Canonical Allele Identifier: CA2612638922

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395705-AATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395712_17395714del , CM000673.2:g.17395712_17395714del	GRCh38
NC_000011.9:g.17417259_17417261del , CM000673.1:g.17417259_17417261del	GRCh37
NC_000011.8:g.17373835_17373837del	NCBI36
NG_008867.1:g.86195_86197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3810_3812del
ENST00000528374.2:c.800_802del
ENST00000529967.6:n.2548_2550del
ENST00000532220.2:n.3442_3444del
ENST00000642611.2:n.5542_5544del
ENST00000644057.2:n.785_787del
ENST00000645004.2:n.1708_1710del
ENST00000682051.1:n.4371_4373del
ENST00000682110.1:n.4424_4426del
ENST00000682140.1:c.4075_4077del	ENSP00000507829.1:p.His1359del
ENST00000682185.1:n.5514_5516del
ENST00000682204.1:c.*2347_*2349del	ENSP00000507094.1:n.*2347_*2349del
ENST00000682215.1:n.4791_4793del
ENST00000682288.1:c.*2640_*2642del	ENSP00000507506.1:n.*2640_*2642del
ENST00000682442.1:n.4644_4646del
ENST00000682528.1:n.4501_4503del
ENST00000682673.1:n.4368_4370del
ENST00000682805.1:n.4829_4831del
ENST00000682965.1:c.*631_*633del	ENSP00000508229.1:n.*631_*633del
ENST00000683093.1:n.5508_5510del
ENST00000683136.1:c.4092_4094del	ENSP00000507768.1:p.Ile1365del
ENST00000683153.1:n.4466_4468del
ENST00000683365.1:n.4526_4528del
ENST00000683377.1:n.4424_4426del
ENST00000683456.1:c.*1346_*1348del	ENSP00000508318.1:n.*1346_*1348del
ENST00000683522.1:n.4424_4426del
ENST00000683562.1:c.*2378_*2380del	ENSP00000508265.1:n.*2378_*2380del
ENST00000683693.1:n.5989_5991del
ENST00000683725.1:c.4209_4211del	ENSP00000507496.1:p.Ile1404del
ENST00000684010.1:n.4419_4421del
ENST00000684157.1:n.5409_5411del
ENST00000684253.1:n.4327_4329del
ENST00000684288.1:c.*2381_*2383del	ENSP00000507143.1:n.*2381_*2383del
ENST00000684313.1:n.3856_3858del
ENST00000684332.1:n.4497_4499del
ENST00000684371.1:n.4530_4532del
ENST00000684404.1:n.5452_5454del
ENST00000684442.1:n.4648_4650del
ENST00000684555.1:c.*2421_*2423del	ENSP00000507705.1:n.*2421_*2423del
ENST00000684571.1:c.4050_4052del	ENSP00000506935.1:p.Ile1351del
ENST00000684593.1:c.*3914_*3916del	ENSP00000507005.1:n.*3914_*3916del
ENST00000684711.1:c.*2605_*2607del	ENSP00000506841.1:n.*2605_*2607del
ENST00000302539.9:c.4212_4214del	ENSP00000303960.4:p.Ile1405del
ENST00000389817.8:c.4209_4211del MANE Select	ENSP00000374467.4:p.Ile1404del
ENST00000642271.1:c.4206_4208del	ENSP00000493749.1:p.Ile1403del
ENST00000642579.1:c.2263_2265del
ENST00000642611.1:n.5427_5429del
ENST00000642902.1:c.3991_3993del
ENST00000643260.1:c.4209_4211del	ENSP00000494450.1:p.Ile1404del
ENST00000643562.1:c.*2331_*2333del	ENSP00000496124.1:n.*2331_*2333del
ENST00000643925.1:c.2849_2851del
ENST00000644057.1:n.286_288del
ENST00000644484.1:c.*3595_*3597del	ENSP00000493558.1:n.*3595_*3597del
ENST00000644675.1:c.*2381_*2383del	ENSP00000494567.1:n.*2381_*2383del
ENST00000644757.1:c.*3202+556_*3202+558del	ENSP00000495085.1:n.*3202+556_*3202+558del
ENST00000644772.1:c.4275_4277del	ENSP00000494321.1:p.Ile1426del
ENST00000645004.1:n.1902_1904del
ENST00000645076.1:c.3408_3410del
ENST00000645417.1:c.1397_1399del
ENST00000645744.1:c.*3964-70_*3964-68del	ENSP00000494564.1:n.*3964-70_*3964-68del
ENST00000645760.1:c.4630_4632del
ENST00000645884.1:c.*1492_*1494del	ENSP00000495516.1:n.*1492_*1494del
ENST00000646003.1:c.*2301-70_*2301-68del	ENSP00000495259.1:n.*2301-70_*2301-68del
ENST00000646207.1:c.*3046_*3048del	ENSP00000495025.1:n.*3046_*3048del
ENST00000646276.1:c.*3613_*3615del	ENSP00000496070.1:n.*3613_*3615del
ENST00000646592.1:c.3515_3517del
ENST00000646902.1:c.4176_4178del	ENSP00000494101.1:p.Ile1393del
ENST00000646993.1:c.*2751_*2753del	ENSP00000493720.1:n.*2751_*2753del
ENST00000647013.1:c.4215_4217del	ENSP00000496741.1:n.4215_4217del
ENST00000647015.1:c.3960_3962del	ENSP00000495389.1:p.Ile1321del
ENST00000647086.1:c.*3795_*3797del	ENSP00000493677.1:n.*3795_*3797del
ENST00000647158.1:c.*2496_*2498del	ENSP00000495744.1:n.*2496_*2498del
ENST00000302539.8:c.4212_4214del	ENSP00000303960.4:p.Ile1405del
ENST00000389817.7:c.4209_4211del	ENSP00000374467.3:p.Ile1404del
ENST00000525022.1:n.208_210del
ENST00000526037.5:n.73_75del
ENST00000526168.5:c.67-70_67-68del
ENST00000531642.5:c.45_47del
NM_000352.4:c.4209_4211del	NP_000343.2:p.Ile1404del
NM_001287174.1:c.4212_4214del	NP_001274103.1:p.Ile1405del
XM_011520331.1:c.4209_4211del	XP_011518633.1:p.Ile1404del
XM_011520332.1:c.4212_4214del	XP_011518634.1:p.Ile1405del
XM_011520333.1:c.2709_2711del	XP_011518635.1:p.Ile904del
XR_930890.1:n.4275_4277del
NM_001351295.1:c.4275_4277del	NP_001338224.1:p.Ile1426del
NM_001351296.1:c.4209_4211del	NP_001338225.1:p.Ile1404del
NM_001351297.1:c.4206_4208del	NP_001338226.1:p.Ile1403del
NR_147094.1:n.4504_4506del
XM_017018197.2:c.4278_4280del	XP_016873686.1:p.Ile1427del
XM_017018199.1:c.4275_4277del	XP_016873688.1:p.Ile1426del
XM_017018201.2:c.4278_4280del	XP_016873690.1:p.Ile1427del
XM_017018202.1:c.2775_2777del	XP_016873691.1:p.Ile926del
XM_017018204.1:c.2166_2168del	XP_016873693.1:p.Ile723del
XM_024448668.1:c.2577_2579del	XP_024304436.1:p.Ile860del
XR_001747945.2:n.4350_4352del
XR_001747946.2:n.4281_4283del
XR_002957189.1:n.6064_6066del
NM_000352.6:c.4209_4211del MANE Select	NP_000343.2:p.Ile1404del
NM_001287174.2:c.4212_4214del	NP_001274103.1:p.Ile1405del
NM_001351295.2:c.4275_4277del	NP_001338224.1:p.Ile1426del
NM_001351296.2:c.4209_4211del	NP_001338225.1:p.Ile1404del
NM_001351297.2:c.4206_4208del	NP_001338226.1:p.Ile1403del
NR_147094.2:n.4504_4506del
NM_001287174.3:c.4212_4214del	NP_001274103.1:p.Ile1405del