Canonical Allele Identifier: CA16041434
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 370647
dbSNP Id: rs1057516655

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17394338del , CM000673.2:g.17394338del GRCh38
NC_000011.9:g.17415885del , CM000673.1:g.17415885del GRCh37
NC_000011.8:g.17372461del NCBI36
NG_008867.1:g.87566del

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.4075del
ENST00000526037.6:n.409del
ENST00000528374.2:c.1065del
ENST00000529967.6:n.2813del
ENST00000532220.2:n.3707del
ENST00000642611.2:n.5807del
ENST00000644057.2:n.1050del
ENST00000645004.2:n.1973del
ENST00000682051.1:n.4636del
ENST00000682110.1:n.4689del
ENST00000682140.1:c.*260del ENSP00000507829.1:n.*260del
ENST00000682185.1:n.5779del
ENST00000682204.1:c.*2612del ENSP00000507094.1:n.*2612del
ENST00000682215.1:n.5056del
ENST00000682288.1:c.*2905del ENSP00000507506.1:n.*2905del
ENST00000682442.1:n.4909del
ENST00000682528.1:n.4766del
ENST00000682673.1:n.4633del
ENST00000682805.1:n.5094del
ENST00000682965.1:c.*896del ENSP00000508229.1:n.*896del
ENST00000683093.1:n.5669del
ENST00000683136.1:c.4357del ENSP00000507768.1:p.Ala1453ProfsTer5
ENST00000683153.1:n.4731del
ENST00000683365.1:n.4791del
ENST00000683377.1:n.4585del
ENST00000683456.1:c.*1611del ENSP00000508318.1:n.*1611del
ENST00000683522.1:n.4771del
ENST00000683562.1:c.*2539del ENSP00000508265.1:n.*2539del
ENST00000683693.1:n.6150del
ENST00000683725.1:c.4370del ENSP00000507496.1:p.Gly1457AlafsTer?
ENST00000684010.1:n.4684del
ENST00000684014.1:n.661del
ENST00000684157.1:n.5674del
ENST00000684253.1:n.4592del
ENST00000684288.1:c.*2646del ENSP00000507143.1:n.*2646del
ENST00000684313.1:n.4121del
ENST00000684332.1:n.4762del
ENST00000684371.1:n.4795del
ENST00000684404.1:n.5717del
ENST00000684442.1:n.4913del
ENST00000684555.1:c.*2686del ENSP00000507705.1:n.*2686del
ENST00000684571.1:c.4315del ENSP00000506935.1:p.Ala1439ProfsTer5
ENST00000684593.1:c.*4179del ENSP00000507005.1:n.*4179del
ENST00000684711.1:c.*2870del ENSP00000506841.1:n.*2870del
ENST00000302539.9:c.4477del ENSP00000303960.4:p.Ala1493ProfsTer5
ENST00000389817.8:c.4474del MANE Select ENSP00000374467.4:p.Ala1492ProfsTer5
ENST00000642271.1:c.4471del ENSP00000493749.1:p.Ala1491ProfsTer5
ENST00000642579.1:c.2528del
ENST00000642611.1:n.5692del
ENST00000642902.1:c.4256del
ENST00000643260.1:c.4474del ENSP00000494450.1:p.Ala1492ProfsTer5
ENST00000643562.1:c.*2596del ENSP00000496124.1:n.*2596del
ENST00000643925.1:c.3114del
ENST00000644057.1:n.633del
ENST00000644484.1:c.*3860del ENSP00000493558.1:n.*3860del
ENST00000644675.1:c.*2646del ENSP00000494567.1:n.*2646del
ENST00000644757.1:c.*3203-1357del ENSP00000495085.1:n.*3203-1357del
ENST00000644772.1:c.4540del ENSP00000494321.1:p.Ala1514ProfsTer5
ENST00000645004.1:n.2167del
ENST00000645076.1:c.3569del
ENST00000645417.1:c.1662del
ENST00000645744.1:c.*4159del ENSP00000494564.1:n.*4159del
ENST00000645760.1:c.4895del
ENST00000645884.1:c.*1757del ENSP00000495516.1:n.*1757del
ENST00000646003.1:c.*2496del ENSP00000495259.1:n.*2496del
ENST00000646207.1:c.*3311del ENSP00000495025.1:n.*3311del
ENST00000646276.1:c.*3878del ENSP00000496070.1:n.*3878del
ENST00000646592.1:c.3780del
ENST00000646902.1:c.4441del ENSP00000494101.1:p.Ala1481ProfsTer5
ENST00000646993.1:c.*2912del ENSP00000493720.1:n.*2912del
ENST00000647013.1:c.4480del ENSP00000496741.1:n.4480del
ENST00000647015.1:c.4225del ENSP00000495389.1:p.Ala1409ProfsTer5
ENST00000647086.1:c.*4060del ENSP00000493677.1:n.*4060del
ENST00000647158.1:c.*2761del ENSP00000495744.1:n.*2761del
ENST00000302539.8:c.4477del ENSP00000303960.4:p.Ala1493ProfsTer5
ENST00000389817.7:c.4474del ENSP00000374467.3:p.Ala1492ProfsTer5
ENST00000525022.1:n.369del
ENST00000526037.5:n.234del
ENST00000526168.5:c.262del
ENST00000531642.5:c.505del
NM_000352.4:c.4474del NP_000343.2:p.Ala1492ProfsTer5
NM_001287174.1:c.4477del NP_001274103.1:p.Ala1493ProfsTer5
XM_011520331.1:c.4474del XP_011518633.1:p.Ala1492ProfsTer5
XM_011520332.1:c.4373del XP_011518634.1:p.Gly1458AlafsTer?
XM_011520333.1:c.2974del XP_011518635.1:p.Ala992ProfsTer5
XR_930890.1:n.4436del
NM_001351295.1:c.4540del NP_001338224.1:p.Ala1514ProfsTer5
NM_001351296.1:c.4474del NP_001338225.1:p.Ala1492ProfsTer5
NM_001351297.1:c.4471del NP_001338226.1:p.Ala1491ProfsTer5
NR_147094.1:n.4769del
XM_017018197.2:c.4543del XP_016873686.1:p.Ala1515ProfsTer5
XM_017018199.1:c.4540del XP_016873688.1:p.Ala1514ProfsTer5
XM_017018201.2:c.4439del XP_016873690.1:p.Gly1480AlafsTer?
XM_017018202.1:c.3040del XP_016873691.1:p.Ala1014ProfsTer5
XM_017018204.1:c.2431del XP_016873693.1:p.Ala811ProfsTer5
XM_024448668.1:c.2842del XP_024304436.1:p.Ala948ProfsTer5
XR_001747945.2:n.4511del
XR_001747946.2:n.4442del
XR_002957189.1:n.6225del
NM_000352.6:c.4474del MANE Select NP_000343.2:p.Ala1492ProfsTer5
NM_001287174.2:c.4477del NP_001274103.1:p.Ala1493ProfsTer5
NM_001351295.2:c.4540del NP_001338224.1:p.Ala1514ProfsTer5
NM_001351296.2:c.4474del NP_001338225.1:p.Ala1492ProfsTer5
NM_001351297.2:c.4471del NP_001338226.1:p.Ala1491ProfsTer5
NR_147094.2:n.4769del
NM_001287174.3:c.4477del NP_001274103.1:p.Ala1493ProfsTer5