Canonical Allele Identifier: CA2574768230
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17414586_17414593dup , CM000673.2:g.17414586_17414593dup GRCh38
NC_000011.9:g.17436133_17436140dup , CM000673.1:g.17436133_17436140dup GRCh37
NC_000011.8:g.17392709_17392716dup NCBI36
NG_008867.1:g.67310_67317dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.1978_1985dup
ENST00000529967.6:n.568_575dup
ENST00000642611.2:n.2378_2385dup
ENST00000682051.1:n.2325_2332dup
ENST00000682110.1:n.2378_2385dup
ENST00000682140.1:c.2306_2313dup ENSP00000507829.1:p.Ser772ProfsTer10
ENST00000682185.1:n.3614_3621dup
ENST00000682204.1:c.*447_*454dup ENSP00000507094.1:n.*447_*454dup
ENST00000682215.1:n.2375_2382dup
ENST00000682288.1:c.*740_*747dup ENSP00000507506.1:n.*740_*747dup
ENST00000682442.1:n.2499_2506dup
ENST00000682528.1:n.2375_2382dup
ENST00000682673.1:n.2322_2329dup
ENST00000682805.1:n.2375_2382dup
ENST00000682965.1:c.2306_2313dup ENSP00000508229.1:p.Ser772ProfsTer10
ENST00000683093.1:n.2477_2484dup
ENST00000683136.1:c.2306_2313dup ENSP00000507768.1:p.Ser772ProfsTer10
ENST00000683153.1:n.2534_2541dup
ENST00000683365.1:n.2480_2487dup
ENST00000683377.1:n.2378_2385dup
ENST00000683456.1:c.2309_2316dup ENSP00000508318.1:p.Ser773ProfsTer10
ENST00000683522.1:n.2378_2385dup
ENST00000683562.1:c.*478_*485dup ENSP00000508265.1:n.*478_*485dup
ENST00000683693.1:n.2375_2382dup
ENST00000683725.1:c.2309_2316dup ENSP00000507496.1:p.Ser773ProfsTer10
ENST00000684010.1:n.2378_2385dup
ENST00000684157.1:n.2378_2385dup
ENST00000684253.1:n.2281_2288dup
ENST00000684288.1:c.*481_*488dup ENSP00000507143.1:n.*481_*488dup
ENST00000684313.1:n.1810_1817dup
ENST00000684332.1:n.2451_2458dup
ENST00000684371.1:n.2484_2491dup
ENST00000684404.1:n.2375_2382dup
ENST00000684442.1:n.2378_2385dup
ENST00000684555.1:c.*521_*528dup ENSP00000507705.1:n.*521_*528dup
ENST00000684571.1:c.2150_2157dup ENSP00000506935.1:p.Ser720ProfsTer10
ENST00000684593.1:c.*2014_*2021dup ENSP00000507005.1:n.*2014_*2021dup
ENST00000684711.1:c.*705_*712dup ENSP00000506841.1:n.*705_*712dup
ENST00000302539.9:c.2312_2319dup ENSP00000303960.4:p.Ser774ProfsTer10
ENST00000389817.8:c.2309_2316dup MANE Select ENSP00000374467.4:p.Ser773ProfsTer10
ENST00000642271.1:c.2306_2313dup ENSP00000493749.1:p.Ser772ProfsTer10
ENST00000642579.1:c.393_400dup
ENST00000642611.1:n.2263_2270dup
ENST00000642902.1:c.2144_2151dup
ENST00000643260.1:c.2309_2316dup ENSP00000494450.1:p.Ser773ProfsTer10
ENST00000643562.1:c.*285_*292dup ENSP00000496124.1:n.*285_*292dup
ENST00000643925.1:c.249_256dup
ENST00000644447.1:c.665_672dup ENSP00000496282.1:p.Ser225ProfsTer10
ENST00000644472.1:c.*670_*677dup ENSP00000495378.1:n.*670_*677dup
ENST00000644484.1:c.*518_*525dup ENSP00000493558.1:n.*518_*525dup
ENST00000644542.1:c.*2014_*2021dup ENSP00000495532.1:n.*2014_*2021dup
ENST00000644675.1:c.*481_*488dup ENSP00000494567.1:n.*481_*488dup
ENST00000644757.1:c.*614_*621dup ENSP00000495085.1:n.*614_*621dup
ENST00000644772.1:c.2375_2382dup ENSP00000494321.1:p.Ser795ProfsTer10
ENST00000645076.1:c.1561_1568dup
ENST00000645744.1:c.*673_*680dup ENSP00000494564.1:n.*673_*680dup
ENST00000645760.1:c.2584_2591dup
ENST00000645884.1:c.2309_2316dup ENSP00000495516.1:p.Ser773ProfsTer10
ENST00000646003.1:c.*450_*457dup ENSP00000495259.1:n.*450_*457dup
ENST00000646207.1:c.*673_*680dup ENSP00000495025.1:n.*673_*680dup
ENST00000646276.1:c.*582_*589dup ENSP00000496070.1:n.*582_*589dup
ENST00000646592.1:c.1535_1542dup
ENST00000646902.1:c.2306_2313dup ENSP00000494101.1:p.Ser772ProfsTer10
ENST00000646993.1:c.*705_*712dup ENSP00000493720.1:n.*705_*712dup
ENST00000647013.1:c.2315_2322dup ENSP00000496741.1:n.2315_2322dup
ENST00000647015.1:c.2060_2067dup ENSP00000495389.1:p.Ser690ProfsTer10
ENST00000647086.1:c.*2039_*2046dup ENSP00000493677.1:n.*2039_*2046dup
ENST00000647158.1:c.*450_*457dup ENSP00000495744.1:n.*450_*457dup
ENST00000302539.8:c.2312_2319dup ENSP00000303960.4:p.Ser774ProfsTer10
ENST00000389817.7:c.2309_2316dup ENSP00000374467.3:p.Ser773ProfsTer10
ENST00000527905.5:c.2279_2286dup ENSP00000431653.1:p.Ser763ProfsTer10
ENST00000531911.1:n.423_430dup
NM_000352.4:c.2309_2316dup NP_000343.2:p.Ser773ProfsTer10
NM_001287174.1:c.2312_2319dup NP_001274103.1:p.Ser774ProfsTer10
XM_011520331.1:c.2309_2316dup XP_011518633.1:p.Ser773ProfsTer10
XM_011520332.1:c.2312_2319dup XP_011518634.1:p.Ser774ProfsTer10
XM_011520333.1:c.809_816dup XP_011518635.1:p.Ser273ProfsTer10
XM_011520334.1:c.2312_2319dup XP_011518636.1:p.Ser774ProfsTer10
XR_930890.1:n.2375_2382dup
XR_930891.1:n.2375_2382dup
XR_930892.1:n.2375_2382dup
XR_930893.1:n.2372_2379dup
NM_001351295.1:c.2375_2382dup NP_001338224.1:p.Ser795ProfsTer10
NM_001351296.1:c.2309_2316dup NP_001338225.1:p.Ser773ProfsTer10
NM_001351297.1:c.2306_2313dup NP_001338226.1:p.Ser772ProfsTer10
NR_147094.1:n.2378_2385dup
XM_017018197.2:c.2378_2385dup XP_016873686.1:p.Ser796ProfsTer10
XM_017018199.1:c.2375_2382dup XP_016873688.1:p.Ser795ProfsTer10
XM_017018201.2:c.2378_2385dup XP_016873690.1:p.Ser796ProfsTer10
XM_017018202.1:c.875_882dup XP_016873691.1:p.Ser295ProfsTer10
XM_017018204.1:c.266_273dup XP_016873693.1:p.Ser92ProfsTer10
XM_024448668.1:c.677_684dup XP_024304436.1:p.Ser229ProfsTer10
XR_001747945.2:n.2450_2457dup
XR_001747946.2:n.2381_2388dup
XR_002957189.1:n.2450_2457dup
NM_000352.6:c.2309_2316dup MANE Select NP_000343.2:p.Ser773ProfsTer10
NM_001287174.2:c.2312_2319dup NP_001274103.1:p.Ser774ProfsTer10
NM_001351295.2:c.2375_2382dup NP_001338224.1:p.Ser795ProfsTer10
NM_001351296.2:c.2309_2316dup NP_001338225.1:p.Ser773ProfsTer10
NM_001351297.2:c.2306_2313dup NP_001338226.1:p.Ser772ProfsTer10
NR_147094.2:n.2378_2385dup
NM_001287174.3:c.2312_2319dup NP_001274103.1:p.Ser774ProfsTer10