Canonical Allele Identifier: CA2612638731
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2755723
ClinVar RCV Id: RCV003571445

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395645del , CM000673.2:g.17395645del GRCh38
NC_000011.9:g.17417192del , CM000673.1:g.17417192del GRCh37
NC_000011.8:g.17373768del NCBI36
NG_008867.1:g.86259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3874del
ENST00000528374.2:c.864del
ENST00000529967.6:n.2612del
ENST00000532220.2:n.3506del
ENST00000642611.2:n.5606del
ENST00000644057.2:n.849del
ENST00000645004.2:n.1772del
ENST00000682051.1:n.4435del
ENST00000682110.1:n.4488del
ENST00000682140.1:c.*59del ENSP00000507829.1:n.*59del
ENST00000682185.1:n.5578del
ENST00000682204.1:c.*2411del ENSP00000507094.1:n.*2411del
ENST00000682215.1:n.4855del
ENST00000682288.1:c.*2704del ENSP00000507506.1:n.*2704del
ENST00000682442.1:n.4708del
ENST00000682528.1:n.4565del
ENST00000682673.1:n.4432del
ENST00000682805.1:n.4893del
ENST00000682965.1:c.*695del ENSP00000508229.1:n.*695del
ENST00000683093.1:n.5572del
ENST00000683136.1:c.4156del ENSP00000507768.1:p.Leu1386CysfsTer?
ENST00000683153.1:n.4530del
ENST00000683365.1:n.4590del
ENST00000683377.1:n.4488del
ENST00000683456.1:c.*1410del ENSP00000508318.1:n.*1410del
ENST00000683522.1:n.4488del
ENST00000683562.1:c.*2442del ENSP00000508265.1:n.*2442del
ENST00000683693.1:n.6053del
ENST00000683725.1:c.4273del ENSP00000507496.1:p.Leu1425CysfsTer?
ENST00000684010.1:n.4483del
ENST00000684157.1:n.5473del
ENST00000684253.1:n.4391del
ENST00000684288.1:c.*2445del ENSP00000507143.1:n.*2445del
ENST00000684313.1:n.3920del
ENST00000684332.1:n.4561del
ENST00000684371.1:n.4594del
ENST00000684404.1:n.5516del
ENST00000684442.1:n.4712del
ENST00000684555.1:c.*2485del ENSP00000507705.1:n.*2485del
ENST00000684571.1:c.4114del ENSP00000506935.1:p.Leu1372CysfsTer?
ENST00000684593.1:c.*3978del ENSP00000507005.1:n.*3978del
ENST00000684711.1:c.*2669del ENSP00000506841.1:n.*2669del
ENST00000302539.9:c.4276del ENSP00000303960.4:p.Leu1426CysfsTer?
ENST00000389817.8:c.4273del MANE Select ENSP00000374467.4:p.Leu1425CysfsTer?
ENST00000642271.1:c.4270del ENSP00000493749.1:p.Leu1424CysfsTer?
ENST00000642579.1:c.2327del
ENST00000642611.1:n.5491del
ENST00000642902.1:c.4055del
ENST00000643260.1:c.4273del ENSP00000494450.1:p.Leu1425CysfsTer?
ENST00000643562.1:c.*2395del ENSP00000496124.1:n.*2395del
ENST00000643925.1:c.2913del
ENST00000644057.1:n.350del
ENST00000644484.1:c.*3659del ENSP00000493558.1:n.*3659del
ENST00000644675.1:c.*2445del ENSP00000494567.1:n.*2445del
ENST00000644757.1:c.*3202+620del ENSP00000495085.1:n.*3202+620del
ENST00000644772.1:c.4339del ENSP00000494321.1:p.Leu1447CysfsTer?
ENST00000645004.1:n.1966del
ENST00000645076.1:c.3472del
ENST00000645417.1:c.1461del
ENST00000645744.1:c.*3964-6del ENSP00000494564.1:n.*3964-6del
ENST00000645760.1:c.4694del
ENST00000645884.1:c.*1556del ENSP00000495516.1:n.*1556del
ENST00000646003.1:c.*2301-6del ENSP00000495259.1:n.*2301-6del
ENST00000646207.1:c.*3110del ENSP00000495025.1:n.*3110del
ENST00000646276.1:c.*3677del ENSP00000496070.1:n.*3677del
ENST00000646592.1:c.3579del
ENST00000646902.1:c.4240del ENSP00000494101.1:p.Leu1414CysfsTer?
ENST00000646993.1:c.*2815del ENSP00000493720.1:n.*2815del
ENST00000647013.1:c.4279del ENSP00000496741.1:n.4279del
ENST00000647015.1:c.4024del ENSP00000495389.1:p.Leu1342CysfsTer?
ENST00000647086.1:c.*3859del ENSP00000493677.1:n.*3859del
ENST00000647158.1:c.*2560del ENSP00000495744.1:n.*2560del
ENST00000302539.8:c.4276del ENSP00000303960.4:p.Leu1426CysfsTer?
ENST00000389817.7:c.4273del ENSP00000374467.3:p.Leu1425CysfsTer?
ENST00000525022.1:n.272del
ENST00000526037.5:n.137del
ENST00000526168.5:c.67-6del
ENST00000531642.5:c.109del
NM_000352.4:c.4273del NP_000343.2:p.Leu1425CysfsTer?
NM_001287174.1:c.4276del NP_001274103.1:p.Leu1426CysfsTer?
XM_011520331.1:c.4273del XP_011518633.1:p.Leu1425CysfsTer?
XM_011520332.1:c.4276del XP_011518634.1:p.Leu1426CysfsTer?
XM_011520333.1:c.2773del XP_011518635.1:p.Leu925CysfsTer?
XR_930890.1:n.4339del
NM_001351295.1:c.4339del NP_001338224.1:p.Leu1447CysfsTer?
NM_001351296.1:c.4273del NP_001338225.1:p.Leu1425CysfsTer?
NM_001351297.1:c.4270del NP_001338226.1:p.Leu1424CysfsTer?
NR_147094.1:n.4568del
XM_017018197.2:c.4342del XP_016873686.1:p.Leu1448CysfsTer?
XM_017018199.1:c.4339del XP_016873688.1:p.Leu1447CysfsTer?
XM_017018201.2:c.4342del XP_016873690.1:p.Leu1448CysfsTer?
XM_017018202.1:c.2839del XP_016873691.1:p.Leu947CysfsTer?
XM_017018204.1:c.2230del XP_016873693.1:p.Leu744CysfsTer?
XM_024448668.1:c.2641del XP_024304436.1:p.Leu881CysfsTer?
XR_001747945.2:n.4414del
XR_001747946.2:n.4345del
XR_002957189.1:n.6128del
NM_000352.6:c.4273del MANE Select NP_000343.2:p.Leu1425CysfsTer?
NM_001287174.2:c.4276del NP_001274103.1:p.Leu1426CysfsTer?
NM_001351295.2:c.4339del NP_001338224.1:p.Leu1447CysfsTer?
NM_001351296.2:c.4273del NP_001338225.1:p.Leu1425CysfsTer?
NM_001351297.2:c.4270del NP_001338226.1:p.Leu1424CysfsTer?
NR_147094.2:n.4568del
NM_001287174.3:c.4276del NP_001274103.1:p.Leu1426CysfsTer?