Canonical Allele Identifier: CA2618527492

Gene: PFKM

Linked Data

• gnomAD v4: 12-48141703-ATTCCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48141711_48141716del , CM000674.2:g.48141711_48141716del	GRCh38
NC_000012.11:g.48535494_48535499del , CM000674.1:g.48535494_48535499del	GRCh37
NC_000012.10:g.46821761_46821766del	NCBI36
NG_016199.1:g.40839_40844del
NG_016199.2:g.41459_41464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550257.7:c.1635-29_1635-24del	ENSP00000447997.3:n.1635-29_1635-24del
ENST00000340802.12:c.1626-29_1626-24del	ENSP00000345771.6:n.1626-29_1626-24del
ENST00000359794.11:c.1413-29_1413-24del MANE Select	ENSP00000352842.5:n.1413-29_1413-24del
ENST00000549941.7:c.1320-29_1320-24del	ENSP00000446829.3:n.1320-29_1320-24del
ENST00000550345.6:c.1413-29_1413-24del	ENSP00000450369.2:n.1413-29_1413-24del
ENST00000550924.6:c.1413-29_1413-24del	ENSP00000446945.2:n.1413-29_1413-24del
ENST00000551339.6:c.1413-29_1413-24del	ENSP00000448253.2:n.1413-29_1413-24del
ENST00000642730.1:c.1722-29_1722-24del	ENSP00000496597.1:n.1722-29_1722-24del
ENST00000312352.11:c.1413-29_1413-24del	ENSP00000309438.7:n.1413-29_1413-24del
ENST00000340802.10:c.1626-29_1626-24del	ENSP00000345771.6:n.1626-29_1626-24del
ENST00000359794.9:c.1413-29_1413-24del	ENSP00000352842.5:n.1413-29_1413-24del
ENST00000546465.1:c.258-29_258-24del	ENSP00000446519.1:n.258-29_258-24del
ENST00000546964.5:n.1737-29_1737-24del
ENST00000547581.5:c.*1681-29_*1681-24del	ENSP00000447992.1:n.*1681-29_*1681-24del
ENST00000547587.5:c.1413-29_1413-24del	ENSP00000449426.1:n.1413-29_1413-24del
ENST00000550802.1:n.45-29_45-24del
ENST00000551804.5:c.1320-29_1320-24del	ENSP00000448177.1:n.1320-29_1320-24del
ENST00000552214.1:n.40_45del
ENST00000552752.5:c.562-29_562-24del
NM_000289.5:c.1413-29_1413-24del	NP_000280.1:n.1413-29_1413-24del
NM_001166686.1:c.1626-29_1626-24del	NP_001160158.1:n.1626-29_1626-24del
NM_001166687.1:c.1413-29_1413-24del	NP_001160159.1:n.1413-29_1413-24del
NM_001166688.1:c.1413-29_1413-24del	NP_001160160.1:n.1413-29_1413-24del
XM_005268974.1:c.1722-29_1722-24del	XP_005269031.1:n.1722-29_1722-24del
XM_005268975.1:c.1722-29_1722-24del	XP_005269032.1:n.1722-29_1722-24del
XM_005268976.2:c.1722-29_1722-24del	XP_005269033.1:n.1722-29_1722-24del
XM_005268977.1:c.1626-29_1626-24del	XP_005269034.1:n.1626-29_1626-24del
XM_005268978.2:c.1626-29_1626-24del	XP_005269035.1:n.1626-29_1626-24del
XM_005268979.1:c.1626-29_1626-24del	XP_005269036.1:n.1626-29_1626-24del
XM_011538487.1:c.1629-29_1629-24del	XP_011536789.1:n.1629-29_1629-24del
XM_011538488.1:c.1413-29_1413-24del	XP_011536790.1:n.1413-29_1413-24del
NM_000289.6:c.1413-29_1413-24del MANE Select	NP_000280.1:n.1413-29_1413-24del
NM_001166686.2:c.1626-29_1626-24del	NP_001160158.1:n.1626-29_1626-24del
NM_001354735.1:c.1722-29_1722-24del	NP_001341664.1:n.1722-29_1722-24del
NM_001354736.1:c.1722-29_1722-24del	NP_001341665.1:n.1722-29_1722-24del
NM_001354737.1:c.1626-29_1626-24del	NP_001341666.1:n.1626-29_1626-24del
NM_001354738.1:c.1626-29_1626-24del	NP_001341667.1:n.1626-29_1626-24del
NM_001354739.1:c.1626-29_1626-24del	NP_001341668.1:n.1626-29_1626-24del
NM_001354740.1:c.1557-29_1557-24del	NP_001341669.1:n.1557-29_1557-24del
NM_001354741.1:c.1437-29_1437-24del	NP_001341670.1:n.1437-29_1437-24del
NM_001354742.1:c.1413-29_1413-24del	NP_001341671.1:n.1413-29_1413-24del
NM_001354743.1:c.1413-29_1413-24del	NP_001341672.1:n.1413-29_1413-24del
NM_001354744.1:c.1413-29_1413-24del	NP_001341673.1:n.1413-29_1413-24del
NM_001354745.1:c.1326-29_1326-24del	NP_001341674.1:n.1326-29_1326-24del
NM_001354746.1:c.1287-29_1287-24del	NP_001341675.1:n.1287-29_1287-24del
NM_001354747.1:c.1263-29_1263-24del	NP_001341676.1:n.1263-29_1263-24del
NM_001354748.1:c.1263-29_1263-24del	NP_001341677.1:n.1263-29_1263-24del
NM_001363619.1:c.1320-29_1320-24del	NP_001350548.1:n.1320-29_1320-24del
NR_148954.1:n.1850-29_1850-24del
NR_148955.1:n.2486-29_2486-24del
NR_148956.1:n.1776-29_1776-24del
NR_148957.1:n.2005-29_2005-24del
NR_148958.1:n.1753-29_1753-24del
NR_148959.1:n.1679-29_1679-24del
XM_005268976.3:c.1722-29_1722-24del	XP_005269033.1:n.1722-29_1722-24del
XM_017019469.1:c.1533-29_1533-24del	XP_016874958.1:n.1533-29_1533-24del
XM_024449020.1:c.1635-29_1635-24del	XP_024304788.1:n.1635-29_1635-24del
XM_024449021.1:c.1512-29_1512-24del	XP_024304789.1:n.1512-29_1512-24del
XM_024449022.1:c.1413-29_1413-24del	XP_024304790.1:n.1413-29_1413-24del
NM_001166687.2:c.1413-29_1413-24del	NP_001160159.1:n.1413-29_1413-24del
NM_001166688.2:c.1413-29_1413-24del	NP_001160160.1:n.1413-29_1413-24del
NM_001354741.2:c.1437-29_1437-24del	NP_001341670.1:n.1437-29_1437-24del
NM_001354742.2:c.1413-29_1413-24del	NP_001341671.1:n.1413-29_1413-24del
NM_001354743.2:c.1413-29_1413-24del	NP_001341672.1:n.1413-29_1413-24del
NM_001354744.2:c.1413-29_1413-24del	NP_001341673.1:n.1413-29_1413-24del
NM_001354745.2:c.1326-29_1326-24del	NP_001341674.1:n.1326-29_1326-24del
NM_001354746.2:c.1287-29_1287-24del	NP_001341675.1:n.1287-29_1287-24del
NM_001354747.2:c.1263-29_1263-24del	NP_001341676.1:n.1263-29_1263-24del
NM_001354748.2:c.1263-29_1263-24del	NP_001341677.1:n.1263-29_1263-24del
NM_001363619.2:c.1320-29_1320-24del	NP_001350548.1:n.1320-29_1320-24del
NR_148954.2:n.1716-29_1716-24del
NR_148956.2:n.1642-29_1642-24del
NR_148957.2:n.1871-29_1871-24del
NR_148958.2:n.1619-29_1619-24del
NR_148959.2:n.1545-29_1545-24del