Canonical Allele Identifier: CA935529519
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406791_17406889del , CM000673.2:g.17406791_17406889del GRCh38
NC_000011.9:g.17428338_17428436del , CM000673.1:g.17428338_17428436del GRCh37
NC_000011.8:g.17384914_17385012del NCBI36
NG_008867.1:g.75017_75115del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2731+2_2732del
ENST00000529967.6:n.1501+2_1502del
ENST00000532220.2:n.894+2_895del
ENST00000642611.2:n.3231+2_3232del
ENST00000645004.2:n.661+2_662del
ENST00000682051.1:n.3178+2_3179del
ENST00000682110.1:n.3231+2_3232del
ENST00000682140.1:c.3159+2_3160del
ENST00000682185.1:n.4467+2_4468del
ENST00000682204.1:c.*1300+2_*1301del
ENST00000682215.1:n.3228+2_3229del
ENST00000682288.1:c.*1593+2_*1594del
ENST00000682442.1:n.3354_3452del
ENST00000682528.1:n.3308+2_3309del
ENST00000682673.1:n.3175+2_3176del
ENST00000682805.1:n.3228+2_3229del
ENST00000682965.1:c.3159+2_3160del
ENST00000683093.1:n.3330+2_3331del
ENST00000683136.1:c.3159+2_3160del
ENST00000683153.1:n.3387+2_3388del
ENST00000683365.1:n.3333+2_3334del
ENST00000683377.1:n.3231+2_3232del
ENST00000683456.1:c.*299+2_*300del
ENST00000683522.1:n.3231+2_3232del
ENST00000683562.1:c.*1331+2_*1332del
ENST00000683693.1:n.3308+2_3309del
ENST00000683725.1:c.3162+2_3163del
ENST00000684010.1:n.3226+2_3227del
ENST00000684157.1:n.3231+2_3232del
ENST00000684253.1:n.3134+2_3135del
ENST00000684288.1:c.*1334+2_*1335del
ENST00000684313.1:n.2663+2_2664del
ENST00000684332.1:n.3304+2_3305del
ENST00000684371.1:n.3337+2_3338del
ENST00000684404.1:n.3274+2_3275del
ENST00000684442.1:n.3231+2_3232del
ENST00000684555.1:c.*1374+2_*1375del
ENST00000684571.1:c.3003+2_3004del
ENST00000684593.1:c.*2867+2_*2868del
ENST00000684711.1:c.*1558+2_*1559del
ENST00000302539.9:c.3165+2_3166del
ENST00000389817.8:c.3162+2_3163del
ENST00000642271.1:c.3159+2_3160del
ENST00000642579.1:c.1246+2_1247del
ENST00000642611.1:n.3116+2_3117del
ENST00000642902.1:c.2944+2_2945del
ENST00000643260.1:c.3162+2_3163del
ENST00000643562.1:c.*1138+2_*1139del
ENST00000643925.1:c.1286+2_1287del
ENST00000644447.1:c.1518+2_1519del
ENST00000644484.1:c.*1417+2_*1418del
ENST00000644542.1:c.*2869_*2967del ENSP00000495532.1:n.*2869_*2967del
ENST00000644675.1:c.*1334+2_*1335del
ENST00000644757.1:c.*1447+2_*1448del
ENST00000644772.1:c.3228+2_3229del
ENST00000645004.1:n.301+2_302del
ENST00000645076.1:c.2361+2_2362del
ENST00000645417.1:c.328+2_329del
ENST00000645744.1:c.*1426+2_*1427del
ENST00000645760.1:c.3437+2_3438del
ENST00000645884.1:c.*299+2_*300del
ENST00000646003.1:c.*1118+2_*1119del
ENST00000646207.1:c.*1629+2_*1630del
ENST00000646276.1:c.*1435+2_*1436del
ENST00000646592.1:c.2468+2_2469del
ENST00000646902.1:c.3159+2_3160del
ENST00000646993.1:c.*1558+2_*1559del
ENST00000647013.1:c.3168+2_3169del
ENST00000647015.1:c.2913+2_2914del
ENST00000647086.1:c.*2892+2_*2893del
ENST00000647158.1:c.*1303+2_*1304del
ENST00000302539.8:c.3165+2_3166del
ENST00000389817.7:c.3162+2_3163del
ENST00000524561.1:n.294+2_295del
ENST00000526921.5:n.846+2_847del
ENST00000527905.5:c.*38+2_*39del
NM_000352.4:c.3162+2_3163del
NM_001287174.1:c.3165+2_3166del
XM_011520331.1:c.3162+2_3163del
XM_011520332.1:c.3165+2_3166del
XM_011520333.1:c.1662+2_1663del
XR_930890.1:n.3228+2_3229del
XR_930891.1:n.3228+2_3229del
XR_930892.1:n.3128+2_3129del
XR_930893.1:n.3125+2_3126del
NM_001351295.1:c.3228+2_3229del
NM_001351296.1:c.3162+2_3163del
NM_001351297.1:c.3159+2_3160del
NR_147094.1:n.3311+2_3312del
XM_017018197.2:c.3231+2_3232del
XM_017018199.1:c.3228+2_3229del
XM_017018201.2:c.3231+2_3232del
XM_017018202.1:c.1728+2_1729del
XM_017018204.1:c.1119+2_1120del
XM_024448668.1:c.1530+2_1531del
XR_001747945.2:n.3303+2_3304del
XR_001747946.2:n.3234+2_3235del
XR_002957189.1:n.3383+2_3384del
NM_000352.6:c.3162+2_3163del
NM_001287174.2:c.3165+2_3166del
NM_001351295.2:c.3228+2_3229del
NM_001351296.2:c.3162+2_3163del
NM_001351297.2:c.3159+2_3160del
NR_147094.2:n.3311+2_3312del
NM_001287174.3:c.3165+2_3166del