Canonical Allele Identifier: CA2695213308
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17412671_17412673del , CM000673.2:g.17412671_17412673del GRCh38
NC_000011.9:g.17434218_17434220del , CM000673.1:g.17434218_17434220del GRCh37
NC_000011.8:g.17390794_17390796del NCBI36
NG_008867.1:g.69234_69236del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2222_2224del
ENST00000529967.6:n.812_814del
ENST00000642611.2:n.2622_2624del
ENST00000682051.1:n.2569_2571del
ENST00000682110.1:n.2622_2624del
ENST00000682140.1:c.2550_2552del ENSP00000507829.1:p.Phe850del
ENST00000682185.1:n.3858_3860del
ENST00000682204.1:c.*691_*693del ENSP00000507094.1:n.*691_*693del
ENST00000682215.1:n.2619_2621del
ENST00000682288.1:c.*984_*986del ENSP00000507506.1:n.*984_*986del
ENST00000682442.1:n.2743_2745del
ENST00000682528.1:n.2619_2621del
ENST00000682673.1:n.2566_2568del
ENST00000682805.1:n.2619_2621del
ENST00000682965.1:c.2550_2552del ENSP00000508229.1:p.Phe850del
ENST00000683093.1:n.2721_2723del
ENST00000683136.1:c.2550_2552del ENSP00000507768.1:p.Phe850del
ENST00000683153.1:n.2778_2780del
ENST00000683365.1:n.2724_2726del
ENST00000683377.1:n.2622_2624del
ENST00000683456.1:c.2553_2555del ENSP00000508318.1:p.Phe851del
ENST00000683522.1:n.2622_2624del
ENST00000683562.1:c.*722_*724del ENSP00000508265.1:n.*722_*724del
ENST00000683693.1:n.2619_2621del
ENST00000683725.1:c.2553_2555del ENSP00000507496.1:p.Phe851del
ENST00000684010.1:n.2537_2539del
ENST00000684157.1:n.2622_2624del
ENST00000684253.1:n.2525_2527del
ENST00000684288.1:c.*725_*727del ENSP00000507143.1:n.*725_*727del
ENST00000684313.1:n.2054_2056del
ENST00000684332.1:n.2695_2697del
ENST00000684371.1:n.2728_2730del
ENST00000684404.1:n.2619_2621del
ENST00000684442.1:n.2622_2624del
ENST00000684555.1:c.*765_*767del ENSP00000507705.1:n.*765_*767del
ENST00000684571.1:c.2394_2396del ENSP00000506935.1:p.Phe798del
ENST00000684593.1:c.*2258_*2260del ENSP00000507005.1:n.*2258_*2260del
ENST00000684711.1:c.*949_*951del ENSP00000506841.1:n.*949_*951del
ENST00000302539.9:c.2556_2558del ENSP00000303960.4:p.Phe852del
ENST00000389817.8:c.2553_2555del MANE Select ENSP00000374467.4:p.Phe851del
ENST00000642271.1:c.2550_2552del ENSP00000493749.1:p.Phe850del
ENST00000642579.1:c.637_639del
ENST00000642611.1:n.2507_2509del
ENST00000642902.1:c.2388_2390del
ENST00000643260.1:c.2553_2555del ENSP00000494450.1:p.Phe851del
ENST00000643562.1:c.*529_*531del ENSP00000496124.1:n.*529_*531del
ENST00000643925.1:c.597_599del
ENST00000644447.1:c.909_911del ENSP00000496282.1:p.Phe303del
ENST00000644472.1:c.*914_*916del ENSP00000495378.1:n.*914_*916del
ENST00000644484.1:c.*762_*764del ENSP00000493558.1:n.*762_*764del
ENST00000644542.1:c.*2258_*2260del ENSP00000495532.1:n.*2258_*2260del
ENST00000644675.1:c.*725_*727del ENSP00000494567.1:n.*725_*727del
ENST00000644757.1:c.*858_*860del ENSP00000495085.1:n.*858_*860del
ENST00000644772.1:c.2619_2621del ENSP00000494321.1:p.Phe873del
ENST00000645076.1:c.1805_1807del
ENST00000645744.1:c.*917_*919del ENSP00000494564.1:n.*917_*919del
ENST00000645760.1:c.2828_2830del
ENST00000645884.1:c.2553_2555del ENSP00000495516.1:p.Phe851del
ENST00000646003.1:c.*609_*611del ENSP00000495259.1:n.*609_*611del
ENST00000646207.1:c.*917_*919del ENSP00000495025.1:n.*917_*919del
ENST00000646276.1:c.*826_*828del ENSP00000496070.1:n.*826_*828del
ENST00000646592.1:c.1779_1781del
ENST00000646902.1:c.2550_2552del ENSP00000494101.1:p.Phe850del
ENST00000646993.1:c.*949_*951del ENSP00000493720.1:n.*949_*951del
ENST00000647013.1:c.2559_2561del ENSP00000496741.1:n.2559_2561del
ENST00000647015.1:c.2304_2306del ENSP00000495389.1:p.Phe768del
ENST00000647086.1:c.*2283_*2285del ENSP00000493677.1:n.*2283_*2285del
ENST00000647158.1:c.*694_*696del ENSP00000495744.1:n.*694_*696del
ENST00000302539.8:c.2556_2558del ENSP00000303960.4:p.Phe852del
ENST00000389817.7:c.2553_2555del ENSP00000374467.3:p.Phe851del
ENST00000526921.5:n.237_239del
ENST00000527905.5:c.2523_2525del ENSP00000431653.1:p.Phe841del
ENST00000529967.5:n.222_224del
ENST00000530147.5:n.136_138del
ENST00000531911.1:n.667_669del
NM_000352.4:c.2553_2555del NP_000343.2:p.Phe851del
NM_001287174.1:c.2556_2558del NP_001274103.1:p.Phe852del
XM_011520331.1:c.2553_2555del XP_011518633.1:p.Phe851del
XM_011520332.1:c.2556_2558del XP_011518634.1:p.Phe852del
XM_011520333.1:c.1053_1055del XP_011518635.1:p.Phe351del
XM_011520334.1:c.2556_2558del XP_011518636.1:p.Phe852del
XR_930890.1:n.2619_2621del
XR_930891.1:n.2619_2621del
XR_930892.1:n.2619_2621del
XR_930893.1:n.2616_2618del
NM_001351295.1:c.2619_2621del NP_001338224.1:p.Phe873del
NM_001351296.1:c.2553_2555del NP_001338225.1:p.Phe851del
NM_001351297.1:c.2550_2552del NP_001338226.1:p.Phe850del
NR_147094.1:n.2622_2624del
XM_017018197.2:c.2622_2624del XP_016873686.1:p.Phe874del
XM_017018199.1:c.2619_2621del XP_016873688.1:p.Phe873del
XM_017018201.2:c.2622_2624del XP_016873690.1:p.Phe874del
XM_017018202.1:c.1119_1121del XP_016873691.1:p.Phe373del
XM_017018204.1:c.510_512del XP_016873693.1:p.Phe170del
XM_024448668.1:c.921_923del XP_024304436.1:p.Phe307del
XR_001747945.2:n.2694_2696del
XR_001747946.2:n.2625_2627del
XR_002957189.1:n.2694_2696del
NM_000352.6:c.2553_2555del MANE Select NP_000343.2:p.Phe851del
NM_001287174.2:c.2556_2558del NP_001274103.1:p.Phe852del
NM_001351295.2:c.2619_2621del NP_001338224.1:p.Phe873del
NM_001351296.2:c.2553_2555del NP_001338225.1:p.Phe851del
NM_001351297.2:c.2550_2552del NP_001338226.1:p.Phe850del
NR_147094.2:n.2622_2624del
NM_001287174.3:c.2556_2558del NP_001274103.1:p.Phe852del