Canonical Allele Identifier: CA1105081761

Gene: ACHE

Linked Data

• dbSNP Id: rs1790731743
• gnomAD v3: 7-100892053-G-GT
• gnomAD v4: 7-100892053-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100892053_100892054insT , CM000669.2:g.100892053_100892054insT	GRCh38
NC_000007.13:g.100489674_100489675insT , CM000669.1:g.100489674_100489675insT	GRCh37
NC_000007.12:g.100327610_100327611insT	NCBI36
NG_007474.1:g.8867_8868insA
NG_007474.2:g.9080_9081insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241069.11:c.1553+280_1553+281insA MANE Select	ENSP00000241069.5:n.1553+280_1553+281insA
ENST00000411582.4:c.1553+280_1553+281insA	ENSP00000404865.1:n.1553+280_1553+281insA
ENST00000428317.7:c.1553+280_1553+281insA	ENSP00000414858.1:n.1553+280_1553+281insA
ENST00000651875.1:n.1996+280_1996+281insA
ENST00000241069.9:c.1553+280_1553+281insA	ENSP00000241069.5:n.1553+280_1553+281insA
ENST00000302913.8:c.1553+280_1553+281insA	ENSP00000303211.4:n.1553+280_1553+281insA
ENST00000411582.1:c.1553+280_1553+281insA	ENSP00000404865.1:n.1553+280_1553+281insA
ENST00000412389.5:c.1553+280_1553+281insA	ENSP00000394976.1:n.1553+280_1553+281insA
ENST00000419336.6:c.1289+280_1289+281insA	ENSP00000403474.2:n.1289+280_1289+281insA
ENST00000426415.5:c.1068+1111_1068+1112insA	ENSP00000397143.1:n.1068+1111_1068+1112insA
ENST00000428317.5:c.1553+280_1553+281insA	ENSP00000414858.1:n.1553+280_1553+281insA
ENST00000430554.1:c.1179+654_1179+655insA	ENSP00000399725.1:n.1179+654_1179+655insA
ENST00000440755.5:c.1069-716_1069-715insA	ENSP00000410380.1:n.1069-716_1069-715insA
ENST00000442452.1:c.*1008+280_*1008+281insA	ENSP00000415901.1:n.*1008+280_*1008+281insA
ENST00000454485.5:c.1200+633_1200+634insA	ENSP00000390004.1:n.1200+633_1200+634insA
NM_000665.4:c.1553+280_1553+281insA	NP_000656.1:n.1553+280_1553+281insA
NM_001282449.1:c.1289+280_1289+281insA	NP_001269378.1:n.1289+280_1289+281insA
NM_001302621.1:c.1553+280_1553+281insA	NP_001289550.1:n.1553+280_1553+281insA
NM_001302622.1:c.1553+280_1553+281insA	NP_001289551.1:n.1553+280_1553+281insA
NM_015831.2:c.1553+280_1553+281insA	NP_056646.1:n.1553+280_1553+281insA
XM_006715995.2:c.1553+280_1553+281insA	XP_006716058.1:n.1553+280_1553+281insA
XM_011516225.1:c.2051+280_2051+281insA	XP_011514527.1:n.2051+280_2051+281insA
XM_011516226.1:c.1787+280_1787+281insA	XP_011514528.1:n.1787+280_1787+281insA
XM_011516227.1:c.1553+280_1553+281insA	XP_011514529.1:n.1553+280_1553+281insA
XM_011516228.1:c.1553+280_1553+281insA	XP_011514530.1:n.1553+280_1553+281insA
XM_011516229.1:c.1553+280_1553+281insA	XP_011514531.1:n.1553+280_1553+281insA
XR_927464.1:n.1924+280_1924+281insA
XR_927465.1:n.1615-716_1615-715insA
XM_011516225.2:c.2051+280_2051+281insA	XP_011514527.1:n.2051+280_2051+281insA
XM_011516226.2:c.1787+280_1787+281insA	XP_011514528.1:n.1787+280_1787+281insA
XM_011516228.2:c.1553+280_1553+281insA	XP_011514530.1:n.1553+280_1553+281insA
XM_011516229.2:c.1553+280_1553+281insA	XP_011514531.1:n.1553+280_1553+281insA
XM_017012219.2:c.2051+280_2051+281insA	XP_016867708.1:n.2051+280_2051+281insA
XM_017012220.2:c.1787+280_1787+281insA	XP_016867709.1:n.1787+280_1787+281insA
XM_024446768.1:c.1553+280_1553+281insA	XP_024302536.1:n.1553+280_1553+281insA
XM_024446769.1:c.1553+280_1553+281insA	XP_024302537.1:n.1553+280_1553+281insA
XM_024446770.1:c.1553+280_1553+281insA	XP_024302538.1:n.1553+280_1553+281insA
XR_001744773.2:n.2535-716_2535-715insA
XR_927464.3:n.2849+280_2849+281insA
XR_927465.3:n.2535-716_2535-715insA
NM_000665.5:c.1553+280_1553+281insA MANE Select	NP_000656.1:n.1553+280_1553+281insA
NM_001282449.2:c.1289+280_1289+281insA	NP_001269378.1:n.1289+280_1289+281insA
NM_001302621.2:c.1553+280_1553+281insA	NP_001289550.1:n.1553+280_1553+281insA
NM_001302622.2:c.1553+280_1553+281insA	NP_001289551.1:n.1553+280_1553+281insA
NM_001367915.1:c.1553+280_1553+281insA	NP_001354844.1:n.1553+280_1553+281insA
NM_001367917.1:c.1553+280_1553+281insA	NP_001354846.1:n.1553+280_1553+281insA
NM_001367918.1:c.1754+280_1754+281insA	NP_001354847.1:n.1754+280_1754+281insA
NM_001367919.1:c.1751+280_1751+281insA	NP_001354848.1:n.1751+280_1751+281insA
NR_160407.1:n.1534-716_1534-715insA
NR_160408.1:n.1176-716_1176-715insA
NM_001302621.3:c.1553+280_1553+281insA	NP_001289550.1:n.1553+280_1553+281insA
NM_001367919.2:c.1751+280_1751+281insA	NP_001354848.1:n.1751+280_1751+281insA
NR_160408.2:n.1176-716_1176-715insA