Canonical Allele Identifier: CA918828119
Gene: ABCC8 HGNC NCBI
gnomAD v3:
11:17414489 G / GCCTC
gnomAD v4:
chr11-17414489-G-GCCTC
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17414495_17414498dup , CM000673.2:g.17414495_17414498dup GRCh38
NC_000011.9:g.17436042_17436045dup , CM000673.1:g.17436042_17436045dup GRCh37
NC_000011.8:g.17392618_17392621dup NCBI36
NG_008867.1:g.67410_67413dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2059+19_2059+22dup
ENST00000529967.6:n.649+19_649+22dup
ENST00000642611.2:n.2459+19_2459+22dup
ENST00000682051.1:n.2406+19_2406+22dup
ENST00000682110.1:n.2459+19_2459+22dup
ENST00000682140.1:c.2387+19_2387+22dup ENSP00000507829.1:n.2387+19_2387+22dup
ENST00000682185.1:n.3695+19_3695+22dup
ENST00000682204.1:c.*528+19_*528+22dup ENSP00000507094.1:n.*528+19_*528+22dup
ENST00000682215.1:n.2456+19_2456+22dup
ENST00000682288.1:c.*821+19_*821+22dup ENSP00000507506.1:n.*821+19_*821+22dup
ENST00000682442.1:n.2580+19_2580+22dup
ENST00000682528.1:n.2456+19_2456+22dup
ENST00000682673.1:n.2403+19_2403+22dup
ENST00000682805.1:n.2456+19_2456+22dup
ENST00000682965.1:c.2387+19_2387+22dup ENSP00000508229.1:n.2387+19_2387+22dup
ENST00000683093.1:n.2558+19_2558+22dup
ENST00000683136.1:c.2387+19_2387+22dup ENSP00000507768.1:n.2387+19_2387+22dup
ENST00000683153.1:n.2615+19_2615+22dup
ENST00000683365.1:n.2561+19_2561+22dup
ENST00000683377.1:n.2459+19_2459+22dup
ENST00000683456.1:c.2390+19_2390+22dup ENSP00000508318.1:n.2390+19_2390+22dup
ENST00000683522.1:n.2459+19_2459+22dup
ENST00000683562.1:c.*559+19_*559+22dup ENSP00000508265.1:n.*559+19_*559+22dup
ENST00000683693.1:n.2456+19_2456+22dup
ENST00000683725.1:c.2390+19_2390+22dup ENSP00000507496.1:n.2390+19_2390+22dup
ENST00000684010.1:n.2459+19_2459+22dup
ENST00000684157.1:n.2459+19_2459+22dup
ENST00000684253.1:n.2362+19_2362+22dup
ENST00000684288.1:c.*562+19_*562+22dup ENSP00000507143.1:n.*562+19_*562+22dup
ENST00000684313.1:n.1891+19_1891+22dup
ENST00000684332.1:n.2532+19_2532+22dup
ENST00000684371.1:n.2565+19_2565+22dup
ENST00000684404.1:n.2456+19_2456+22dup
ENST00000684442.1:n.2459+19_2459+22dup
ENST00000684555.1:c.*602+19_*602+22dup ENSP00000507705.1:n.*602+19_*602+22dup
ENST00000684571.1:c.2231+19_2231+22dup ENSP00000506935.1:n.2231+19_2231+22dup
ENST00000684593.1:c.*2095+19_*2095+22dup ENSP00000507005.1:n.*2095+19_*2095+22dup
ENST00000684711.1:c.*786+19_*786+22dup ENSP00000506841.1:n.*786+19_*786+22dup
ENST00000302539.9:c.2393+19_2393+22dup ENSP00000303960.4:n.2393+19_2393+22dup
ENST00000389817.8:c.2390+19_2390+22dup MANE Select ENSP00000374467.4:n.2390+19_2390+22dup
ENST00000642271.1:c.2387+19_2387+22dup ENSP00000493749.1:n.2387+19_2387+22dup
ENST00000642579.1:c.474+19_474+22dup
ENST00000642611.1:n.2344+19_2344+22dup
ENST00000642902.1:c.2225+19_2225+22dup
ENST00000643260.1:c.2390+19_2390+22dup ENSP00000494450.1:n.2390+19_2390+22dup
ENST00000643562.1:c.*366+19_*366+22dup ENSP00000496124.1:n.*366+19_*366+22dup
ENST00000643925.1:c.330+19_330+22dup
ENST00000644447.1:c.746+19_746+22dup ENSP00000496282.1:n.746+19_746+22dup
ENST00000644472.1:c.*751+19_*751+22dup ENSP00000495378.1:n.*751+19_*751+22dup
ENST00000644484.1:c.*599+19_*599+22dup ENSP00000493558.1:n.*599+19_*599+22dup
ENST00000644542.1:c.*2095+19_*2095+22dup ENSP00000495532.1:n.*2095+19_*2095+22dup
ENST00000644675.1:c.*562+19_*562+22dup ENSP00000494567.1:n.*562+19_*562+22dup
ENST00000644757.1:c.*695+19_*695+22dup ENSP00000495085.1:n.*695+19_*695+22dup
ENST00000644772.1:c.2456+19_2456+22dup ENSP00000494321.1:n.2456+19_2456+22dup
ENST00000645076.1:c.1642+19_1642+22dup
ENST00000645744.1:c.*754+19_*754+22dup ENSP00000494564.1:n.*754+19_*754+22dup
ENST00000645760.1:c.2665+19_2665+22dup
ENST00000645884.1:c.2390+19_2390+22dup ENSP00000495516.1:n.2390+19_2390+22dup
ENST00000646003.1:c.*531+19_*531+22dup ENSP00000495259.1:n.*531+19_*531+22dup
ENST00000646207.1:c.*754+19_*754+22dup ENSP00000495025.1:n.*754+19_*754+22dup
ENST00000646276.1:c.*663+19_*663+22dup ENSP00000496070.1:n.*663+19_*663+22dup
ENST00000646592.1:c.1616+19_1616+22dup
ENST00000646902.1:c.2387+19_2387+22dup ENSP00000494101.1:n.2387+19_2387+22dup
ENST00000646993.1:c.*786+19_*786+22dup ENSP00000493720.1:n.*786+19_*786+22dup
ENST00000647013.1:c.2396+19_2396+22dup ENSP00000496741.1:n.2396+19_2396+22dup
ENST00000647015.1:c.2141+19_2141+22dup ENSP00000495389.1:n.2141+19_2141+22dup
ENST00000647086.1:c.*2120+19_*2120+22dup ENSP00000493677.1:n.*2120+19_*2120+22dup
ENST00000647158.1:c.*531+19_*531+22dup ENSP00000495744.1:n.*531+19_*531+22dup
ENST00000302539.8:c.2393+19_2393+22dup ENSP00000303960.4:n.2393+19_2393+22dup
ENST00000389817.7:c.2390+19_2390+22dup ENSP00000374467.3:n.2390+19_2390+22dup
ENST00000527905.5:c.2360+19_2360+22dup ENSP00000431653.1:n.2360+19_2360+22dup
ENST00000529967.5:n.59+19_59+22dup
ENST00000531911.1:n.504+19_504+22dup
NM_000352.4:c.2390+19_2390+22dup NP_000343.2:n.2390+19_2390+22dup
NM_001287174.1:c.2393+19_2393+22dup NP_001274103.1:n.2393+19_2393+22dup
XM_011520331.1:c.2390+19_2390+22dup XP_011518633.1:n.2390+19_2390+22dup
XM_011520332.1:c.2393+19_2393+22dup XP_011518634.1:n.2393+19_2393+22dup
XM_011520333.1:c.890+19_890+22dup XP_011518635.1:n.890+19_890+22dup
XM_011520334.1:c.2393+19_2393+22dup XP_011518636.1:n.2393+19_2393+22dup
XR_930890.1:n.2456+19_2456+22dup
XR_930891.1:n.2456+19_2456+22dup
XR_930892.1:n.2456+19_2456+22dup
XR_930893.1:n.2453+19_2453+22dup
NM_001351295.1:c.2456+19_2456+22dup NP_001338224.1:n.2456+19_2456+22dup
NM_001351296.1:c.2390+19_2390+22dup NP_001338225.1:n.2390+19_2390+22dup
NM_001351297.1:c.2387+19_2387+22dup NP_001338226.1:n.2387+19_2387+22dup
NR_147094.1:n.2459+19_2459+22dup
XM_017018197.2:c.2459+19_2459+22dup XP_016873686.1:n.2459+19_2459+22dup
XM_017018199.1:c.2456+19_2456+22dup XP_016873688.1:n.2456+19_2456+22dup
XM_017018201.2:c.2459+19_2459+22dup XP_016873690.1:n.2459+19_2459+22dup
XM_017018202.1:c.956+19_956+22dup XP_016873691.1:n.956+19_956+22dup
XM_017018204.1:c.347+19_347+22dup XP_016873693.1:n.347+19_347+22dup
XM_024448668.1:c.758+19_758+22dup XP_024304436.1:n.758+19_758+22dup
XR_001747945.2:n.2531+19_2531+22dup
XR_001747946.2:n.2462+19_2462+22dup
XR_002957189.1:n.2531+19_2531+22dup
NM_000352.6:c.2390+19_2390+22dup MANE Select NP_000343.2:n.2390+19_2390+22dup
NM_001287174.2:c.2393+19_2393+22dup NP_001274103.1:n.2393+19_2393+22dup
NM_001351295.2:c.2456+19_2456+22dup NP_001338224.1:n.2456+19_2456+22dup
NM_001351296.2:c.2390+19_2390+22dup NP_001338225.1:n.2390+19_2390+22dup
NM_001351297.2:c.2387+19_2387+22dup NP_001338226.1:n.2387+19_2387+22dup
NR_147094.2:n.2459+19_2459+22dup
NM_001287174.3:c.2393+19_2393+22dup NP_001274103.1:n.2393+19_2393+22dup
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