1:c.1906-7_1906-4del	NP_001341674.1:n.1906-7_1906-4del
NM_001354746.1:c.1867-7_1867-4del	NP_001341675.1:n.1867-7_1867-4del
NM_001354747.1:c.1843-7_1843-4del	NP_001341676.1:n.1843-7_1843-4del
NM_001354748.1:c.1843-7_1843-4del	NP_001341677.1:n.1843-7_1843-4del
NM_001363619.1:c.1900-7_1900-4del	NP_001350548.1:n.1900-7_1900-4del
NR_148954.1:n.2430-7_2430-4del
NR_148955.1:n.3066-7_3066-4del
NR_148956.1:n.2356-7_2356-4del
NR_148957.1:n.2585-7_2585-4del
NR_148958.1:n.2333-7_2333-4del
NR_148959.1:n.2259-7_2259-4del
XM_005268976.3:c.2302-7_2302-4del	XP_005269033.1:n.2302-7_2302-4del
XM_017019469.1:c.2113-7_2113-4del	XP_016874958.1:n.2113-7_2113-4del
XM_024449020.1:c.2215-7_2215-4del	XP_024304788.1:n.2215-7_2215-4del
XM_024449021.1:c.2092-7_2092-4del	XP_024304789.1:n.2092-7_2092-4del
XM_024449022.1:c.1993-7_1993-4del	XP_024304790.1:n.1993-7_1993-4del
NM_001166687.2:c.1993-7_1993-4del	NP_001160159.1:n.1993-7_1993-4del
NM_001166688.2:c.1993-7_1993-4del	NP_001160160.1:n.1993-7_1993-4del
NM_001354741.2:c.2017-7_2017-4del	NP_001341670.1:n.2017-7_2017-4del
NM_001354742.2:c.1993-7_1993-4del	NP_001341671.1:n.1993-7_1993-4del
NM_001354743.2:c.1993-7_1993-4del	NP_001341672.1:n.1993-7_1993-4del
NM_001354744.2:c.1993-7_1993-4del	NP_001341673.1:n.1993-7_1993-4del
NM_001354745.2:c.1906-7_1906-4del	NP_001341674.1:n.1906-7_1906-4del
NM_001354746.2:c.1867-7_1867-4del	NP_001341675.1:n.1867-7_1867-4del
NM_001354747.2:c.1843-7_1843-4del	NP_001341676.1:n.1843-7_1843-4del
NM_001354748.2:c.1843-7_1843-4del	NP_001341677.1:n.1843-7_1843-4del
NM_001363619.2:c.1900-7_1900-4del	NP_001350548.1:n.1900-7_1900-4del
NR_148954.2:n.2296-7_2296-4del
NR_148956.2:n.2222-7_2222-4del
NR_148957.2:n.2451-7_2451-4del
NR_148958.2:n.2199-7_2199-4del
NR_148959.2:n.2125-7_2125-4del