Canonical Allele Identifier: CA1729548334

Gene: ACHE

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100892049_100892051delinsAAG , CM000669.2:g.100892049_100892051delinsAAG	GRCh38
NC_000007.13:g.100489670_100489672delinsAAG , CM000669.1:g.100489670_100489672delinsAAG	GRCh37
NC_000007.12:g.100327606_100327608delinsAAG	NCBI36
NG_007474.1:g.8870_8872delinsCTT
NG_007474.2:g.9083_9085delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241069.11:c.1553+283_1553+285delinsCTT MANE Select	ENSP00000241069.5:n.1553+283_1553+285delinsCTT
ENST00000411582.4:c.1553+283_1553+285delinsCTT	ENSP00000404865.1:n.1553+283_1553+285delinsCTT
ENST00000428317.7:c.1553+283_1553+285delinsCTT	ENSP00000414858.1:n.1553+283_1553+285delinsCTT
ENST00000651875.1:n.1996+283_1996+285delinsCTT
ENST00000241069.9:c.1553+283_1553+285delinsCTT	ENSP00000241069.5:n.1553+283_1553+285delinsCTT
ENST00000302913.8:c.1553+283_1553+285delinsCTT	ENSP00000303211.4:n.1553+283_1553+285delinsCTT
ENST00000411582.1:c.1553+283_1553+285delinsCTT	ENSP00000404865.1:n.1553+283_1553+285delinsCTT
ENST00000412389.5:c.1553+283_1553+285delinsCTT	ENSP00000394976.1:n.1553+283_1553+285delinsCTT
ENST00000419336.6:c.1289+283_1289+285delinsCTT	ENSP00000403474.2:n.1289+283_1289+285delinsCTT
ENST00000426415.5:c.1068+1114_1068+1116delinsCTT	ENSP00000397143.1:n.1068+1114_1068+1116delinsCTT
ENST00000428317.5:c.1553+283_1553+285delinsCTT	ENSP00000414858.1:n.1553+283_1553+285delinsCTT
ENST00000430554.1:c.1179+657_1179+659delinsCTT	ENSP00000399725.1:n.1179+657_1179+659delinsCTT
ENST00000440755.5:c.1069-713_1069-711delinsCTT	ENSP00000410380.1:n.1069-713_1069-711delinsCTT
ENST00000442452.1:c.*1008+283_*1008+285delinsCTT	ENSP00000415901.1:n.*1008+283_*1008+285delinsCTT
ENST00000454485.5:c.1200+636_1200+638delinsCTT	ENSP00000390004.1:n.1200+636_1200+638delinsCTT
NM_000665.4:c.1553+283_1553+285delinsCTT	NP_000656.1:n.1553+283_1553+285delinsCTT
NM_001282449.1:c.1289+283_1289+285delinsCTT	NP_001269378.1:n.1289+283_1289+285delinsCTT
NM_001302621.1:c.1553+283_1553+285delinsCTT	NP_001289550.1:n.1553+283_1553+285delinsCTT
NM_001302622.1:c.1553+283_1553+285delinsCTT	NP_001289551.1:n.1553+283_1553+285delinsCTT
NM_015831.2:c.1553+283_1553+285delinsCTT	NP_056646.1:n.1553+283_1553+285delinsCTT
XM_006715995.2:c.1553+283_1553+285delinsCTT	XP_006716058.1:n.1553+283_1553+285delinsCTT
XM_011516225.1:c.2051+283_2051+285delinsCTT	XP_011514527.1:n.2051+283_2051+285delinsCTT
XM_011516226.1:c.1787+283_1787+285delinsCTT	XP_011514528.1:n.1787+283_1787+285delinsCTT
XM_011516227.1:c.1553+283_1553+285delinsCTT	XP_011514529.1:n.1553+283_1553+285delinsCTT
XM_011516228.1:c.1553+283_1553+285delinsCTT	XP_011514530.1:n.1553+283_1553+285delinsCTT
XM_011516229.1:c.1553+283_1553+285delinsCTT	XP_011514531.1:n.1553+283_1553+285delinsCTT
XR_927464.1:n.1924+283_1924+285delinsCTT
XR_927465.1:n.1615-713_1615-711delinsCTT
XM_011516225.2:c.2051+283_2051+285delinsCTT	XP_011514527.1:n.2051+283_2051+285delinsCTT
XM_011516226.2:c.1787+283_1787+285delinsCTT	XP_011514528.1:n.1787+283_1787+285delinsCTT
XM_011516228.2:c.1553+283_1553+285delinsCTT	XP_011514530.1:n.1553+283_1553+285delinsCTT
XM_011516229.2:c.1553+283_1553+285delinsCTT	XP_011514531.1:n.1553+283_1553+285delinsCTT
XM_017012219.2:c.2051+283_2051+285delinsCTT	XP_016867708.1:n.2051+283_2051+285delinsCTT
XM_017012220.2:c.1787+283_1787+285delinsCTT	XP_016867709.1:n.1787+283_1787+285delinsCTT
XM_024446768.1:c.1553+283_1553+285delinsCTT	XP_024302536.1:n.1553+283_1553+285delinsCTT
XM_024446769.1:c.1553+283_1553+285delinsCTT	XP_024302537.1:n.1553+283_1553+285delinsCTT
XM_024446770.1:c.1553+283_1553+285delinsCTT	XP_024302538.1:n.1553+283_1553+285delinsCTT
XR_001744773.2:n.2535-713_2535-711delinsCTT
XR_927464.3:n.2849+283_2849+285delinsCTT
XR_927465.3:n.2535-713_2535-711delinsCTT
NM_000665.5:c.1553+283_1553+285delinsCTT MANE Select	NP_000656.1:n.1553+283_1553+285delinsCTT
NM_001282449.2:c.1289+283_1289+285delinsCTT	NP_001269378.1:n.1289+283_1289+285delinsCTT
NM_001302621.2:c.1553+283_1553+285delinsCTT	NP_001289550.1:n.1553+283_1553+285delinsCTT
NM_001302622.2:c.1553+283_1553+285delinsCTT	NP_001289551.1:n.1553+283_1553+285delinsCTT
NM_001367915.1:c.1553+283_1553+285delinsCTT	NP_001354844.1:n.1553+283_1553+285delinsCTT
NM_001367917.1:c.1553+283_1553+285delinsCTT	NP_001354846.1:n.1553+283_1553+285delinsCTT
NM_001367918.1:c.1754+283_1754+285delinsCTT	NP_001354847.1:n.1754+283_1754+285delinsCTT
NM_001367919.1:c.1751+283_1751+285delinsCTT	NP_001354848.1:n.1751+283_1751+285delinsCTT
NR_160407.1:n.1534-713_1534-711delinsCTT
NR_160408.1:n.1176-713_1176-711delinsCTT
NM_001302621.3:c.1553+283_1553+285delinsCTT	NP_001289550.1:n.1553+283_1553+285delinsCTT
NM_001367919.2:c.1751+283_1751+285delinsCTT	NP_001354848.1:n.1751+283_1751+285delinsCTT
NR_160408.2:n.1176-713_1176-711delinsCTT