Canonical Allele Identifier: CA6537511

Gene: PFKM

Linked Data

• ClinVar Variation Id: 632192
• ClinVar RCV Id: RCV000779105 ; RCV000826149 ; RCV002464314
• dbSNP Id: rs767095759
• ExAC: 12:48538821 GC / G
• gnomAD v2: 12-48538821-GC-G
• gnomAD v3: 12-48145038-GC-G
• gnomAD v4: 12-48145038-GC-G
• MyVariant Identifiers: chr12:g.48538822del (hg19) ; chr12:g.48145040del (hg38) ; chr12:g.48145039del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48145041del , CM000674.2:g.48145041del	GRCh38
NC_000012.11:g.48538824del , CM000674.1:g.48538824del	GRCh37
NC_000012.10:g.46825091del	NCBI36
NG_016199.1:g.44169del
NG_016199.2:g.44789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550257.7:c.2225del	ENSP00000447997.3:p.Pro742GlnfsTer17
ENST00000340802.12:c.2216del	ENSP00000345771.6:p.Pro739GlnfsTer17
ENST00000359794.11:c.2003del MANE Select	ENSP00000352842.5:p.Pro668GlnfsTer17
ENST00000549941.7:c.1745del	ENSP00000446829.3:p.Pro582GlnfsTer17
ENST00000550345.6:c.2003del	ENSP00000450369.2:p.Pro668GlnfsTer17
ENST00000550924.6:c.2003del	ENSP00000446945.2:p.Pro668GlnfsTer17
ENST00000551339.6:c.2003del	ENSP00000448253.2:p.Pro668GlnfsTer17
ENST00000642730.1:c.2312del	ENSP00000496597.1:p.Pro771GlnfsTer17
ENST00000312352.11:c.2003del	ENSP00000309438.7:p.Pro668GlnfsTer17
ENST00000340802.10:c.2216del	ENSP00000345771.6:p.Pro739GlnfsTer17
ENST00000359794.9:c.2003del	ENSP00000352842.5:p.Pro668GlnfsTer17
ENST00000546964.5:n.2327del
ENST00000547581.5:c.*2271del	ENSP00000447992.1:n.*2271del
ENST00000547587.5:c.2003del	ENSP00000449426.1:p.Pro668GlnfsTer17
ENST00000551804.5:c.1910del	ENSP00000448177.1:p.Pro637GlnfsTer17
ENST00000553055.1:c.279del
NM_000289.5:c.2003del	NP_000280.1:p.Pro668GlnfsTer17
NM_001166686.1:c.2216del	NP_001160158.1:p.Pro739GlnfsTer17
NM_001166687.1:c.2003del	NP_001160159.1:p.Pro668GlnfsTer17
NM_001166688.1:c.2003del	NP_001160160.1:p.Pro668GlnfsTer17
XM_005268974.1:c.2312del	XP_005269031.1:p.Pro771GlnfsTer17
XM_005268975.1:c.2312del	XP_005269032.1:p.Pro771GlnfsTer17
XM_005268976.2:c.2312del	XP_005269033.1:p.Pro771GlnfsTer17
XM_005268977.1:c.2216del	XP_005269034.1:p.Pro739GlnfsTer17
XM_005268978.2:c.2216del	XP_005269035.1:p.Pro739GlnfsTer17
XM_005268979.1:c.2216del	XP_005269036.1:p.Pro739GlnfsTer17
XM_011538487.1:c.2219del	XP_011536789.1:p.Pro740GlnfsTer17
XM_011538488.1:c.2003del	XP_011536790.1:p.Pro668GlnfsTer17
NM_000289.6:c.2003del MANE Select	NP_000280.1:p.Pro668GlnfsTer17
NM_001166686.2:c.2216del	NP_001160158.1:p.Pro739GlnfsTer17
NM_001354735.1:c.2312del	NP_001341664.1:p.Pro771GlnfsTer17
NM_001354736.1:c.2312del	NP_001341665.1:p.Pro771GlnfsTer17
NM_001354737.1:c.2216del	NP_001341666.1:p.Pro739GlnfsTer17
NM_001354738.1:c.2216del	NP_001341667.1:p.Pro739GlnfsTer17
NM_001354739.1:c.2216del	NP_001341668.1:p.Pro739GlnfsTer17
NM_001354740.1:c.2147del	NP_001341669.1:p.Pro716GlnfsTer17
NM_001354741.1:c.2027del	NP_001341670.1:p.Pro676GlnfsTer17
NM_001354742.1:c.2003del	NP_001341671.1:p.Pro668GlnfsTer17
NM_001354743.1:c.2003del	NP_001341672.1:p.Pro668GlnfsTer17
NM_001354744.1:c.2003del	NP_001341673.1:p.Pro668GlnfsTer17
NM_001354745.1:c.1916del	NP_001341674.1:p.Pro639GlnfsTer17
NM_001354746.1:c.1877del	NP_001341675.1:p.Pro626GlnfsTer17
NM_001354747.1:c.1853del	NP_001341676.1:p.Pro618GlnfsTer17
NM_001354748.1:c.1853del	NP_001341677.1:p.Pro618GlnfsTer17
NM_001363619.1:c.1910del	NP_001350548.1:p.Pro637GlnfsTer17
NR_148954.1:n.2440del
NR_148955.1:n.3076del
NR_148956.1:n.2366del
NR_148957.1:n.2595del
NR_148958.1:n.2343del
NR_148959.1:n.2269del
XM_005268976.3:c.2312del	XP_005269033.1:p.Pro771GlnfsTer17
XM_017019469.1:c.2123del	XP_016874958.1:p.Pro708GlnfsTer17
XM_024449020.1:c.2225del	XP_024304788.1:p.Pro742GlnfsTer17
XM_024449021.1:c.2102del	XP_024304789.1:p.Pro701GlnfsTer17
XM_024449022.1:c.2003del	XP_024304790.1:p.Pro668GlnfsTer17
NM_001166687.2:c.2003del	NP_001160159.1:p.Pro668GlnfsTer17
NM_001166688.2:c.2003del	NP_001160160.1:p.Pro668GlnfsTer17
NM_001354741.2:c.2027del	NP_001341670.1:p.Pro676GlnfsTer17
NM_001354742.2:c.2003del	NP_001341671.1:p.Pro668GlnfsTer17
NM_001354743.2:c.2003del	NP_001341672.1:p.Pro668GlnfsTer17
NM_001354744.2:c.2003del	NP_001341673.1:p.Pro668GlnfsTer17
NM_001354745.2:c.1916del	NP_001341674.1:p.Pro639GlnfsTer17
NM_001354746.2:c.1877del	NP_001341675.1:p.Pro626GlnfsTer17
NM_001354747.2:c.1853del	NP_001341676.1:p.Pro618GlnfsTer17
NM_001354748.2:c.1853del	NP_001341677.1:p.Pro618GlnfsTer17
NM_001363619.2:c.1910del	NP_001350548.1:p.Pro637GlnfsTer17
NR_148954.2:n.2306del
NR_148956.2:n.2232del
NR_148957.2:n.2461del
NR_148958.2:n.2209del
NR_148959.2:n.2135del