Canonical Allele Identifier: CA2612638803
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395678del , CM000673.2:g.17395678del GRCh38
NC_000011.9:g.17417225del , CM000673.1:g.17417225del GRCh37
NC_000011.8:g.17373801del NCBI36
NG_008867.1:g.86225del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3840del
ENST00000528374.2:c.830del
ENST00000529967.6:n.2578del
ENST00000532220.2:n.3472del
ENST00000642611.2:n.5572del
ENST00000644057.2:n.815del
ENST00000645004.2:n.1738del
ENST00000682051.1:n.4401del
ENST00000682110.1:n.4454del
ENST00000682140.1:c.*25del ENSP00000507829.1:n.*25del
ENST00000682185.1:n.5544del
ENST00000682204.1:c.*2377del ENSP00000507094.1:n.*2377del
ENST00000682215.1:n.4821del
ENST00000682288.1:c.*2670del ENSP00000507506.1:n.*2670del
ENST00000682442.1:n.4674del
ENST00000682528.1:n.4531del
ENST00000682673.1:n.4398del
ENST00000682805.1:n.4859del
ENST00000682965.1:c.*661del ENSP00000508229.1:n.*661del
ENST00000683093.1:n.5538del
ENST00000683136.1:c.4122del ENSP00000507768.1:p.Leu1375CysfsTer?
ENST00000683153.1:n.4496del
ENST00000683365.1:n.4556del
ENST00000683377.1:n.4454del
ENST00000683456.1:c.*1376del ENSP00000508318.1:n.*1376del
ENST00000683522.1:n.4454del
ENST00000683562.1:c.*2408del ENSP00000508265.1:n.*2408del
ENST00000683693.1:n.6019del
ENST00000683725.1:c.4239del ENSP00000507496.1:p.Leu1414CysfsTer?
ENST00000684010.1:n.4449del
ENST00000684157.1:n.5439del
ENST00000684253.1:n.4357del
ENST00000684288.1:c.*2411del ENSP00000507143.1:n.*2411del
ENST00000684313.1:n.3886del
ENST00000684332.1:n.4527del
ENST00000684371.1:n.4560del
ENST00000684404.1:n.5482del
ENST00000684442.1:n.4678del
ENST00000684555.1:c.*2451del ENSP00000507705.1:n.*2451del
ENST00000684571.1:c.4080del ENSP00000506935.1:p.Leu1361CysfsTer?
ENST00000684593.1:c.*3944del ENSP00000507005.1:n.*3944del
ENST00000684711.1:c.*2635del ENSP00000506841.1:n.*2635del
ENST00000302539.9:c.4242del ENSP00000303960.4:p.Leu1415CysfsTer?
ENST00000389817.8:c.4239del MANE Select ENSP00000374467.4:p.Leu1414CysfsTer?
ENST00000642271.1:c.4236del ENSP00000493749.1:p.Leu1413CysfsTer?
ENST00000642579.1:c.2293del
ENST00000642611.1:n.5457del
ENST00000642902.1:c.4021del
ENST00000643260.1:c.4239del ENSP00000494450.1:p.Leu1414CysfsTer?
ENST00000643562.1:c.*2361del ENSP00000496124.1:n.*2361del
ENST00000643925.1:c.2879del
ENST00000644057.1:n.316del
ENST00000644484.1:c.*3625del ENSP00000493558.1:n.*3625del
ENST00000644675.1:c.*2411del ENSP00000494567.1:n.*2411del
ENST00000644757.1:c.*3202+586del ENSP00000495085.1:n.*3202+586del
ENST00000644772.1:c.4305del ENSP00000494321.1:p.Leu1436CysfsTer?
ENST00000645004.1:n.1932del
ENST00000645076.1:c.3438del
ENST00000645417.1:c.1427del
ENST00000645744.1:c.*3964-40del ENSP00000494564.1:n.*3964-40del
ENST00000645760.1:c.4660del
ENST00000645884.1:c.*1522del ENSP00000495516.1:n.*1522del
ENST00000646003.1:c.*2301-40del ENSP00000495259.1:n.*2301-40del
ENST00000646207.1:c.*3076del ENSP00000495025.1:n.*3076del
ENST00000646276.1:c.*3643del ENSP00000496070.1:n.*3643del
ENST00000646592.1:c.3545del
ENST00000646902.1:c.4206del ENSP00000494101.1:p.Leu1403CysfsTer?
ENST00000646993.1:c.*2781del ENSP00000493720.1:n.*2781del
ENST00000647013.1:c.4245del ENSP00000496741.1:n.4245del
ENST00000647015.1:c.3990del ENSP00000495389.1:p.Leu1331CysfsTer?
ENST00000647086.1:c.*3825del ENSP00000493677.1:n.*3825del
ENST00000647158.1:c.*2526del ENSP00000495744.1:n.*2526del
ENST00000302539.8:c.4242del ENSP00000303960.4:p.Leu1415CysfsTer?
ENST00000389817.7:c.4239del ENSP00000374467.3:p.Leu1414CysfsTer?
ENST00000525022.1:n.238del
ENST00000526037.5:n.103del
ENST00000526168.5:c.67-40del
ENST00000531642.5:c.75del
NM_000352.4:c.4239del NP_000343.2:p.Leu1414CysfsTer?
NM_001287174.1:c.4242del NP_001274103.1:p.Leu1415CysfsTer?
XM_011520331.1:c.4239del XP_011518633.1:p.Leu1414CysfsTer?
XM_011520332.1:c.4242del XP_011518634.1:p.Leu1415CysfsTer?
XM_011520333.1:c.2739del XP_011518635.1:p.Leu914CysfsTer?
XR_930890.1:n.4305del
NM_001351295.1:c.4305del NP_001338224.1:p.Leu1436CysfsTer?
NM_001351296.1:c.4239del NP_001338225.1:p.Leu1414CysfsTer?
NM_001351297.1:c.4236del NP_001338226.1:p.Leu1413CysfsTer?
NR_147094.1:n.4534del
XM_017018197.2:c.4308del XP_016873686.1:p.Leu1437CysfsTer?
XM_017018199.1:c.4305del XP_016873688.1:p.Leu1436CysfsTer?
XM_017018201.2:c.4308del XP_016873690.1:p.Leu1437CysfsTer?
XM_017018202.1:c.2805del XP_016873691.1:p.Leu936CysfsTer?
XM_017018204.1:c.2196del XP_016873693.1:p.Leu733CysfsTer?
XM_024448668.1:c.2607del XP_024304436.1:p.Leu870CysfsTer?
XR_001747945.2:n.4380del
XR_001747946.2:n.4311del
XR_002957189.1:n.6094del
NM_000352.6:c.4239del MANE Select NP_000343.2:p.Leu1414CysfsTer?
NM_001287174.2:c.4242del NP_001274103.1:p.Leu1415CysfsTer?
NM_001351295.2:c.4305del NP_001338224.1:p.Leu1436CysfsTer?
NM_001351296.2:c.4239del NP_001338225.1:p.Leu1414CysfsTer?
NM_001351297.2:c.4236del NP_001338226.1:p.Leu1413CysfsTer?
NR_147094.2:n.4534del
NM_001287174.3:c.4242del NP_001274103.1:p.Leu1415CysfsTer?