Canonical Allele Identifier: CA1955123365
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395909_17395912delinsCGGT , CM000673.2:g.17395909_17395912delinsCGGT GRCh38
NC_000011.9:g.17417456_17417459delinsCGGT , CM000673.1:g.17417456_17417459delinsCGGT GRCh37
NC_000011.8:g.17374032_17374035delinsCGGT NCBI36
NG_008867.1:g.85991_85994delinsACCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3739_3742delinsACCG
ENST00000528374.2:c.729_732delinsACCG
ENST00000529967.6:n.2477_2480delinsACCG
ENST00000532220.2:n.3371_3374delinsACCG
ENST00000642611.2:n.5338_5341delinsACCG
ENST00000644057.2:n.581_584delinsACCG
ENST00000645004.2:n.1637_1640delinsACCG
ENST00000682051.1:n.4300_4303delinsACCG
ENST00000682110.1:n.4353_4356delinsACCG
ENST00000682140.1:c.4004_4007delinsACCG ENSP00000507829.1:p.His1335=
ENST00000682185.1:n.5443_5446delinsACCG
ENST00000682204.1:c.*2276_*2279delinsACCG ENSP00000507094.1:n.*2276_*2279delinsACCG
ENST00000682215.1:n.4720_4723delinsACCG
ENST00000682288.1:c.*2569_*2572delinsACCG ENSP00000507506.1:n.*2569_*2572delinsACCG
ENST00000682442.1:n.4573_4576delinsACCG
ENST00000682528.1:n.4430_4433delinsACCG
ENST00000682673.1:n.4297_4300delinsACCG
ENST00000682805.1:n.4758_4761delinsACCG
ENST00000682965.1:c.*560_*563delinsACCG ENSP00000508229.1:n.*560_*563delinsACCG
ENST00000683093.1:n.5437_5440delinsACCG
ENST00000683136.1:c.4021_4024delinsACCG ENSP00000507768.1:p.Thr1341=
ENST00000683153.1:n.4395_4398delinsACCG
ENST00000683365.1:n.4455_4458delinsACCG
ENST00000683377.1:n.4353_4356delinsACCG
ENST00000683456.1:c.*1275_*1278delinsACCG ENSP00000508318.1:n.*1275_*1278delinsACCG
ENST00000683522.1:n.4353_4356delinsACCG
ENST00000683562.1:c.*2307_*2310delinsACCG ENSP00000508265.1:n.*2307_*2310delinsACCG
ENST00000683693.1:n.5785_5788delinsACCG
ENST00000683725.1:c.4138_4141delinsACCG ENSP00000507496.1:p.Thr1380=
ENST00000684010.1:n.4348_4351delinsACCG
ENST00000684157.1:n.5338_5341delinsACCG
ENST00000684253.1:n.4256_4259delinsACCG
ENST00000684288.1:c.*2310_*2313delinsACCG ENSP00000507143.1:n.*2310_*2313delinsACCG
ENST00000684313.1:n.3785_3788delinsACCG
ENST00000684332.1:n.4426_4429delinsACCG
ENST00000684371.1:n.4459_4462delinsACCG
ENST00000684404.1:n.5381_5384delinsACCG
ENST00000684442.1:n.4577_4580delinsACCG
ENST00000684555.1:c.*2350_*2353delinsACCG ENSP00000507705.1:n.*2350_*2353delinsACCG
ENST00000684571.1:c.3979_3982delinsACCG ENSP00000506935.1:p.Thr1327=
ENST00000684593.1:c.*3843_*3846delinsACCG ENSP00000507005.1:n.*3843_*3846delinsACCG
ENST00000684711.1:c.*2534_*2537delinsACCG ENSP00000506841.1:n.*2534_*2537delinsACCG
ENST00000302539.9:c.4141_4144delinsACCG ENSP00000303960.4:p.Thr1381=
ENST00000389817.8:c.4138_4141delinsACCG MANE Select ENSP00000374467.4:p.Thr1380=
ENST00000642271.1:c.4135_4138delinsACCG ENSP00000493749.1:p.Thr1379=
ENST00000642579.1:c.2192_2195delinsACCG
ENST00000642611.1:n.5223_5226delinsACCG
ENST00000642902.1:c.3920_3923delinsACCG
ENST00000643260.1:c.4138_4141delinsACCG ENSP00000494450.1:p.Thr1380=
ENST00000643562.1:c.*2260_*2263delinsACCG ENSP00000496124.1:n.*2260_*2263delinsACCG
ENST00000643925.1:c.2778_2781delinsACCG
ENST00000644057.1:n.215_218delinsACCG
ENST00000644484.1:c.*3524_*3527delinsACCG ENSP00000493558.1:n.*3524_*3527delinsACCG
ENST00000644675.1:c.*2310_*2313delinsACCG ENSP00000494567.1:n.*2310_*2313delinsACCG
ENST00000644757.1:c.*3202+352_*3202+355delinsACCG ENSP00000495085.1:n.*3202+352_*3202+355delinsACCG
ENST00000644772.1:c.4204_4207delinsACCG ENSP00000494321.1:p.Thr1402=
ENST00000645004.1:n.1831_1834delinsACCG
ENST00000645076.1:c.3337_3340delinsACCG
ENST00000645417.1:c.1326_1329delinsACCG
ENST00000645744.1:c.*3903_*3906delinsACCG ENSP00000494564.1:n.*3903_*3906delinsACCG
ENST00000645760.1:c.4559_4562delinsACCG
ENST00000645884.1:c.*1421_*1424delinsACCG ENSP00000495516.1:n.*1421_*1424delinsACCG
ENST00000646003.1:c.*2240_*2243delinsACCG ENSP00000495259.1:n.*2240_*2243delinsACCG
ENST00000646207.1:c.*2975_*2978delinsACCG ENSP00000495025.1:n.*2975_*2978delinsACCG
ENST00000646276.1:c.*3542_*3545delinsACCG ENSP00000496070.1:n.*3542_*3545delinsACCG
ENST00000646592.1:c.3444_3447delinsACCG
ENST00000646902.1:c.4105_4108delinsACCG ENSP00000494101.1:p.Thr1369=
ENST00000646993.1:c.*2680_*2683delinsACCG ENSP00000493720.1:n.*2680_*2683delinsACCG
ENST00000647013.1:c.4144_4147delinsACCG ENSP00000496741.1:n.4144_4147delinsACCG
ENST00000647015.1:c.3889_3892delinsACCG ENSP00000495389.1:p.Thr1297=
ENST00000647086.1:c.*3724_*3727delinsACCG ENSP00000493677.1:n.*3724_*3727delinsACCG
ENST00000647158.1:c.*2425_*2428delinsACCG ENSP00000495744.1:n.*2425_*2428delinsACCG
ENST00000302539.8:c.4141_4144delinsACCG ENSP00000303960.4:p.Thr1381=
ENST00000389817.7:c.4138_4141delinsACCG ENSP00000374467.3:p.Thr1380=
ENST00000525022.1:n.4_7delinsACCG
ENST00000526168.5:c.6_9delinsACCG
NM_000352.4:c.4138_4141delinsACCG NP_000343.2:p.Thr1380=
NM_001287174.1:c.4141_4144delinsACCG NP_001274103.1:p.Thr1381=
XM_011520331.1:c.4138_4141delinsACCG XP_011518633.1:p.Thr1380=
XM_011520332.1:c.4141_4144delinsACCG XP_011518634.1:p.Thr1381=
XM_011520333.1:c.2638_2641delinsACCG XP_011518635.1:p.Thr880=
XR_930890.1:n.4204_4207delinsACCG
NM_001351295.1:c.4204_4207delinsACCG NP_001338224.1:p.Thr1402=
NM_001351296.1:c.4138_4141delinsACCG NP_001338225.1:p.Thr1380=
NM_001351297.1:c.4135_4138delinsACCG NP_001338226.1:p.Thr1379=
NR_147094.1:n.4433_4436delinsACCG
XM_017018197.2:c.4207_4210delinsACCG XP_016873686.1:p.Thr1403=
XM_017018199.1:c.4204_4207delinsACCG XP_016873688.1:p.Thr1402=
XM_017018201.2:c.4207_4210delinsACCG XP_016873690.1:p.Thr1403=
XM_017018202.1:c.2704_2707delinsACCG XP_016873691.1:p.Thr902=
XM_017018204.1:c.2095_2098delinsACCG XP_016873693.1:p.Thr699=
XM_024448668.1:c.2506_2509delinsACCG XP_024304436.1:p.Thr836=
XR_001747945.2:n.4279_4282delinsACCG
XR_001747946.2:n.4210_4213delinsACCG
XR_002957189.1:n.5860_5863delinsACCG
NM_000352.6:c.4138_4141delinsACCG MANE Select NP_000343.2:p.Thr1380=
NM_001287174.2:c.4141_4144delinsACCG NP_001274103.1:p.Thr1381=
NM_001351295.2:c.4204_4207delinsACCG NP_001338224.1:p.Thr1402=
NM_001351296.2:c.4138_4141delinsACCG NP_001338225.1:p.Thr1380=
NM_001351297.2:c.4135_4138delinsACCG NP_001338226.1:p.Thr1379=
NR_147094.2:n.4433_4436delinsACCG
NM_001287174.3:c.4141_4144delinsACCG NP_001274103.1:p.Thr1381=