Canonical Allele Identifier: CA2612637017
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17394374del , CM000673.2:g.17394374del GRCh38
NC_000011.9:g.17415921del , CM000673.1:g.17415921del GRCh37
NC_000011.8:g.17372497del NCBI36
NG_008867.1:g.87529del

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.4038del
ENST00000526037.6:n.372del
ENST00000528374.2:c.1028del
ENST00000529967.6:n.2776del
ENST00000532220.2:n.3670del
ENST00000642611.2:n.5770del
ENST00000644057.2:n.1013del
ENST00000645004.2:n.1936del
ENST00000682051.1:n.4599del
ENST00000682110.1:n.4652del
ENST00000682140.1:c.*223del ENSP00000507829.1:n.*223del
ENST00000682185.1:n.5742del
ENST00000682204.1:c.*2575del ENSP00000507094.1:n.*2575del
ENST00000682215.1:n.5019del
ENST00000682288.1:c.*2868del ENSP00000507506.1:n.*2868del
ENST00000682442.1:n.4872del
ENST00000682528.1:n.4729del
ENST00000682673.1:n.4596del
ENST00000682805.1:n.5057del
ENST00000682965.1:c.*859del ENSP00000508229.1:n.*859del
ENST00000683093.1:n.5632del
ENST00000683136.1:c.4320del ENSP00000507768.1:p.Asn1441IlefsTer17
ENST00000683153.1:n.4694del
ENST00000683365.1:n.4754del
ENST00000683377.1:n.4548del
ENST00000683456.1:c.*1574del ENSP00000508318.1:n.*1574del
ENST00000683522.1:n.4734del
ENST00000683562.1:c.*2502del ENSP00000508265.1:n.*2502del
ENST00000683693.1:n.6113del
ENST00000683725.1:c.4333del ENSP00000507496.1:p.Glu1445AsnfsTer?
ENST00000684010.1:n.4647del
ENST00000684014.1:n.624del
ENST00000684157.1:n.5637del
ENST00000684253.1:n.4555del
ENST00000684288.1:c.*2609del ENSP00000507143.1:n.*2609del
ENST00000684313.1:n.4084del
ENST00000684332.1:n.4725del
ENST00000684371.1:n.4758del
ENST00000684404.1:n.5680del
ENST00000684442.1:n.4876del
ENST00000684555.1:c.*2649del ENSP00000507705.1:n.*2649del
ENST00000684571.1:c.4278del ENSP00000506935.1:p.Asn1427IlefsTer17
ENST00000684593.1:c.*4142del ENSP00000507005.1:n.*4142del
ENST00000684711.1:c.*2833del ENSP00000506841.1:n.*2833del
ENST00000302539.9:c.4440del ENSP00000303960.4:p.Asn1481IlefsTer17
ENST00000389817.8:c.4437del MANE Select ENSP00000374467.4:p.Asn1480IlefsTer17
ENST00000642271.1:c.4434del ENSP00000493749.1:p.Asn1479IlefsTer17
ENST00000642579.1:c.2491del
ENST00000642611.1:n.5655del
ENST00000642902.1:c.4219del
ENST00000643260.1:c.4437del ENSP00000494450.1:p.Asn1480IlefsTer17
ENST00000643562.1:c.*2559del ENSP00000496124.1:n.*2559del
ENST00000643925.1:c.3077del
ENST00000644057.1:n.596del
ENST00000644484.1:c.*3823del ENSP00000493558.1:n.*3823del
ENST00000644675.1:c.*2609del ENSP00000494567.1:n.*2609del
ENST00000644757.1:c.*3203-1394del ENSP00000495085.1:n.*3203-1394del
ENST00000644772.1:c.4503del ENSP00000494321.1:p.Asn1502IlefsTer17
ENST00000645004.1:n.2130del
ENST00000645076.1:c.3532del
ENST00000645417.1:c.1625del
ENST00000645744.1:c.*4122del ENSP00000494564.1:n.*4122del
ENST00000645760.1:c.4858del
ENST00000645884.1:c.*1720del ENSP00000495516.1:n.*1720del
ENST00000646003.1:c.*2459del ENSP00000495259.1:n.*2459del
ENST00000646207.1:c.*3274del ENSP00000495025.1:n.*3274del
ENST00000646276.1:c.*3841del ENSP00000496070.1:n.*3841del
ENST00000646592.1:c.3743del
ENST00000646902.1:c.4404del ENSP00000494101.1:p.Asn1469IlefsTer17
ENST00000646993.1:c.*2875del ENSP00000493720.1:n.*2875del
ENST00000647013.1:c.4443del ENSP00000496741.1:n.4443del
ENST00000647015.1:c.4188del ENSP00000495389.1:p.Asn1397IlefsTer17
ENST00000647086.1:c.*4023del ENSP00000493677.1:n.*4023del
ENST00000647158.1:c.*2724del ENSP00000495744.1:n.*2724del
ENST00000302539.8:c.4440del ENSP00000303960.4:p.Asn1481IlefsTer17
ENST00000389817.7:c.4437del ENSP00000374467.3:p.Asn1480IlefsTer17
ENST00000525022.1:n.332del
ENST00000526037.5:n.197del
ENST00000526168.5:c.225del
ENST00000531642.5:c.468del
NM_000352.4:c.4437del NP_000343.2:p.Asn1480IlefsTer17
NM_001287174.1:c.4440del NP_001274103.1:p.Asn1481IlefsTer17
XM_011520331.1:c.4437del XP_011518633.1:p.Asn1480IlefsTer17
XM_011520332.1:c.4336del XP_011518634.1:p.Glu1446AsnfsTer?
XM_011520333.1:c.2937del XP_011518635.1:p.Asn980IlefsTer17
XR_930890.1:n.4399del
NM_001351295.1:c.4503del NP_001338224.1:p.Asn1502IlefsTer17
NM_001351296.1:c.4437del NP_001338225.1:p.Asn1480IlefsTer17
NM_001351297.1:c.4434del NP_001338226.1:p.Asn1479IlefsTer17
NR_147094.1:n.4732del
XM_017018197.2:c.4506del XP_016873686.1:p.Asn1503IlefsTer17
XM_017018199.1:c.4503del XP_016873688.1:p.Asn1502IlefsTer17
XM_017018201.2:c.4402del XP_016873690.1:p.Glu1468AsnfsTer?
XM_017018202.1:c.3003del XP_016873691.1:p.Asn1002IlefsTer17
XM_017018204.1:c.2394del XP_016873693.1:p.Asn799IlefsTer17
XM_024448668.1:c.2805del XP_024304436.1:p.Asn936IlefsTer17
XR_001747945.2:n.4474del
XR_001747946.2:n.4405del
XR_002957189.1:n.6188del
NM_000352.6:c.4437del MANE Select NP_000343.2:p.Asn1480IlefsTer17
NM_001287174.2:c.4440del NP_001274103.1:p.Asn1481IlefsTer17
NM_001351295.2:c.4503del NP_001338224.1:p.Asn1502IlefsTer17
NM_001351296.2:c.4437del NP_001338225.1:p.Asn1480IlefsTer17
NM_001351297.2:c.4434del NP_001338226.1:p.Asn1479IlefsTer17
NR_147094.2:n.4732del
NM_001287174.3:c.4440del NP_001274103.1:p.Asn1481IlefsTer17