Canonical Allele Identifier: CA1955122483
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17394135_17394136delinsAT , CM000673.2:g.17394135_17394136delinsAT GRCh38
NC_000011.9:g.17415682_17415683delinsAT , CM000673.1:g.17415682_17415683delinsAT GRCh37
NC_000011.8:g.17372258_17372259delinsAT NCBI36
NG_008867.1:g.87767_87768delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4146+130_4146+131delinsAT
ENST00000526037.6:n.480+130_480+131delinsAT
ENST00000528374.2:c.1136+130_1136+131delinsAT
ENST00000529967.6:n.2884+130_2884+131delinsAT
ENST00000532220.2:n.3778+130_3778+131delinsAT
ENST00000642611.2:n.5878+130_5878+131delinsAT
ENST00000644057.2:n.1121+130_1121+131delinsAT
ENST00000645004.2:n.2044+130_2044+131delinsAT
ENST00000682051.1:n.4707+130_4707+131delinsAT
ENST00000682110.1:n.4760+130_4760+131delinsAT
ENST00000682140.1:c.*331+130_*331+131delinsAT ENSP00000507829.1:n.*331+130_*331+131delinsAT
ENST00000682185.1:n.5850+130_5850+131delinsAT
ENST00000682204.1:c.*2683+130_*2683+131delinsAT ENSP00000507094.1:n.*2683+130_*2683+131delinsAT
ENST00000682215.1:n.5127+130_5127+131delinsAT
ENST00000682288.1:c.*2976+130_*2976+131delinsAT ENSP00000507506.1:n.*2976+130_*2976+131delinsAT
ENST00000682442.1:n.4980+130_4980+131delinsAT
ENST00000682528.1:n.4837+130_4837+131delinsAT
ENST00000682673.1:n.4704+130_4704+131delinsAT
ENST00000682805.1:n.5165+130_5165+131delinsAT
ENST00000682965.1:c.*967+130_*967+131delinsAT ENSP00000508229.1:n.*967+130_*967+131delinsAT
ENST00000683093.1:n.5740+130_5740+131delinsAT
ENST00000683136.1:c.4428+130_4428+131delinsAT ENSP00000507768.1:n.4428+130_4428+131delinsAT
ENST00000683153.1:n.4802+130_4802+131delinsAT
ENST00000683365.1:n.4862+130_4862+131delinsAT
ENST00000683377.1:n.4656+130_4656+131delinsAT
ENST00000683456.1:c.*1682+130_*1682+131delinsAT ENSP00000508318.1:n.*1682+130_*1682+131delinsAT
ENST00000683522.1:n.4842+130_4842+131delinsAT
ENST00000683562.1:c.*2610+130_*2610+131delinsAT ENSP00000508265.1:n.*2610+130_*2610+131delinsAT
ENST00000683693.1:n.6221+130_6221+131delinsAT
ENST00000683725.1:c.*10+130_*10+131delinsAT ENSP00000507496.1:n.*10+130_*10+131delinsAT
ENST00000684010.1:n.4755+130_4755+131delinsAT
ENST00000684014.1:n.732+130_732+131delinsAT
ENST00000684157.1:n.5745+130_5745+131delinsAT
ENST00000684253.1:n.4663+130_4663+131delinsAT
ENST00000684288.1:c.*2717+130_*2717+131delinsAT ENSP00000507143.1:n.*2717+130_*2717+131delinsAT
ENST00000684313.1:n.4192+130_4192+131delinsAT
ENST00000684332.1:n.4833+130_4833+131delinsAT
ENST00000684371.1:n.4866+130_4866+131delinsAT
ENST00000684404.1:n.5788+130_5788+131delinsAT
ENST00000684442.1:n.4984+130_4984+131delinsAT
ENST00000684555.1:c.*2757+130_*2757+131delinsAT ENSP00000507705.1:n.*2757+130_*2757+131delinsAT
ENST00000684571.1:c.4386+130_4386+131delinsAT ENSP00000506935.1:n.4386+130_4386+131delinsAT
ENST00000684593.1:c.*4250+130_*4250+131delinsAT ENSP00000507005.1:n.*4250+130_*4250+131delinsAT
ENST00000684711.1:c.*2941+130_*2941+131delinsAT ENSP00000506841.1:n.*2941+130_*2941+131delinsAT
ENST00000302539.9:c.4548+130_4548+131delinsAT ENSP00000303960.4:n.4548+130_4548+131delinsAT
ENST00000389817.8:c.4545+130_4545+131delinsAT MANE Select ENSP00000374467.4:n.4545+130_4545+131delinsAT
ENST00000642271.1:c.4542+130_4542+131delinsAT ENSP00000493749.1:n.4542+130_4542+131delinsAT
ENST00000642579.1:c.2599+130_2599+131delinsAT
ENST00000642611.1:n.5763+130_5763+131delinsAT
ENST00000642902.1:c.4327+130_4327+131delinsAT
ENST00000643260.1:c.4545+130_4545+131delinsAT ENSP00000494450.1:n.4545+130_4545+131delinsAT
ENST00000643562.1:c.*2667+130_*2667+131delinsAT ENSP00000496124.1:n.*2667+130_*2667+131delinsAT
ENST00000643925.1:c.3185+130_3185+131delinsAT
ENST00000644057.1:n.704+130_704+131delinsAT
ENST00000644484.1:c.*3931+130_*3931+131delinsAT ENSP00000493558.1:n.*3931+130_*3931+131delinsAT
ENST00000644675.1:c.*2717+130_*2717+131delinsAT ENSP00000494567.1:n.*2717+130_*2717+131delinsAT
ENST00000644757.1:c.*3203-1156_*3203-1155delinsAT ENSP00000495085.1:n.*3203-1156_*3203-1155delinsAT
ENST00000644772.1:c.4611+130_4611+131delinsAT ENSP00000494321.1:n.4611+130_4611+131delinsAT
ENST00000645004.1:n.2238+130_2238+131delinsAT
ENST00000645076.1:c.3640+130_3640+131delinsAT
ENST00000645417.1:c.1733+130_1733+131delinsAT
ENST00000645744.1:c.*4230+130_*4230+131delinsAT ENSP00000494564.1:n.*4230+130_*4230+131delinsAT
ENST00000645760.1:c.4966+130_4966+131delinsAT
ENST00000645884.1:c.*1828+130_*1828+131delinsAT ENSP00000495516.1:n.*1828+130_*1828+131delinsAT
ENST00000646003.1:c.*2567+130_*2567+131delinsAT ENSP00000495259.1:n.*2567+130_*2567+131delinsAT
ENST00000646207.1:c.*3382+130_*3382+131delinsAT ENSP00000495025.1:n.*3382+130_*3382+131delinsAT
ENST00000646276.1:c.*3949+130_*3949+131delinsAT ENSP00000496070.1:n.*3949+130_*3949+131delinsAT
ENST00000646592.1:c.3851+130_3851+131delinsAT
ENST00000646902.1:c.4512+130_4512+131delinsAT ENSP00000494101.1:n.4512+130_4512+131delinsAT
ENST00000646993.1:c.*2983+130_*2983+131delinsAT ENSP00000493720.1:n.*2983+130_*2983+131delinsAT
ENST00000647015.1:c.4296+130_4296+131delinsAT ENSP00000495389.1:n.4296+130_4296+131delinsAT
ENST00000647086.1:c.*4131+130_*4131+131delinsAT ENSP00000493677.1:n.*4131+130_*4131+131delinsAT
ENST00000647158.1:c.*2832+130_*2832+131delinsAT ENSP00000495744.1:n.*2832+130_*2832+131delinsAT
ENST00000302539.8:c.4548+130_4548+131delinsAT ENSP00000303960.4:n.4548+130_4548+131delinsAT
ENST00000389817.7:c.4545+130_4545+131delinsAT ENSP00000374467.3:n.4545+130_4545+131delinsAT
ENST00000525022.1:n.440+130_440+131delinsAT
ENST00000526037.5:n.305+130_305+131delinsAT
ENST00000526168.5:c.333+130_333+131delinsAT
ENST00000531642.5:c.576+130_576+131delinsAT
NM_000352.4:c.4545+130_4545+131delinsAT NP_000343.2:n.4545+130_4545+131delinsAT
NM_001287174.1:c.4548+130_4548+131delinsAT NP_001274103.1:n.4548+130_4548+131delinsAT
XM_011520331.1:c.4545+130_4545+131delinsAT XP_011518633.1:n.4545+130_4545+131delinsAT
XM_011520333.1:c.3045+130_3045+131delinsAT XP_011518635.1:n.3045+130_3045+131delinsAT
XR_930890.1:n.4507+130_4507+131delinsAT
NM_001351295.1:c.4611+130_4611+131delinsAT NP_001338224.1:n.4611+130_4611+131delinsAT
NM_001351296.1:c.4545+130_4545+131delinsAT NP_001338225.1:n.4545+130_4545+131delinsAT
NM_001351297.1:c.4542+130_4542+131delinsAT NP_001338226.1:n.4542+130_4542+131delinsAT
NR_147094.1:n.4840+130_4840+131delinsAT
XM_017018197.2:c.4614+130_4614+131delinsAT XP_016873686.1:n.4614+130_4614+131delinsAT
XM_017018199.1:c.4611+130_4611+131delinsAT XP_016873688.1:n.4611+130_4611+131delinsAT
XM_017018202.1:c.3111+130_3111+131delinsAT XP_016873691.1:n.3111+130_3111+131delinsAT
XM_017018204.1:c.2502+130_2502+131delinsAT XP_016873693.1:n.2502+130_2502+131delinsAT
XM_024448668.1:c.2913+130_2913+131delinsAT XP_024304436.1:n.2913+130_2913+131delinsAT
XR_001747945.2:n.4582+130_4582+131delinsAT
XR_001747946.2:n.4513+130_4513+131delinsAT
XR_002957189.1:n.6296+130_6296+131delinsAT
NM_000352.6:c.4545+130_4545+131delinsAT MANE Select NP_000343.2:n.4545+130_4545+131delinsAT
NM_001287174.2:c.4548+130_4548+131delinsAT NP_001274103.1:n.4548+130_4548+131delinsAT
NM_001351295.2:c.4611+130_4611+131delinsAT NP_001338224.1:n.4611+130_4611+131delinsAT
NM_001351296.2:c.4545+130_4545+131delinsAT NP_001338225.1:n.4545+130_4545+131delinsAT
NM_001351297.2:c.4542+130_4542+131delinsAT NP_001338226.1:n.4542+130_4542+131delinsAT
NR_147094.2:n.4840+130_4840+131delinsAT
NM_001287174.3:c.4548+130_4548+131delinsAT NP_001274103.1:n.4548+130_4548+131delinsAT