Canonical Allele Identifier: CA2846694713
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17414484_17414485del , CM000673.2:g.17414484_17414485del GRCh38
NC_000011.9:g.17436031_17436032del , CM000673.1:g.17436031_17436032del GRCh37
NC_000011.8:g.17392607_17392608del NCBI36
NG_008867.1:g.67418_67419del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2059+27_2059+28del
ENST00000529967.6:n.649+27_649+28del
ENST00000642611.2:n.2459+27_2459+28del
ENST00000682051.1:n.2406+27_2406+28del
ENST00000682110.1:n.2459+27_2459+28del
ENST00000682140.1:c.2387+27_2387+28del ENSP00000507829.1:n.2387+27_2387+28del
ENST00000682185.1:n.3695+27_3695+28del
ENST00000682204.1:c.*528+27_*528+28del ENSP00000507094.1:n.*528+27_*528+28del
ENST00000682215.1:n.2456+27_2456+28del
ENST00000682288.1:c.*821+27_*821+28del ENSP00000507506.1:n.*821+27_*821+28del
ENST00000682442.1:n.2580+27_2580+28del
ENST00000682528.1:n.2456+27_2456+28del
ENST00000682673.1:n.2403+27_2403+28del
ENST00000682805.1:n.2456+27_2456+28del
ENST00000682965.1:c.2387+27_2387+28del ENSP00000508229.1:n.2387+27_2387+28del
ENST00000683093.1:n.2558+27_2558+28del
ENST00000683136.1:c.2387+27_2387+28del ENSP00000507768.1:n.2387+27_2387+28del
ENST00000683153.1:n.2615+27_2615+28del
ENST00000683365.1:n.2561+27_2561+28del
ENST00000683377.1:n.2459+27_2459+28del
ENST00000683456.1:c.2390+27_2390+28del ENSP00000508318.1:n.2390+27_2390+28del
ENST00000683522.1:n.2459+27_2459+28del
ENST00000683562.1:c.*559+27_*559+28del ENSP00000508265.1:n.*559+27_*559+28del
ENST00000683693.1:n.2456+27_2456+28del
ENST00000683725.1:c.2390+27_2390+28del ENSP00000507496.1:n.2390+27_2390+28del
ENST00000684010.1:n.2459+27_2459+28del
ENST00000684157.1:n.2459+27_2459+28del
ENST00000684253.1:n.2362+27_2362+28del
ENST00000684288.1:c.*562+27_*562+28del ENSP00000507143.1:n.*562+27_*562+28del
ENST00000684313.1:n.1891+27_1891+28del
ENST00000684332.1:n.2532+27_2532+28del
ENST00000684371.1:n.2565+27_2565+28del
ENST00000684404.1:n.2456+27_2456+28del
ENST00000684442.1:n.2459+27_2459+28del
ENST00000684555.1:c.*602+27_*602+28del ENSP00000507705.1:n.*602+27_*602+28del
ENST00000684571.1:c.2231+27_2231+28del ENSP00000506935.1:n.2231+27_2231+28del
ENST00000684593.1:c.*2095+27_*2095+28del ENSP00000507005.1:n.*2095+27_*2095+28del
ENST00000684711.1:c.*786+27_*786+28del ENSP00000506841.1:n.*786+27_*786+28del
ENST00000302539.9:c.2393+27_2393+28del ENSP00000303960.4:n.2393+27_2393+28del
ENST00000389817.8:c.2390+27_2390+28del MANE Select ENSP00000374467.4:n.2390+27_2390+28del
ENST00000642271.1:c.2387+27_2387+28del ENSP00000493749.1:n.2387+27_2387+28del
ENST00000642579.1:c.474+27_474+28del
ENST00000642611.1:n.2344+27_2344+28del
ENST00000642902.1:c.2225+27_2225+28del
ENST00000643260.1:c.2390+27_2390+28del ENSP00000494450.1:n.2390+27_2390+28del
ENST00000643562.1:c.*366+27_*366+28del ENSP00000496124.1:n.*366+27_*366+28del
ENST00000643925.1:c.330+27_330+28del
ENST00000644447.1:c.746+27_746+28del ENSP00000496282.1:n.746+27_746+28del
ENST00000644472.1:c.*751+27_*751+28del ENSP00000495378.1:n.*751+27_*751+28del
ENST00000644484.1:c.*599+27_*599+28del ENSP00000493558.1:n.*599+27_*599+28del
ENST00000644542.1:c.*2095+27_*2095+28del ENSP00000495532.1:n.*2095+27_*2095+28del
ENST00000644675.1:c.*562+27_*562+28del ENSP00000494567.1:n.*562+27_*562+28del
ENST00000644757.1:c.*695+27_*695+28del ENSP00000495085.1:n.*695+27_*695+28del
ENST00000644772.1:c.2456+27_2456+28del ENSP00000494321.1:n.2456+27_2456+28del
ENST00000645076.1:c.1642+27_1642+28del
ENST00000645744.1:c.*754+27_*754+28del ENSP00000494564.1:n.*754+27_*754+28del
ENST00000645760.1:c.2665+27_2665+28del
ENST00000645884.1:c.2390+27_2390+28del ENSP00000495516.1:n.2390+27_2390+28del
ENST00000646003.1:c.*531+27_*531+28del ENSP00000495259.1:n.*531+27_*531+28del
ENST00000646207.1:c.*754+27_*754+28del ENSP00000495025.1:n.*754+27_*754+28del
ENST00000646276.1:c.*663+27_*663+28del ENSP00000496070.1:n.*663+27_*663+28del
ENST00000646592.1:c.1616+27_1616+28del
ENST00000646902.1:c.2387+27_2387+28del ENSP00000494101.1:n.2387+27_2387+28del
ENST00000646993.1:c.*786+27_*786+28del ENSP00000493720.1:n.*786+27_*786+28del
ENST00000647013.1:c.2396+27_2396+28del ENSP00000496741.1:n.2396+27_2396+28del
ENST00000647015.1:c.2141+27_2141+28del ENSP00000495389.1:n.2141+27_2141+28del
ENST00000647086.1:c.*2120+27_*2120+28del ENSP00000493677.1:n.*2120+27_*2120+28del
ENST00000647158.1:c.*531+27_*531+28del ENSP00000495744.1:n.*531+27_*531+28del
ENST00000302539.8:c.2393+27_2393+28del ENSP00000303960.4:n.2393+27_2393+28del
ENST00000389817.7:c.2390+27_2390+28del ENSP00000374467.3:n.2390+27_2390+28del
ENST00000527905.5:c.2360+27_2360+28del ENSP00000431653.1:n.2360+27_2360+28del
ENST00000529967.5:n.59+27_59+28del
ENST00000531911.1:n.504+27_504+28del
NM_000352.4:c.2390+27_2390+28del NP_000343.2:n.2390+27_2390+28del
NM_001287174.1:c.2393+27_2393+28del NP_001274103.1:n.2393+27_2393+28del
XM_011520331.1:c.2390+27_2390+28del XP_011518633.1:n.2390+27_2390+28del
XM_011520332.1:c.2393+27_2393+28del XP_011518634.1:n.2393+27_2393+28del
XM_011520333.1:c.890+27_890+28del XP_011518635.1:n.890+27_890+28del
XM_011520334.1:c.2393+27_2393+28del XP_011518636.1:n.2393+27_2393+28del
XR_930890.1:n.2456+27_2456+28del
XR_930891.1:n.2456+27_2456+28del
XR_930892.1:n.2456+27_2456+28del
XR_930893.1:n.2453+27_2453+28del
NM_001351295.1:c.2456+27_2456+28del NP_001338224.1:n.2456+27_2456+28del
NM_001351296.1:c.2390+27_2390+28del NP_001338225.1:n.2390+27_2390+28del
NM_001351297.1:c.2387+27_2387+28del NP_001338226.1:n.2387+27_2387+28del
NR_147094.1:n.2459+27_2459+28del
XM_017018197.2:c.2459+27_2459+28del XP_016873686.1:n.2459+27_2459+28del
XM_017018199.1:c.2456+27_2456+28del XP_016873688.1:n.2456+27_2456+28del
XM_017018201.2:c.2459+27_2459+28del XP_016873690.1:n.2459+27_2459+28del
XM_017018202.1:c.956+27_956+28del XP_016873691.1:n.956+27_956+28del
XM_017018204.1:c.347+27_347+28del XP_016873693.1:n.347+27_347+28del
XM_024448668.1:c.758+27_758+28del XP_024304436.1:n.758+27_758+28del
XR_001747945.2:n.2531+27_2531+28del
XR_001747946.2:n.2462+27_2462+28del
XR_002957189.1:n.2531+27_2531+28del
NM_000352.6:c.2390+27_2390+28del MANE Select NP_000343.2:n.2390+27_2390+28del
NM_001287174.2:c.2393+27_2393+28del NP_001274103.1:n.2393+27_2393+28del
NM_001351295.2:c.2456+27_2456+28del NP_001338224.1:n.2456+27_2456+28del
NM_001351296.2:c.2390+27_2390+28del NP_001338225.1:n.2390+27_2390+28del
NM_001351297.2:c.2387+27_2387+28del NP_001338226.1:n.2387+27_2387+28del
NR_147094.2:n.2459+27_2459+28del
NM_001287174.3:c.2393+27_2393+28del NP_001274103.1:n.2393+27_2393+28del