Canonical Allele Identifier: CA658822169
Community Standard Title: NM_000352.6(ABCC8):c.4117_4119del (p.Lys1373del)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396918_17396920del , CM000673.2:g.17396918_17396920del GRCh38
NC_000011.9:g.17418465_17418467del , CM000673.1:g.17418465_17418467del GRCh37
NC_000011.8:g.17375041_17375043del NCBI36
NG_008867.1:g.84985_84987del

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4117_4119del MANE Select NP_000343.2:p.Lys1373del
ENST00000389817.8:c.4117_4119del MANE Select ENSP00000374467.4:p.Lys1373del
NM_000352.4:c.4117_4119del NP_000343.2:p.Lys1373del
NM_001287174.1:c.4120_4122del NP_001274103.1:p.Lys1374del
NM_001287174.2:c.4120_4122del NP_001274103.1:p.Lys1374del
NM_001287174.3:c.4120_4122del NP_001274103.1:p.Lys1374del
NM_001351295.1:c.4183_4185del NP_001338224.1:p.Lys1395del
NM_001351295.2:c.4183_4185del NP_001338224.1:p.Lys1395del
NM_001351296.1:c.4117_4119del NP_001338225.1:p.Lys1373del
NM_001351296.2:c.4117_4119del NP_001338225.1:p.Lys1373del
NM_001351297.1:c.4114_4116del NP_001338226.1:p.Lys1372del
NM_001351297.2:c.4114_4116del NP_001338226.1:p.Lys1372del
NR_147094.1:n.4412_4414del
NR_147094.2:n.4412_4414del
ENST00000302539.8:c.4120_4122del ENSP00000303960.4:p.Lys1374del
ENST00000302539.9:c.4120_4122del ENSP00000303960.4:p.Lys1374del
ENST00000389817.7:c.4117_4119del ENSP00000374467.3:p.Lys1373del
ENST00000524561.2:n.3718_3720del
ENST00000527905.5:c.*1139_*1141del ENSP00000431653.1:n.*1139_*1141del
ENST00000528374.1:c.599_601del
ENST00000528374.2:c.708_710del
ENST00000529967.6:n.2456_2458del
ENST00000532220.1:n.591_593del
ENST00000532220.2:n.2365_2367del
ENST00000642271.1:c.4114_4116del ENSP00000493749.1:p.Lys1372del
ENST00000642579.1:c.2171_2173del
ENST00000642611.1:n.4217_4219del
ENST00000642611.2:n.4332_4334del
ENST00000642902.1:c.3899_3901del
ENST00000643260.1:c.4117_4119del ENSP00000494450.1:p.Lys1373del
ENST00000643562.1:c.*2239_*2241del ENSP00000496124.1:n.*2239_*2241del
ENST00000643925.1:c.2757_2759del
ENST00000644057.1:n.194_196del
ENST00000644057.2:n.560_562del
ENST00000644484.1:c.*2518_*2520del ENSP00000493558.1:n.*2518_*2520del
ENST00000644675.1:c.*2289_*2291del ENSP00000494567.1:n.*2289_*2291del
ENST00000644757.1:c.*2548_*2550del ENSP00000495085.1:n.*2548_*2550del
ENST00000644772.1:c.4183_4185del ENSP00000494321.1:p.Lys1395del
ENST00000645004.1:n.1772_1774del
ENST00000645004.2:n.1616_1618del
ENST00000645076.1:c.3316_3318del
ENST00000645417.1:c.1305_1307del
ENST00000645744.1:c.*2897_*2899del ENSP00000494564.1:n.*2897_*2899del
ENST00000645760.1:c.4538_4540del
ENST00000645884.1:c.*1400_*1402del ENSP00000495516.1:n.*1400_*1402del
ENST00000646003.1:c.*2219_*2221del ENSP00000495259.1:n.*2219_*2221del
ENST00000646207.1:c.*2954_*2956del ENSP00000495025.1:n.*2954_*2956del
ENST00000646276.1:c.*2536_*2538del ENSP00000496070.1:n.*2536_*2538del
ENST00000646592.1:c.3423_3425del
ENST00000646902.1:c.4084_4086del ENSP00000494101.1:p.Lys1362del
ENST00000646993.1:c.*2659_*2661del ENSP00000493720.1:n.*2659_*2661del
ENST00000647013.1:c.4123_4125del ENSP00000496741.1:n.4123_4125del
ENST00000647015.1:c.3868_3870del ENSP00000495389.1:p.Lys1290del
ENST00000647086.1:c.*3703_*3705del ENSP00000493677.1:n.*3703_*3705del
ENST00000647158.1:c.*2404_*2406del ENSP00000495744.1:n.*2404_*2406del
ENST00000682051.1:n.4279_4281del
ENST00000682110.1:n.4332_4334del
ENST00000682140.1:c.3985+275_3985+277del ENSP00000507829.1:n.3985+275_3985+277del
ENST00000682185.1:n.5422_5424del
ENST00000682204.1:c.*2255_*2257del ENSP00000507094.1:n.*2255_*2257del
ENST00000682215.1:n.4699_4701del
ENST00000682288.1:c.*2548_*2550del ENSP00000507506.1:n.*2548_*2550del
ENST00000682442.1:n.4552_4554del
ENST00000682528.1:n.4409_4411del
ENST00000682673.1:n.4276_4278del
ENST00000682805.1:n.4699_4701del
ENST00000682965.1:c.*539_*541del ENSP00000508229.1:n.*539_*541del
ENST00000683093.1:n.4431_4433del
ENST00000683136.1:c.4000_4002del ENSP00000507768.1:p.Lys1334del
ENST00000683153.1:n.4374_4376del
ENST00000683365.1:n.4434_4436del
ENST00000683377.1:n.4332_4334del
ENST00000683456.1:c.*1254_*1256del ENSP00000508318.1:n.*1254_*1256del
ENST00000683522.1:n.4332_4334del
ENST00000683562.1:c.*2286_*2288del ENSP00000508265.1:n.*2286_*2288del
ENST00000683693.1:n.4779_4781del
ENST00000683725.1:c.4117_4119del ENSP00000507496.1:p.Lys1373del
ENST00000684010.1:n.4327_4329del
ENST00000684157.1:n.4332_4334del
ENST00000684253.1:n.4235_4237del
ENST00000684288.1:c.*2289_*2291del ENSP00000507143.1:n.*2289_*2291del
ENST00000684313.1:n.3764_3766del
ENST00000684332.1:n.4405_4407del
ENST00000684371.1:n.4438_4440del
ENST00000684404.1:n.4375_4377del
ENST00000684442.1:n.4556_4558del
ENST00000684555.1:c.*2329_*2331del ENSP00000507705.1:n.*2329_*2331del
ENST00000684571.1:c.3958_3960del ENSP00000506935.1:p.Lys1320del
ENST00000684593.1:c.*3822_*3824del ENSP00000507005.1:n.*3822_*3824del
ENST00000684711.1:c.*2513_*2515del ENSP00000506841.1:n.*2513_*2515del
XM_011520331.1:c.4117_4119del XP_011518633.1:p.Lys1373del
XM_011520332.1:c.4120_4122del XP_011518634.1:p.Lys1374del
XM_011520333.1:c.2617_2619del XP_011518635.1:p.Lys873del
XM_017018197.2:c.4186_4188del XP_016873686.1:p.Lys1396del
XM_017018199.1:c.4183_4185del XP_016873688.1:p.Lys1395del
XM_017018201.2:c.4186_4188del XP_016873690.1:p.Lys1396del
XM_017018202.1:c.2683_2685del XP_016873691.1:p.Lys895del
XM_017018204.1:c.2074_2076del XP_016873693.1:p.Lys692del
XM_024448668.1:c.2485_2487del XP_024304436.1:p.Lys829del
XR_001747945.2:n.4258_4260del
XR_001747946.2:n.4189_4191del
XR_002957189.1:n.4854_4856del
XR_930890.1:n.4183_4185del