Canonical Allele Identifier: CA2695213257

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395899_17395900del , CM000673.2:g.17395899_17395900del	GRCh38
NC_000011.9:g.17417446_17417447del , CM000673.1:g.17417446_17417447del	GRCh37
NC_000011.8:g.17374022_17374023del	NCBI36
NG_008867.1:g.86003_86004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3751_3752del
ENST00000528374.2:c.741_742del
ENST00000529967.6:n.2489_2490del
ENST00000532220.2:n.3383_3384del
ENST00000642611.2:n.5350_5351del
ENST00000644057.2:n.593_594del
ENST00000645004.2:n.1649_1650del
ENST00000682051.1:n.4312_4313del
ENST00000682110.1:n.4365_4366del
ENST00000682140.1:c.4016_4017del	ENSP00000507829.1:p.Glu1339GlyfsTer?
ENST00000682185.1:n.5455_5456del
ENST00000682204.1:c.*2288_*2289del	ENSP00000507094.1:n.*2288_*2289del
ENST00000682215.1:n.4732_4733del
ENST00000682288.1:c.*2581_*2582del	ENSP00000507506.1:n.*2581_*2582del
ENST00000682442.1:n.4585_4586del
ENST00000682528.1:n.4442_4443del
ENST00000682673.1:n.4309_4310del
ENST00000682805.1:n.4770_4771del
ENST00000682965.1:c.*572_*573del	ENSP00000508229.1:n.*572_*573del
ENST00000683093.1:n.5449_5450del
ENST00000683136.1:c.4033_4034del	ENSP00000507768.1:p.Lys1345ValfsTer21
ENST00000683153.1:n.4407_4408del
ENST00000683365.1:n.4467_4468del
ENST00000683377.1:n.4365_4366del
ENST00000683456.1:c.*1287_*1288del	ENSP00000508318.1:n.*1287_*1288del
ENST00000683522.1:n.4365_4366del
ENST00000683562.1:c.*2319_*2320del	ENSP00000508265.1:n.*2319_*2320del
ENST00000683693.1:n.5797_5798del
ENST00000683725.1:c.4150_4151del	ENSP00000507496.1:p.Lys1384ValfsTer21
ENST00000684010.1:n.4360_4361del
ENST00000684157.1:n.5350_5351del
ENST00000684253.1:n.4268_4269del
ENST00000684288.1:c.*2322_*2323del	ENSP00000507143.1:n.*2322_*2323del
ENST00000684313.1:n.3797_3798del
ENST00000684332.1:n.4438_4439del
ENST00000684371.1:n.4471_4472del
ENST00000684404.1:n.5393_5394del
ENST00000684442.1:n.4589_4590del
ENST00000684555.1:c.*2362_*2363del	ENSP00000507705.1:n.*2362_*2363del
ENST00000684571.1:c.3991_3992del	ENSP00000506935.1:p.Lys1331ValfsTer21
ENST00000684593.1:c.*3855_*3856del	ENSP00000507005.1:n.*3855_*3856del
ENST00000684711.1:c.*2546_*2547del	ENSP00000506841.1:n.*2546_*2547del
ENST00000302539.9:c.4153_4154del	ENSP00000303960.4:p.Lys1385ValfsTer21
ENST00000389817.8:c.4150_4151del MANE Select	ENSP00000374467.4:p.Lys1384ValfsTer21
ENST00000642271.1:c.4147_4148del	ENSP00000493749.1:p.Lys1383ValfsTer21
ENST00000642579.1:c.2204_2205del
ENST00000642611.1:n.5235_5236del
ENST00000642902.1:c.3932_3933del
ENST00000643260.1:c.4150_4151del	ENSP00000494450.1:p.Lys1384ValfsTer21
ENST00000643562.1:c.*2272_*2273del	ENSP00000496124.1:n.*2272_*2273del
ENST00000643925.1:c.2790_2791del
ENST00000644057.1:n.227_228del
ENST00000644484.1:c.*3536_*3537del	ENSP00000493558.1:n.*3536_*3537del
ENST00000644675.1:c.*2322_*2323del	ENSP00000494567.1:n.*2322_*2323del
ENST00000644757.1:c.*3202+364_*3202+365del	ENSP00000495085.1:n.*3202+364_*3202+365del
ENST00000644772.1:c.4216_4217del	ENSP00000494321.1:p.Lys1406ValfsTer21
ENST00000645004.1:n.1843_1844del
ENST00000645076.1:c.3349_3350del
ENST00000645417.1:c.1338_1339del
ENST00000645744.1:c.*3915_*3916del	ENSP00000494564.1:n.*3915_*3916del
ENST00000645760.1:c.4571_4572del
ENST00000645884.1:c.*1433_*1434del	ENSP00000495516.1:n.*1433_*1434del
ENST00000646003.1:c.*2252_*2253del	ENSP00000495259.1:n.*2252_*2253del
ENST00000646207.1:c.*2987_*2988del	ENSP00000495025.1:n.*2987_*2988del
ENST00000646276.1:c.*3554_*3555del	ENSP00000496070.1:n.*3554_*3555del
ENST00000646592.1:c.3456_3457del
ENST00000646902.1:c.4117_4118del	ENSP00000494101.1:p.Lys1373ValfsTer21
ENST00000646993.1:c.*2692_*2693del	ENSP00000493720.1:n.*2692_*2693del
ENST00000647013.1:c.4156_4157del	ENSP00000496741.1:n.4156_4157del
ENST00000647015.1:c.3901_3902del	ENSP00000495389.1:p.Lys1301ValfsTer21
ENST00000647086.1:c.*3736_*3737del	ENSP00000493677.1:n.*3736_*3737del
ENST00000647158.1:c.*2437_*2438del	ENSP00000495744.1:n.*2437_*2438del
ENST00000302539.8:c.4153_4154del	ENSP00000303960.4:p.Lys1385ValfsTer21
ENST00000389817.7:c.4150_4151del	ENSP00000374467.3:p.Lys1384ValfsTer21
ENST00000525022.1:n.16_17del
ENST00000526168.5:c.18_19del
NM_000352.4:c.4150_4151del	NP_000343.2:p.Lys1384ValfsTer21
NM_001287174.1:c.4153_4154del	NP_001274103.1:p.Lys1385ValfsTer21
XM_011520331.1:c.4150_4151del	XP_011518633.1:p.Lys1384ValfsTer21
XM_011520332.1:c.4153_4154del	XP_011518634.1:p.Lys1385ValfsTer21
XM_011520333.1:c.2650_2651del	XP_011518635.1:p.Lys884ValfsTer21
XR_930890.1:n.4216_4217del
NM_001351295.1:c.4216_4217del	NP_001338224.1:p.Lys1406ValfsTer21
NM_001351296.1:c.4150_4151del	NP_001338225.1:p.Lys1384ValfsTer21
NM_001351297.1:c.4147_4148del	NP_001338226.1:p.Lys1383ValfsTer21
NR_147094.1:n.4445_4446del
XM_017018197.2:c.4219_4220del	XP_016873686.1:p.Lys1407ValfsTer21
XM_017018199.1:c.4216_4217del	XP_016873688.1:p.Lys1406ValfsTer21
XM_017018201.2:c.4219_4220del	XP_016873690.1:p.Lys1407ValfsTer21
XM_017018202.1:c.2716_2717del	XP_016873691.1:p.Lys906ValfsTer21
XM_017018204.1:c.2107_2108del	XP_016873693.1:p.Lys703ValfsTer21
XM_024448668.1:c.2518_2519del	XP_024304436.1:p.Lys840ValfsTer21
XR_001747945.2:n.4291_4292del
XR_001747946.2:n.4222_4223del
XR_002957189.1:n.5872_5873del
NM_000352.6:c.4150_4151del MANE Select	NP_000343.2:p.Lys1384ValfsTer21
NM_001287174.2:c.4153_4154del	NP_001274103.1:p.Lys1385ValfsTer21
NM_001351295.2:c.4216_4217del	NP_001338224.1:p.Lys1406ValfsTer21
NM_001351296.2:c.4150_4151del	NP_001338225.1:p.Lys1384ValfsTer21
NM_001351297.2:c.4147_4148del	NP_001338226.1:p.Lys1383ValfsTer21
NR_147094.2:n.4445_4446del
NM_001287174.3:c.4153_4154del	NP_001274103.1:p.Lys1385ValfsTer21