Canonical Allele Identifier: CA1955131212
Gene: ABCC8 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17412472_17412474delinsATG , CM000673.2:g.17412472_17412474delinsATG GRCh38
NC_000011.9:g.17434019_17434021delinsATG , CM000673.1:g.17434019_17434021delinsATG GRCh37
NC_000011.8:g.17390595_17390597delinsATG NCBI36
NG_008867.1:g.69429_69431delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2225+192_2225+194delinsCAT
ENST00000529967.6:n.815+192_815+194delinsCAT
ENST00000642611.2:n.2625+192_2625+194delinsCAT
ENST00000682051.1:n.2572+192_2572+194delinsCAT
ENST00000682110.1:n.2625+192_2625+194delinsCAT
ENST00000682140.1:c.2553+192_2553+194delinsCAT ENSP00000507829.1:n.2553+192_2553+194delinsCAT
ENST00000682185.1:n.3861+192_3861+194delinsCAT
ENST00000682204.1:c.*694+192_*694+194delinsCAT ENSP00000507094.1:n.*694+192_*694+194delinsCAT
ENST00000682215.1:n.2622+192_2622+194delinsCAT
ENST00000682288.1:c.*987+192_*987+194delinsCAT ENSP00000507506.1:n.*987+192_*987+194delinsCAT
ENST00000682442.1:n.2746+192_2746+194delinsCAT
ENST00000682528.1:n.2622+192_2622+194delinsCAT
ENST00000682673.1:n.2569+192_2569+194delinsCAT
ENST00000682805.1:n.2622+192_2622+194delinsCAT
ENST00000682965.1:c.2553+192_2553+194delinsCAT ENSP00000508229.1:n.2553+192_2553+194delinsCAT
ENST00000683093.1:n.2724+192_2724+194delinsCAT
ENST00000683136.1:c.2553+192_2553+194delinsCAT ENSP00000507768.1:n.2553+192_2553+194delinsCAT
ENST00000683153.1:n.2781+192_2781+194delinsCAT
ENST00000683365.1:n.2727+192_2727+194delinsCAT
ENST00000683377.1:n.2625+192_2625+194delinsCAT
ENST00000683456.1:c.2556+192_2556+194delinsCAT ENSP00000508318.1:n.2556+192_2556+194delinsCAT
ENST00000683522.1:n.2625+192_2625+194delinsCAT
ENST00000683562.1:c.*725+192_*725+194delinsCAT ENSP00000508265.1:n.*725+192_*725+194delinsCAT
ENST00000683693.1:n.2622+192_2622+194delinsCAT
ENST00000683725.1:c.2556+192_2556+194delinsCAT ENSP00000507496.1:n.2556+192_2556+194delinsCAT
ENST00000684010.1:n.2540+192_2540+194delinsCAT
ENST00000684157.1:n.2625+192_2625+194delinsCAT
ENST00000684253.1:n.2528+192_2528+194delinsCAT
ENST00000684288.1:c.*728+192_*728+194delinsCAT ENSP00000507143.1:n.*728+192_*728+194delinsCAT
ENST00000684313.1:n.2057+192_2057+194delinsCAT
ENST00000684332.1:n.2698+192_2698+194delinsCAT
ENST00000684371.1:n.2731+192_2731+194delinsCAT
ENST00000684404.1:n.2622+192_2622+194delinsCAT
ENST00000684442.1:n.2625+192_2625+194delinsCAT
ENST00000684555.1:c.*768+192_*768+194delinsCAT ENSP00000507705.1:n.*768+192_*768+194delinsCAT
ENST00000684571.1:c.2397+192_2397+194delinsCAT ENSP00000506935.1:n.2397+192_2397+194delinsCAT
ENST00000684593.1:c.*2261+192_*2261+194delinsCAT ENSP00000507005.1:n.*2261+192_*2261+194delinsCAT
ENST00000684711.1:c.*952+192_*952+194delinsCAT ENSP00000506841.1:n.*952+192_*952+194delinsCAT
ENST00000302539.9:c.2559+192_2559+194delinsCAT ENSP00000303960.4:n.2559+192_2559+194delinsCAT
ENST00000389817.8:c.2556+192_2556+194delinsCAT MANE Select ENSP00000374467.4:n.2556+192_2556+194delinsCAT
ENST00000642271.1:c.2553+192_2553+194delinsCAT ENSP00000493749.1:n.2553+192_2553+194delinsCAT
ENST00000642579.1:c.640+192_640+194delinsCAT
ENST00000642611.1:n.2510+192_2510+194delinsCAT
ENST00000642902.1:c.2391+192_2391+194delinsCAT
ENST00000643260.1:c.2556+192_2556+194delinsCAT ENSP00000494450.1:n.2556+192_2556+194delinsCAT
ENST00000643562.1:c.*532+192_*532+194delinsCAT ENSP00000496124.1:n.*532+192_*532+194delinsCAT
ENST00000643925.1:c.600+192_600+194delinsCAT
ENST00000644447.1:c.912+192_912+194delinsCAT ENSP00000496282.1:n.912+192_912+194delinsCAT
ENST00000644472.1:c.*917+192_*917+194delinsCAT ENSP00000495378.1:n.*917+192_*917+194delinsCAT
ENST00000644484.1:c.*765+192_*765+194delinsCAT ENSP00000493558.1:n.*765+192_*765+194delinsCAT
ENST00000644542.1:c.*2261+192_*2261+194delinsCAT ENSP00000495532.1:n.*2261+192_*2261+194delinsCAT
ENST00000644675.1:c.*728+192_*728+194delinsCAT ENSP00000494567.1:n.*728+192_*728+194delinsCAT
ENST00000644757.1:c.*861+192_*861+194delinsCAT ENSP00000495085.1:n.*861+192_*861+194delinsCAT
ENST00000644772.1:c.2622+192_2622+194delinsCAT ENSP00000494321.1:n.2622+192_2622+194delinsCAT
ENST00000645076.1:c.1808+192_1808+194delinsCAT
ENST00000645744.1:c.*920+192_*920+194delinsCAT ENSP00000494564.1:n.*920+192_*920+194delinsCAT
ENST00000645760.1:c.2831+192_2831+194delinsCAT
ENST00000645884.1:c.2556+192_2556+194delinsCAT ENSP00000495516.1:n.2556+192_2556+194delinsCAT
ENST00000646003.1:c.*612+192_*612+194delinsCAT ENSP00000495259.1:n.*612+192_*612+194delinsCAT
ENST00000646207.1:c.*920+192_*920+194delinsCAT ENSP00000495025.1:n.*920+192_*920+194delinsCAT
ENST00000646276.1:c.*829+192_*829+194delinsCAT ENSP00000496070.1:n.*829+192_*829+194delinsCAT
ENST00000646592.1:c.1782+192_1782+194delinsCAT
ENST00000646902.1:c.2553+192_2553+194delinsCAT ENSP00000494101.1:n.2553+192_2553+194delinsCAT
ENST00000646993.1:c.*952+192_*952+194delinsCAT ENSP00000493720.1:n.*952+192_*952+194delinsCAT
ENST00000647013.1:c.2562+192_2562+194delinsCAT ENSP00000496741.1:n.2562+192_2562+194delinsCAT
ENST00000647015.1:c.2307+192_2307+194delinsCAT ENSP00000495389.1:n.2307+192_2307+194delinsCAT
ENST00000647086.1:c.*2286+192_*2286+194delinsCAT ENSP00000493677.1:n.*2286+192_*2286+194delinsCAT
ENST00000647158.1:c.*697+192_*697+194delinsCAT ENSP00000495744.1:n.*697+192_*697+194delinsCAT
ENST00000302539.8:c.2559+192_2559+194delinsCAT ENSP00000303960.4:n.2559+192_2559+194delinsCAT
ENST00000389817.7:c.2556+192_2556+194delinsCAT ENSP00000374467.3:n.2556+192_2556+194delinsCAT
ENST00000526921.5:n.240+192_240+194delinsCAT
ENST00000527905.5:c.2526+192_2526+194delinsCAT ENSP00000431653.1:n.2526+192_2526+194delinsCAT
ENST00000529967.5:n.225+192_225+194delinsCAT
ENST00000530147.5:n.139+192_139+194delinsCAT
ENST00000531911.1:n.670+192_670+194delinsCAT
NM_000352.4:c.2556+192_2556+194delinsCAT NP_000343.2:n.2556+192_2556+194delinsCAT
NM_001287174.1:c.2559+192_2559+194delinsCAT NP_001274103.1:n.2559+192_2559+194delinsCAT
XM_011520331.1:c.2556+192_2556+194delinsCAT XP_011518633.1:n.2556+192_2556+194delinsCAT
XM_011520332.1:c.2559+192_2559+194delinsCAT XP_011518634.1:n.2559+192_2559+194delinsCAT
XM_011520333.1:c.1056+192_1056+194delinsCAT XP_011518635.1:n.1056+192_1056+194delinsCAT
XM_011520334.1:c.2559+192_2559+194delinsCAT XP_011518636.1:n.2559+192_2559+194delinsCAT
XR_930890.1:n.2622+192_2622+194delinsCAT
XR_930891.1:n.2622+192_2622+194delinsCAT
XR_930892.1:n.2622+192_2622+194delinsCAT
XR_930893.1:n.2619+192_2619+194delinsCAT
NM_001351295.1:c.2622+192_2622+194delinsCAT NP_001338224.1:n.2622+192_2622+194delinsCAT
NM_001351296.1:c.2556+192_2556+194delinsCAT NP_001338225.1:n.2556+192_2556+194delinsCAT
NM_001351297.1:c.2553+192_2553+194delinsCAT NP_001338226.1:n.2553+192_2553+194delinsCAT
NR_147094.1:n.2625+192_2625+194delinsCAT
XM_017018197.2:c.2625+192_2625+194delinsCAT XP_016873686.1:n.2625+192_2625+194delinsCAT
XM_017018199.1:c.2622+192_2622+194delinsCAT XP_016873688.1:n.2622+192_2622+194delinsCAT
XM_017018201.2:c.2625+192_2625+194delinsCAT XP_016873690.1:n.2625+192_2625+194delinsCAT
XM_017018202.1:c.1122+192_1122+194delinsCAT XP_016873691.1:n.1122+192_1122+194delinsCAT
XM_017018204.1:c.513+192_513+194delinsCAT XP_016873693.1:n.513+192_513+194delinsCAT
XM_024448668.1:c.924+192_924+194delinsCAT XP_024304436.1:n.924+192_924+194delinsCAT
XR_001747945.2:n.2697+192_2697+194delinsCAT
XR_001747946.2:n.2628+192_2628+194delinsCAT
XR_002957189.1:n.2697+192_2697+194delinsCAT
NM_000352.6:c.2556+192_2556+194delinsCAT MANE Select NP_000343.2:n.2556+192_2556+194delinsCAT
NM_001287174.2:c.2559+192_2559+194delinsCAT NP_001274103.1:n.2559+192_2559+194delinsCAT
NM_001351295.2:c.2622+192_2622+194delinsCAT NP_001338224.1:n.2622+192_2622+194delinsCAT
NM_001351296.2:c.2556+192_2556+194delinsCAT NP_001338225.1:n.2556+192_2556+194delinsCAT
NM_001351297.2:c.2553+192_2553+194delinsCAT NP_001338226.1:n.2553+192_2553+194delinsCAT
NR_147094.2:n.2625+192_2625+194delinsCAT
NM_001287174.3:c.2559+192_2559+194delinsCAT NP_001274103.1:n.2559+192_2559+194delinsCAT
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