Canonical Allele Identifier: CA3003295150
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17414586dup , CM000673.2:g.17414586dup GRCh38
NC_000011.9:g.17436133dup , CM000673.1:g.17436133dup GRCh37
NC_000011.8:g.17392709dup NCBI36
NG_008867.1:g.67318dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.1986dup
ENST00000529967.6:n.576dup
ENST00000642611.2:n.2386dup
ENST00000682051.1:n.2333dup
ENST00000682110.1:n.2386dup
ENST00000682140.1:c.2314dup ENSP00000507829.1:p.Ser772PhefsTer18
ENST00000682185.1:n.3622dup
ENST00000682204.1:c.*455dup ENSP00000507094.1:n.*455dup
ENST00000682215.1:n.2383dup
ENST00000682288.1:c.*748dup ENSP00000507506.1:n.*748dup
ENST00000682442.1:n.2507dup
ENST00000682528.1:n.2383dup
ENST00000682673.1:n.2330dup
ENST00000682805.1:n.2383dup
ENST00000682965.1:c.2314dup ENSP00000508229.1:p.Ser772PhefsTer18
ENST00000683093.1:n.2485dup
ENST00000683136.1:c.2314dup ENSP00000507768.1:p.Ser772PhefsTer18
ENST00000683153.1:n.2542dup
ENST00000683365.1:n.2488dup
ENST00000683377.1:n.2386dup
ENST00000683456.1:c.2317dup ENSP00000508318.1:p.Ser773PhefsTer18
ENST00000683522.1:n.2386dup
ENST00000683562.1:c.*486dup ENSP00000508265.1:n.*486dup
ENST00000683693.1:n.2383dup
ENST00000683725.1:c.2317dup ENSP00000507496.1:p.Ser773PhefsTer18
ENST00000684010.1:n.2386dup
ENST00000684157.1:n.2386dup
ENST00000684253.1:n.2289dup
ENST00000684288.1:c.*489dup ENSP00000507143.1:n.*489dup
ENST00000684313.1:n.1818dup
ENST00000684332.1:n.2459dup
ENST00000684371.1:n.2492dup
ENST00000684404.1:n.2383dup
ENST00000684442.1:n.2386dup
ENST00000684555.1:c.*529dup ENSP00000507705.1:n.*529dup
ENST00000684571.1:c.2158dup ENSP00000506935.1:p.Ser720PhefsTer18
ENST00000684593.1:c.*2022dup ENSP00000507005.1:n.*2022dup
ENST00000684711.1:c.*713dup ENSP00000506841.1:n.*713dup
ENST00000302539.9:c.2320dup ENSP00000303960.4:p.Ser774PhefsTer18
ENST00000389817.8:c.2317dup MANE Select ENSP00000374467.4:p.Ser773PhefsTer18
ENST00000642271.1:c.2314dup ENSP00000493749.1:p.Ser772PhefsTer18
ENST00000642579.1:c.401dup
ENST00000642611.1:n.2271dup
ENST00000642902.1:c.2152dup
ENST00000643260.1:c.2317dup ENSP00000494450.1:p.Ser773PhefsTer18
ENST00000643562.1:c.*293dup ENSP00000496124.1:n.*293dup
ENST00000643925.1:c.257dup
ENST00000644447.1:c.673dup ENSP00000496282.1:p.Ser225PhefsTer18
ENST00000644472.1:c.*678dup ENSP00000495378.1:n.*678dup
ENST00000644484.1:c.*526dup ENSP00000493558.1:n.*526dup
ENST00000644542.1:c.*2022dup ENSP00000495532.1:n.*2022dup
ENST00000644675.1:c.*489dup ENSP00000494567.1:n.*489dup
ENST00000644757.1:c.*622dup ENSP00000495085.1:n.*622dup
ENST00000644772.1:c.2383dup ENSP00000494321.1:p.Ser795PhefsTer18
ENST00000645076.1:c.1569dup
ENST00000645744.1:c.*681dup ENSP00000494564.1:n.*681dup
ENST00000645760.1:c.2592dup
ENST00000645884.1:c.2317dup ENSP00000495516.1:p.Ser773PhefsTer18
ENST00000646003.1:c.*458dup ENSP00000495259.1:n.*458dup
ENST00000646207.1:c.*681dup ENSP00000495025.1:n.*681dup
ENST00000646276.1:c.*590dup ENSP00000496070.1:n.*590dup
ENST00000646592.1:c.1543dup
ENST00000646902.1:c.2314dup ENSP00000494101.1:p.Ser772PhefsTer18
ENST00000646993.1:c.*713dup ENSP00000493720.1:n.*713dup
ENST00000647013.1:c.2323dup ENSP00000496741.1:n.2323dup
ENST00000647015.1:c.2068dup ENSP00000495389.1:p.Ser690PhefsTer18
ENST00000647086.1:c.*2047dup ENSP00000493677.1:n.*2047dup
ENST00000647158.1:c.*458dup ENSP00000495744.1:n.*458dup
ENST00000302539.8:c.2320dup ENSP00000303960.4:p.Ser774PhefsTer18
ENST00000389817.7:c.2317dup ENSP00000374467.3:p.Ser773PhefsTer18
ENST00000527905.5:c.2287dup ENSP00000431653.1:p.Ser763PhefsTer18
ENST00000531911.1:n.431dup
NM_000352.4:c.2317dup NP_000343.2:p.Ser773PhefsTer18
NM_001287174.1:c.2320dup NP_001274103.1:p.Ser774PhefsTer18
XM_011520331.1:c.2317dup XP_011518633.1:p.Ser773PhefsTer18
XM_011520332.1:c.2320dup XP_011518634.1:p.Ser774PhefsTer18
XM_011520333.1:c.817dup XP_011518635.1:p.Ser273PhefsTer18
XM_011520334.1:c.2320dup XP_011518636.1:p.Ser774PhefsTer18
XR_930890.1:n.2383dup
XR_930891.1:n.2383dup
XR_930892.1:n.2383dup
XR_930893.1:n.2380dup
NM_001351295.1:c.2383dup NP_001338224.1:p.Ser795PhefsTer18
NM_001351296.1:c.2317dup NP_001338225.1:p.Ser773PhefsTer18
NM_001351297.1:c.2314dup NP_001338226.1:p.Ser772PhefsTer18
NR_147094.1:n.2386dup
XM_017018197.2:c.2386dup XP_016873686.1:p.Ser796PhefsTer18
XM_017018199.1:c.2383dup XP_016873688.1:p.Ser795PhefsTer18
XM_017018201.2:c.2386dup XP_016873690.1:p.Ser796PhefsTer18
XM_017018202.1:c.883dup XP_016873691.1:p.Ser295PhefsTer18
XM_017018204.1:c.274dup XP_016873693.1:p.Ser92PhefsTer18
XM_024448668.1:c.685dup XP_024304436.1:p.Ser229PhefsTer18
XR_001747945.2:n.2458dup
XR_001747946.2:n.2389dup
XR_002957189.1:n.2458dup
NM_000352.6:c.2317dup MANE Select NP_000343.2:p.Ser773PhefsTer18
NM_001287174.2:c.2320dup NP_001274103.1:p.Ser774PhefsTer18
NM_001351295.2:c.2383dup NP_001338224.1:p.Ser795PhefsTer18
NM_001351296.2:c.2317dup NP_001338225.1:p.Ser773PhefsTer18
NM_001351297.2:c.2314dup NP_001338226.1:p.Ser772PhefsTer18
NR_147094.2:n.2386dup
NM_001287174.3:c.2320dup NP_001274103.1:p.Ser774PhefsTer18