Canonical Allele Identifier: CA1729548314

Gene: ACHE

Linked Data

• dbSNP Id: rs921500516

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100892004_100892017dup , CM000669.2:g.100892004_100892017dup	GRCh38
NC_000007.13:g.100489625_100489638dup , CM000669.1:g.100489625_100489638dup	GRCh37
NC_000007.12:g.100327561_100327574dup	NCBI36
NG_007474.1:g.8908_8921dup
NG_007474.2:g.9121_9134dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241069.11:c.1553+321_1553+334dup MANE Select	ENSP00000241069.5:n.1553+321_1553+334dup
ENST00000411582.4:c.1553+321_1553+334dup	ENSP00000404865.1:n.1553+321_1553+334dup
ENST00000428317.7:c.1553+321_1553+334dup	ENSP00000414858.1:n.1553+321_1553+334dup
ENST00000651875.1:n.1996+321_1996+334dup
ENST00000241069.9:c.1553+321_1553+334dup	ENSP00000241069.5:n.1553+321_1553+334dup
ENST00000302913.8:c.1553+321_1553+334dup	ENSP00000303211.4:n.1553+321_1553+334dup
ENST00000411582.1:c.1553+321_1553+334dup	ENSP00000404865.1:n.1553+321_1553+334dup
ENST00000412389.5:c.1553+321_1553+334dup	ENSP00000394976.1:n.1553+321_1553+334dup
ENST00000419336.6:c.1289+321_1289+334dup	ENSP00000403474.2:n.1289+321_1289+334dup
ENST00000426415.5:c.1068+1152_1068+1165dup	ENSP00000397143.1:n.1068+1152_1068+1165dup
ENST00000428317.5:c.1553+321_1553+334dup	ENSP00000414858.1:n.1553+321_1553+334dup
ENST00000430554.1:c.1179+695_1179+708dup	ENSP00000399725.1:n.1179+695_1179+708dup
ENST00000440755.5:c.1069-675_1069-662dup	ENSP00000410380.1:n.1069-675_1069-662dup
ENST00000442452.1:c.*1008+321_*1008+334dup	ENSP00000415901.1:n.*1008+321_*1008+334dup
ENST00000454485.5:c.1201-675_1201-662dup	ENSP00000390004.1:n.1201-675_1201-662dup
NM_000665.4:c.1553+321_1553+334dup	NP_000656.1:n.1553+321_1553+334dup
NM_001282449.1:c.1289+321_1289+334dup	NP_001269378.1:n.1289+321_1289+334dup
NM_001302621.1:c.1553+321_1553+334dup	NP_001289550.1:n.1553+321_1553+334dup
NM_001302622.1:c.1553+321_1553+334dup	NP_001289551.1:n.1553+321_1553+334dup
NM_015831.2:c.1553+321_1553+334dup	NP_056646.1:n.1553+321_1553+334dup
XM_006715995.2:c.1553+321_1553+334dup	XP_006716058.1:n.1553+321_1553+334dup
XM_011516225.1:c.2051+321_2051+334dup	XP_011514527.1:n.2051+321_2051+334dup
XM_011516226.1:c.1787+321_1787+334dup	XP_011514528.1:n.1787+321_1787+334dup
XM_011516227.1:c.1553+321_1553+334dup	XP_011514529.1:n.1553+321_1553+334dup
XM_011516228.1:c.1553+321_1553+334dup	XP_011514530.1:n.1553+321_1553+334dup
XM_011516229.1:c.1553+321_1553+334dup	XP_011514531.1:n.1553+321_1553+334dup
XR_927464.1:n.1924+321_1924+334dup
XR_927465.1:n.1615-675_1615-662dup
XM_011516225.2:c.2051+321_2051+334dup	XP_011514527.1:n.2051+321_2051+334dup
XM_011516226.2:c.1787+321_1787+334dup	XP_011514528.1:n.1787+321_1787+334dup
XM_011516228.2:c.1553+321_1553+334dup	XP_011514530.1:n.1553+321_1553+334dup
XM_011516229.2:c.1553+321_1553+334dup	XP_011514531.1:n.1553+321_1553+334dup
XM_017012219.2:c.2051+321_2051+334dup	XP_016867708.1:n.2051+321_2051+334dup
XM_017012220.2:c.1787+321_1787+334dup	XP_016867709.1:n.1787+321_1787+334dup
XM_024446768.1:c.1553+321_1553+334dup	XP_024302536.1:n.1553+321_1553+334dup
XM_024446769.1:c.1553+321_1553+334dup	XP_024302537.1:n.1553+321_1553+334dup
XM_024446770.1:c.1553+321_1553+334dup	XP_024302538.1:n.1553+321_1553+334dup
XR_001744773.2:n.2535-675_2535-662dup
XR_927464.3:n.2849+321_2849+334dup
XR_927465.3:n.2535-675_2535-662dup
NM_000665.5:c.1553+321_1553+334dup MANE Select	NP_000656.1:n.1553+321_1553+334dup
NM_001282449.2:c.1289+321_1289+334dup	NP_001269378.1:n.1289+321_1289+334dup
NM_001302621.2:c.1553+321_1553+334dup	NP_001289550.1:n.1553+321_1553+334dup
NM_001302622.2:c.1553+321_1553+334dup	NP_001289551.1:n.1553+321_1553+334dup
NM_001367915.1:c.1553+321_1553+334dup	NP_001354844.1:n.1553+321_1553+334dup
NM_001367917.1:c.1553+321_1553+334dup	NP_001354846.1:n.1553+321_1553+334dup
NM_001367918.1:c.1754+321_1754+334dup	NP_001354847.1:n.1754+321_1754+334dup
NM_001367919.1:c.1751+321_1751+334dup	NP_001354848.1:n.1751+321_1751+334dup
NR_160407.1:n.1534-675_1534-662dup
NR_160408.1:n.1176-675_1176-662dup
NM_001302621.3:c.1553+321_1553+334dup	NP_001289550.1:n.1553+321_1553+334dup
NM_001367919.2:c.1751+321_1751+334dup	NP_001354848.1:n.1751+321_1751+334dup
NR_160408.2:n.1176-675_1176-662dup