Canonical Allele Identifier: CA2695213268

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397000del , CM000673.2:g.17397000del	GRCh38
NC_000011.9:g.17418547del , CM000673.1:g.17418547del	GRCh37
NC_000011.8:g.17375123del	NCBI36
NG_008867.1:g.84903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3636del
ENST00000528374.2:c.626del
ENST00000529967.6:n.2374del
ENST00000532220.2:n.2283del
ENST00000642611.2:n.4250del
ENST00000644057.2:n.478del
ENST00000645004.2:n.1534del
ENST00000682051.1:n.4197del
ENST00000682110.1:n.4250del
ENST00000682140.1:c.3985+193del	ENSP00000507829.1:n.3985+193del
ENST00000682185.1:n.5340del
ENST00000682204.1:c.*2173del	ENSP00000507094.1:n.*2173del
ENST00000682215.1:n.4617del
ENST00000682288.1:c.*2466del	ENSP00000507506.1:n.*2466del
ENST00000682442.1:n.4470del
ENST00000682528.1:n.4327del
ENST00000682673.1:n.4194del
ENST00000682805.1:n.4617del
ENST00000682965.1:c.*457del	ENSP00000508229.1:n.*457del
ENST00000683093.1:n.4349del
ENST00000683136.1:c.3918del	ENSP00000507768.1:p.Ile1307SerfsTer4
ENST00000683153.1:n.4292del
ENST00000683365.1:n.4352del
ENST00000683377.1:n.4250del
ENST00000683456.1:c.*1172del	ENSP00000508318.1:n.*1172del
ENST00000683522.1:n.4250del
ENST00000683562.1:c.*2204del	ENSP00000508265.1:n.*2204del
ENST00000683693.1:n.4697del
ENST00000683725.1:c.4035del	ENSP00000507496.1:p.Ile1346SerfsTer4
ENST00000684010.1:n.4245del
ENST00000684157.1:n.4250del
ENST00000684253.1:n.4153del
ENST00000684288.1:c.*2207del	ENSP00000507143.1:n.*2207del
ENST00000684313.1:n.3682del
ENST00000684332.1:n.4323del
ENST00000684371.1:n.4356del
ENST00000684404.1:n.4293del
ENST00000684442.1:n.4474del
ENST00000684555.1:c.*2247del	ENSP00000507705.1:n.*2247del
ENST00000684571.1:c.3876del	ENSP00000506935.1:p.Ile1293SerfsTer4
ENST00000684593.1:c.*3740del	ENSP00000507005.1:n.*3740del
ENST00000684711.1:c.*2431del	ENSP00000506841.1:n.*2431del
ENST00000302539.9:c.4038del	ENSP00000303960.4:p.Ile1347SerfsTer4
ENST00000389817.8:c.4035del MANE Select	ENSP00000374467.4:p.Ile1346SerfsTer4
ENST00000642271.1:c.4032del	ENSP00000493749.1:p.Ile1345SerfsTer4
ENST00000642579.1:c.2089del
ENST00000642611.1:n.4135del
ENST00000642902.1:c.3817del
ENST00000643260.1:c.4035del	ENSP00000494450.1:p.Ile1346SerfsTer4
ENST00000643562.1:c.*2157del	ENSP00000496124.1:n.*2157del
ENST00000643925.1:c.2675del
ENST00000644057.1:n.112del
ENST00000644484.1:c.*2436del	ENSP00000493558.1:n.*2436del
ENST00000644675.1:c.*2207del	ENSP00000494567.1:n.*2207del
ENST00000644757.1:c.*2466del	ENSP00000495085.1:n.*2466del
ENST00000644772.1:c.4101del	ENSP00000494321.1:p.Ile1368SerfsTer4
ENST00000645004.1:n.1690del
ENST00000645076.1:c.3234del
ENST00000645417.1:c.1223del
ENST00000645744.1:c.*2815del	ENSP00000494564.1:n.*2815del
ENST00000645760.1:c.4456del
ENST00000645884.1:c.*1318del	ENSP00000495516.1:n.*1318del
ENST00000646003.1:c.*2137del	ENSP00000495259.1:n.*2137del
ENST00000646207.1:c.*2872del	ENSP00000495025.1:n.*2872del
ENST00000646276.1:c.*2454del	ENSP00000496070.1:n.*2454del
ENST00000646592.1:c.3341del
ENST00000646902.1:c.4002del	ENSP00000494101.1:p.Ile1335SerfsTer4
ENST00000646993.1:c.*2577del	ENSP00000493720.1:n.*2577del
ENST00000647013.1:c.4041del	ENSP00000496741.1:n.4041del
ENST00000647015.1:c.3786del	ENSP00000495389.1:p.Ile1263SerfsTer4
ENST00000647086.1:c.*3621del	ENSP00000493677.1:n.*3621del
ENST00000647158.1:c.*2322del	ENSP00000495744.1:n.*2322del
ENST00000302539.8:c.4038del	ENSP00000303960.4:p.Ile1347SerfsTer4
ENST00000389817.7:c.4035del	ENSP00000374467.3:p.Ile1346SerfsTer4
ENST00000527905.5:c.*1057del	ENSP00000431653.1:n.*1057del
ENST00000528374.1:c.517del
ENST00000531137.1:n.600del
ENST00000531891.1:c.373del
ENST00000532220.1:n.509del
NM_000352.4:c.4035del	NP_000343.2:p.Ile1346SerfsTer4
NM_001287174.1:c.4038del	NP_001274103.1:p.Ile1347SerfsTer4
XM_011520331.1:c.4035del	XP_011518633.1:p.Ile1346SerfsTer4
XM_011520332.1:c.4038del	XP_011518634.1:p.Ile1347SerfsTer4
XM_011520333.1:c.2535del	XP_011518635.1:p.Ile846SerfsTer4
XR_930890.1:n.4101del
NM_001351295.1:c.4101del	NP_001338224.1:p.Ile1368SerfsTer4
NM_001351296.1:c.4035del	NP_001338225.1:p.Ile1346SerfsTer4
NM_001351297.1:c.4032del	NP_001338226.1:p.Ile1345SerfsTer4
NR_147094.1:n.4330del
XM_017018197.2:c.4104del	XP_016873686.1:p.Ile1369SerfsTer4
XM_017018199.1:c.4101del	XP_016873688.1:p.Ile1368SerfsTer4
XM_017018201.2:c.4104del	XP_016873690.1:p.Ile1369SerfsTer4
XM_017018202.1:c.2601del	XP_016873691.1:p.Ile868SerfsTer4
XM_017018204.1:c.1992del	XP_016873693.1:p.Ile665SerfsTer4
XM_024448668.1:c.2403del	XP_024304436.1:p.Ile802SerfsTer4
XR_001747945.2:n.4176del
XR_001747946.2:n.4107del
XR_002957189.1:n.4772del
NM_000352.6:c.4035del MANE Select	NP_000343.2:p.Ile1346SerfsTer4
NM_001287174.2:c.4038del	NP_001274103.1:p.Ile1347SerfsTer4
NM_001351295.2:c.4101del	NP_001338224.1:p.Ile1368SerfsTer4
NM_001351296.2:c.4035del	NP_001338225.1:p.Ile1346SerfsTer4
NM_001351297.2:c.4032del	NP_001338226.1:p.Ile1345SerfsTer4
NR_147094.2:n.4330del
NM_001287174.3:c.4038del	NP_001274103.1:p.Ile1347SerfsTer4