Canonical Allele Identifier: CA2695213251
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395715_17395726del , CM000673.2:g.17395715_17395726del GRCh38
NC_000011.9:g.17417262_17417273del , CM000673.1:g.17417262_17417273del GRCh37
NC_000011.8:g.17373838_17373849del NCBI36
NG_008867.1:g.86178_86189del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3800-7_3804del
ENST00000528374.2:c.790-7_794del
ENST00000529967.6:n.2538-7_2542del
ENST00000532220.2:n.3432-7_3436del
ENST00000642611.2:n.5525_5536del
ENST00000644057.2:n.768_779del
ENST00000645004.2:n.1698-7_1702del
ENST00000682051.1:n.4361-7_4365del
ENST00000682110.1:n.4414-7_4418del
ENST00000682140.1:c.4065-7_4069del
ENST00000682185.1:n.5504-7_5508del
ENST00000682204.1:c.*2337-7_*2341del
ENST00000682215.1:n.4781-7_4785del
ENST00000682288.1:c.*2630-7_*2634del
ENST00000682442.1:n.4634-7_4638del
ENST00000682528.1:n.4491-7_4495del
ENST00000682673.1:n.4358-7_4362del
ENST00000682805.1:n.4819-7_4823del
ENST00000682965.1:c.*621-7_*625del
ENST00000683093.1:n.5498-7_5502del
ENST00000683136.1:c.4082-7_4086del
ENST00000683153.1:n.4456-7_4460del
ENST00000683365.1:n.4516-7_4520del
ENST00000683377.1:n.4414-7_4418del
ENST00000683456.1:c.*1336-7_*1340del
ENST00000683522.1:n.4414-7_4418del
ENST00000683562.1:c.*2368-7_*2372del
ENST00000683693.1:n.5972_5983del
ENST00000683725.1:c.4199-7_4203del
ENST00000684010.1:n.4409-7_4413del
ENST00000684157.1:n.5399-7_5403del
ENST00000684253.1:n.4317-7_4321del
ENST00000684288.1:c.*2371-7_*2375del
ENST00000684313.1:n.3846-7_3850del
ENST00000684332.1:n.4487-7_4491del
ENST00000684371.1:n.4520-7_4524del
ENST00000684404.1:n.5442-7_5446del
ENST00000684442.1:n.4638-7_4642del
ENST00000684555.1:c.*2411-7_*2415del
ENST00000684571.1:c.4040-7_4044del
ENST00000684593.1:c.*3904-7_*3908del
ENST00000684711.1:c.*2595-7_*2599del
ENST00000302539.9:c.4202-7_4206del
ENST00000389817.8:c.4199-7_4203del
ENST00000642271.1:c.4196-7_4200del
ENST00000642579.1:c.2253-7_2257del
ENST00000642611.1:n.5410_5421del
ENST00000642902.1:c.3981-7_3985del
ENST00000643260.1:c.4199-7_4203del
ENST00000643562.1:c.*2321-7_*2325del
ENST00000643925.1:c.2839-7_2843del
ENST00000644057.1:n.276-7_280del
ENST00000644484.1:c.*3585-7_*3589del
ENST00000644675.1:c.*2371-7_*2375del
ENST00000644757.1:c.*3202+539_*3202+550del ENSP00000495085.1:n.*3202+539_*3202+550del
ENST00000644772.1:c.4265-7_4269del
ENST00000645004.1:n.1892-7_1896del
ENST00000645076.1:c.3398-7_3402del
ENST00000645417.1:c.1387-7_1391del
ENST00000645744.1:c.*3964-87_*3964-76del ENSP00000494564.1:n.*3964-87_*3964-76del
ENST00000645760.1:c.4620-7_4624del
ENST00000645884.1:c.*1482-7_*1486del
ENST00000646003.1:c.*2301-87_*2301-76del ENSP00000495259.1:n.*2301-87_*2301-76del
ENST00000646207.1:c.*3036-7_*3040del
ENST00000646276.1:c.*3603-7_*3607del
ENST00000646592.1:c.3505-7_3509del
ENST00000646902.1:c.4166-7_4170del
ENST00000646993.1:c.*2741-7_*2745del
ENST00000647013.1:c.4205-7_4209del
ENST00000647015.1:c.3950-7_3954del
ENST00000647086.1:c.*3785-7_*3789del
ENST00000647158.1:c.*2486-7_*2490del
ENST00000302539.8:c.4202-7_4206del
ENST00000389817.7:c.4199-7_4203del
ENST00000525022.1:n.191_202del
ENST00000526037.5:n.56_67del
ENST00000526168.5:c.67-87_67-76del
ENST00000531642.5:c.35-7_39del
NM_000352.4:c.4199-7_4203del
NM_001287174.1:c.4202-7_4206del
XM_011520331.1:c.4199-7_4203del
XM_011520332.1:c.4202-7_4206del
XM_011520333.1:c.2699-7_2703del
XR_930890.1:n.4265-7_4269del
NM_001351295.1:c.4265-7_4269del
NM_001351296.1:c.4199-7_4203del
NM_001351297.1:c.4196-7_4200del
NR_147094.1:n.4494-7_4498del
XM_017018197.2:c.4268-7_4272del
XM_017018199.1:c.4265-7_4269del
XM_017018201.2:c.4268-7_4272del
XM_017018202.1:c.2765-7_2769del
XM_017018204.1:c.2156-7_2160del
XM_024448668.1:c.2567-7_2571del
XR_001747945.2:n.4340-7_4344del
XR_001747946.2:n.4271-7_4275del
XR_002957189.1:n.6047_6058del
NM_000352.6:c.4199-7_4203del
NM_001287174.2:c.4202-7_4206del
NM_001351295.2:c.4265-7_4269del
NM_001351296.2:c.4199-7_4203del
NM_001351297.2:c.4196-7_4200del
NR_147094.2:n.4494-7_4498del
NM_001287174.3:c.4202-7_4206del