Canonical Allele Identifier: CA689497064

Gene: PFKM

Linked Data

• dbSNP Id: rs1363113382
• gnomAD v3: 12-48141858-CCCT-C
• gnomAD v4: 12-48141858-CCCT-C
• MyVariant Identifiers: chr12:g.48535642_48535644del (hg19) ; chr12:g.48141859_48141861del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48141862_48141864del , CM000674.2:g.48141862_48141864del	GRCh38
NC_000012.11:g.48535645_48535647del , CM000674.1:g.48535645_48535647del	GRCh37
NC_000012.10:g.46821912_46821914del	NCBI36
NG_016199.1:g.40990_40992del
NG_016199.2:g.41610_41612del

Transcript Alleles

HGVS	Amino-acid change
ENST00000550257.7:c.1722+35_1722+37del	ENSP00000447997.3:n.1722+35_1722+37del
ENST00000340802.12:c.1713+35_1713+37del	ENSP00000345771.6:n.1713+35_1713+37del
ENST00000359794.11:c.1500+35_1500+37del MANE Select	ENSP00000352842.5:n.1500+35_1500+37del
ENST00000549941.7:c.1407+35_1407+37del	ENSP00000446829.3:n.1407+35_1407+37del
ENST00000550345.6:c.1500+35_1500+37del	ENSP00000450369.2:n.1500+35_1500+37del
ENST00000550924.6:c.1500+35_1500+37del	ENSP00000446945.2:n.1500+35_1500+37del
ENST00000551339.6:c.1500+35_1500+37del	ENSP00000448253.2:n.1500+35_1500+37del
ENST00000642730.1:c.1809+35_1809+37del	ENSP00000496597.1:n.1809+35_1809+37del
ENST00000312352.11:c.1500+35_1500+37del	ENSP00000309438.7:n.1500+35_1500+37del
ENST00000340802.10:c.1713+35_1713+37del	ENSP00000345771.6:n.1713+35_1713+37del
ENST00000359794.9:c.1500+35_1500+37del	ENSP00000352842.5:n.1500+35_1500+37del
ENST00000546465.1:c.345+35_345+37del	ENSP00000446519.1:n.345+35_345+37del
ENST00000546964.5:n.1824+35_1824+37del
ENST00000547581.5:c.*1768+35_*1768+37del	ENSP00000447992.1:n.*1768+35_*1768+37del
ENST00000547587.5:c.1500+35_1500+37del	ENSP00000449426.1:n.1500+35_1500+37del
ENST00000550802.1:n.167_169del
ENST00000551804.5:c.1407+35_1407+37del	ENSP00000448177.1:n.1407+35_1407+37del
ENST00000552214.1:n.156+35_156+37del
ENST00000552752.5:c.649+35_649+37del
ENST00000552818.1:n.123+35_123+37del
NM_000289.5:c.1500+35_1500+37del	NP_000280.1:n.1500+35_1500+37del
NM_001166686.1:c.1713+35_1713+37del	NP_001160158.1:n.1713+35_1713+37del
NM_001166687.1:c.1500+35_1500+37del	NP_001160159.1:n.1500+35_1500+37del
NM_001166688.1:c.1500+35_1500+37del	NP_001160160.1:n.1500+35_1500+37del
XM_005268974.1:c.1809+35_1809+37del	XP_005269031.1:n.1809+35_1809+37del
XM_005268975.1:c.1809+35_1809+37del	XP_005269032.1:n.1809+35_1809+37del
XM_005268976.2:c.1809+35_1809+37del	XP_005269033.1:n.1809+35_1809+37del
XM_005268977.1:c.1713+35_1713+37del	XP_005269034.1:n.1713+35_1713+37del
XM_005268978.2:c.1713+35_1713+37del	XP_005269035.1:n.1713+35_1713+37del
XM_005268979.1:c.1713+35_1713+37del	XP_005269036.1:n.1713+35_1713+37del
XM_011538487.1:c.1716+35_1716+37del	XP_011536789.1:n.1716+35_1716+37del
XM_011538488.1:c.1500+35_1500+37del	XP_011536790.1:n.1500+35_1500+37del
NM_000289.6:c.1500+35_1500+37del MANE Select	NP_000280.1:n.1500+35_1500+37del
NM_001166686.2:c.1713+35_1713+37del	NP_001160158.1:n.1713+35_1713+37del
NM_001354735.1:c.1809+35_1809+37del	NP_001341664.1:n.1809+35_1809+37del
NM_001354736.1:c.1809+35_1809+37del	NP_001341665.1:n.1809+35_1809+37del
NM_001354737.1:c.1713+35_1713+37del	NP_001341666.1:n.1713+35_1713+37del
NM_001354738.1:c.1713+35_1713+37del	NP_001341667.1:n.1713+35_1713+37del
NM_001354739.1:c.1713+35_1713+37del	NP_001341668.1:n.1713+35_1713+37del
NM_001354740.1:c.1644+35_1644+37del	NP_001341669.1:n.1644+35_1644+37del
NM_001354741.1:c.1524+35_1524+37del	NP_001341670.1:n.1524+35_1524+37del
NM_001354742.1:c.1500+35_1500+37del	NP_001341671.1:n.1500+35_1500+37del
NM_001354743.1:c.1500+35_1500+37del	NP_001341672.1:n.1500+35_1500+37del
NM_001354744.1:c.1500+35_1500+37del	NP_001341673.1:n.1500+35_1500+37del
NM_001354745.1:c.1413+35_1413+37del	NP_001341674.1:n.1413+35_1413+37del
NM_001354746.1:c.1374+35_1374+37del	NP_001341675.1:n.1374+35_1374+37del
NM_001354747.1:c.1350+35_1350+37del	NP_001341676.1:n.1350+35_1350+37del
NM_001354748.1:c.1350+35_1350+37del	NP_001341677.1:n.1350+35_1350+37del
NM_001363619.1:c.1407+35_1407+37del	NP_001350548.1:n.1407+35_1407+37del
NR_148954.1:n.1937+35_1937+37del
NR_148955.1:n.2573+35_2573+37del
NR_148956.1:n.1863+35_1863+37del
NR_148957.1:n.2092+35_2092+37del
NR_148958.1:n.1840+35_1840+37del
NR_148959.1:n.1766+35_1766+37del
XM_005268976.3:c.1809+35_1809+37del	XP_005269033.1:n.1809+35_1809+37del
XM_017019469.1:c.1620+35_1620+37del	XP_016874958.1:n.1620+35_1620+37del
XM_024449020.1:c.1722+35_1722+37del	XP_024304788.1:n.1722+35_1722+37del
XM_024449021.1:c.1599+35_1599+37del	XP_024304789.1:n.1599+35_1599+37del
XM_024449022.1:c.1500+35_1500+37del	XP_024304790.1:n.1500+35_1500+37del
NM_001166687.2:c.1500+35_1500+37del	NP_001160159.1:n.1500+35_1500+37del
NM_001166688.2:c.1500+35_1500+37del	NP_001160160.1:n.1500+35_1500+37del
NM_001354741.2:c.1524+35_1524+37del	NP_001341670.1:n.1524+35_1524+37del
NM_001354742.2:c.1500+35_1500+37del	NP_001341671.1:n.1500+35_1500+37del
NM_001354743.2:c.1500+35_1500+37del	NP_001341672.1:n.1500+35_1500+37del
NM_001354744.2:c.1500+35_1500+37del	NP_001341673.1:n.1500+35_1500+37del
NM_001354745.2:c.1413+35_1413+37del	NP_001341674.1:n.1413+35_1413+37del
NM_001354746.2:c.1374+35_1374+37del	NP_001341675.1:n.1374+35_1374+37del
NM_001354747.2:c.1350+35_1350+37del	NP_001341676.1:n.1350+35_1350+37del
NM_001354748.2:c.1350+35_1350+37del	NP_001341677.1:n.1350+35_1350+37del
NM_001363619.2:c.1407+35_1407+37del	NP_001350548.1:n.1407+35_1407+37del
NR_148954.2:n.1803+35_1803+37del
NR_148956.2:n.1729+35_1729+37del
NR_148957.2:n.1958+35_1958+37del
NR_148958.2:n.1706+35_1706+37del
NR_148959.2:n.1632+35_1632+37del