Canonical Allele Identifier: CA2695213267

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397002_17397007del , CM000673.2:g.17397002_17397007del	GRCh38
NC_000011.9:g.17418549_17418554del , CM000673.1:g.17418549_17418554del	GRCh37
NC_000011.8:g.17375125_17375130del	NCBI36
NG_008867.1:g.84905_84910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3638_3643del
ENST00000528374.2:c.628_633del
ENST00000529967.6:n.2376_2381del
ENST00000532220.2:n.2285_2290del
ENST00000642611.2:n.4252_4257del
ENST00000644057.2:n.480_485del
ENST00000645004.2:n.1536_1541del
ENST00000682051.1:n.4199_4204del
ENST00000682110.1:n.4252_4257del
ENST00000682140.1:c.3985+195_3985+200del	ENSP00000507829.1:n.3985+195_3985+200del
ENST00000682185.1:n.5342_5347del
ENST00000682204.1:c.*2175_*2180del	ENSP00000507094.1:n.*2175_*2180del
ENST00000682215.1:n.4619_4624del
ENST00000682288.1:c.*2468_*2473del	ENSP00000507506.1:n.*2468_*2473del
ENST00000682442.1:n.4472_4477del
ENST00000682528.1:n.4329_4334del
ENST00000682673.1:n.4196_4201del
ENST00000682805.1:n.4619_4624del
ENST00000682965.1:c.*459_*464del	ENSP00000508229.1:n.*459_*464del
ENST00000683093.1:n.4351_4356del
ENST00000683136.1:c.3920_3925del	ENSP00000507768.1:p.Ile1307_Gln1308del
ENST00000683153.1:n.4294_4299del
ENST00000683365.1:n.4354_4359del
ENST00000683377.1:n.4252_4257del
ENST00000683456.1:c.*1174_*1179del	ENSP00000508318.1:n.*1174_*1179del
ENST00000683522.1:n.4252_4257del
ENST00000683562.1:c.*2206_*2211del	ENSP00000508265.1:n.*2206_*2211del
ENST00000683693.1:n.4699_4704del
ENST00000683725.1:c.4037_4042del	ENSP00000507496.1:p.Ile1346_Gln1347del
ENST00000684010.1:n.4247_4252del
ENST00000684157.1:n.4252_4257del
ENST00000684253.1:n.4155_4160del
ENST00000684288.1:c.*2209_*2214del	ENSP00000507143.1:n.*2209_*2214del
ENST00000684313.1:n.3684_3689del
ENST00000684332.1:n.4325_4330del
ENST00000684371.1:n.4358_4363del
ENST00000684404.1:n.4295_4300del
ENST00000684442.1:n.4476_4481del
ENST00000684555.1:c.*2249_*2254del	ENSP00000507705.1:n.*2249_*2254del
ENST00000684571.1:c.3878_3883del	ENSP00000506935.1:p.Ile1293_Gln1294del
ENST00000684593.1:c.*3742_*3747del	ENSP00000507005.1:n.*3742_*3747del
ENST00000684711.1:c.*2433_*2438del	ENSP00000506841.1:n.*2433_*2438del
ENST00000302539.9:c.4040_4045del	ENSP00000303960.4:p.Ile1347_Gln1348del
ENST00000389817.8:c.4037_4042del MANE Select	ENSP00000374467.4:p.Ile1346_Gln1347del
ENST00000642271.1:c.4034_4039del	ENSP00000493749.1:p.Ile1345_Gln1346del
ENST00000642579.1:c.2091_2096del
ENST00000642611.1:n.4137_4142del
ENST00000642902.1:c.3819_3824del
ENST00000643260.1:c.4037_4042del	ENSP00000494450.1:p.Ile1346_Gln1347del
ENST00000643562.1:c.*2159_*2164del	ENSP00000496124.1:n.*2159_*2164del
ENST00000643925.1:c.2677_2682del
ENST00000644057.1:n.114_119del
ENST00000644484.1:c.*2438_*2443del	ENSP00000493558.1:n.*2438_*2443del
ENST00000644675.1:c.*2209_*2214del	ENSP00000494567.1:n.*2209_*2214del
ENST00000644757.1:c.*2468_*2473del	ENSP00000495085.1:n.*2468_*2473del
ENST00000644772.1:c.4103_4108del	ENSP00000494321.1:p.Ile1368_Gln1369del
ENST00000645004.1:n.1692_1697del
ENST00000645076.1:c.3236_3241del
ENST00000645417.1:c.1225_1230del
ENST00000645744.1:c.*2817_*2822del	ENSP00000494564.1:n.*2817_*2822del
ENST00000645760.1:c.4458_4463del
ENST00000645884.1:c.*1320_*1325del	ENSP00000495516.1:n.*1320_*1325del
ENST00000646003.1:c.*2139_*2144del	ENSP00000495259.1:n.*2139_*2144del
ENST00000646207.1:c.*2874_*2879del	ENSP00000495025.1:n.*2874_*2879del
ENST00000646276.1:c.*2456_*2461del	ENSP00000496070.1:n.*2456_*2461del
ENST00000646592.1:c.3343_3348del
ENST00000646902.1:c.4004_4009del	ENSP00000494101.1:p.Ile1335_Gln1336del
ENST00000646993.1:c.*2579_*2584del	ENSP00000493720.1:n.*2579_*2584del
ENST00000647013.1:c.4043_4048del	ENSP00000496741.1:n.4043_4048del
ENST00000647015.1:c.3788_3793del	ENSP00000495389.1:p.Ile1263_Gln1264del
ENST00000647086.1:c.*3623_*3628del	ENSP00000493677.1:n.*3623_*3628del
ENST00000647158.1:c.*2324_*2329del	ENSP00000495744.1:n.*2324_*2329del
ENST00000302539.8:c.4040_4045del	ENSP00000303960.4:p.Ile1347_Gln1348del
ENST00000389817.7:c.4037_4042del	ENSP00000374467.3:p.Ile1346_Gln1347del
ENST00000527905.5:c.*1059_*1064del	ENSP00000431653.1:n.*1059_*1064del
ENST00000528374.1:c.519_524del
ENST00000531137.1:n.602_607del
ENST00000531891.1:c.375_380del
ENST00000532220.1:n.511_516del
NM_000352.4:c.4037_4042del	NP_000343.2:p.Ile1346_Gln1347del
NM_001287174.1:c.4040_4045del	NP_001274103.1:p.Ile1347_Gln1348del
XM_011520331.1:c.4037_4042del	XP_011518633.1:p.Ile1346_Gln1347del
XM_011520332.1:c.4040_4045del	XP_011518634.1:p.Ile1347_Gln1348del
XM_011520333.1:c.2537_2542del	XP_011518635.1:p.Ile846_Gln847del
XR_930890.1:n.4103_4108del
NM_001351295.1:c.4103_4108del	NP_001338224.1:p.Ile1368_Gln1369del
NM_001351296.1:c.4037_4042del	NP_001338225.1:p.Ile1346_Gln1347del
NM_001351297.1:c.4034_4039del	NP_001338226.1:p.Ile1345_Gln1346del
NR_147094.1:n.4332_4337del
XM_017018197.2:c.4106_4111del	XP_016873686.1:p.Ile1369_Gln1370del
XM_017018199.1:c.4103_4108del	XP_016873688.1:p.Ile1368_Gln1369del
XM_017018201.2:c.4106_4111del	XP_016873690.1:p.Ile1369_Gln1370del
XM_017018202.1:c.2603_2608del	XP_016873691.1:p.Ile868_Gln869del
XM_017018204.1:c.1994_1999del	XP_016873693.1:p.Ile665_Gln666del
XM_024448668.1:c.2405_2410del	XP_024304436.1:p.Ile802_Gln803del
XR_001747945.2:n.4178_4183del
XR_001747946.2:n.4109_4114del
XR_002957189.1:n.4774_4779del
NM_000352.6:c.4037_4042del MANE Select	NP_000343.2:p.Ile1346_Gln1347del
NM_001287174.2:c.4040_4045del	NP_001274103.1:p.Ile1347_Gln1348del
NM_001351295.2:c.4103_4108del	NP_001338224.1:p.Ile1368_Gln1369del
NM_001351296.2:c.4037_4042del	NP_001338225.1:p.Ile1346_Gln1347del
NM_001351297.2:c.4034_4039del	NP_001338226.1:p.Ile1345_Gln1346del
NR_147094.2:n.4332_4337del
NM_001287174.3:c.4040_4045del	NP_001274103.1:p.Ile1347_Gln1348del