Canonical Allele Identifier: CA1955122101
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393321_17393326delinsTCTCTC , CM000673.2:g.17393321_17393326delinsTCTCTC GRCh38
NC_000011.9:g.17414868_17414873delinsTCTCTC , CM000673.1:g.17414868_17414873delinsTCTCTC GRCh37
NC_000011.8:g.17371444_17371449delinsTCTCTC NCBI36
NG_008867.1:g.88577_88582delinsGAGAGA
NG_012446.1:g.334_339delinsGAGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4210-198_4210-193delinsGAGAGA
ENST00000526037.6:n.544-198_544-193delinsGAGAGA
ENST00000528374.2:c.1200-198_1200-193delinsGAGAGA
ENST00000529967.6:n.2948-198_2948-193delinsGAGAGA
ENST00000532220.2:n.3842-198_3842-193delinsGAGAGA
ENST00000642611.2:n.5942-198_5942-193delinsGAGAGA
ENST00000644057.2:n.1185-198_1185-193delinsGAGAGA
ENST00000645004.2:n.2108-198_2108-193delinsGAGAGA
ENST00000682051.1:n.4771-198_4771-193delinsGAGAGA
ENST00000682110.1:n.4824-198_4824-193delinsGAGAGA
ENST00000682140.1:c.*395-198_*395-193delinsGAGAGA ENSP00000507829.1:n.*395-198_*395-193delinsGAGAGA
ENST00000682185.1:n.5914-198_5914-193delinsGAGAGA
ENST00000682204.1:c.*2747-198_*2747-193delinsGAGAGA ENSP00000507094.1:n.*2747-198_*2747-193delinsGAGAGA
ENST00000682215.1:n.5191-198_5191-193delinsGAGAGA
ENST00000682288.1:c.*3040-198_*3040-193delinsGAGAGA ENSP00000507506.1:n.*3040-198_*3040-193delinsGAGAGA
ENST00000682442.1:n.5044-198_5044-193delinsGAGAGA
ENST00000682528.1:n.4901-198_4901-193delinsGAGAGA
ENST00000682673.1:n.4768-198_4768-193delinsGAGAGA
ENST00000682805.1:n.5229-198_5229-193delinsGAGAGA
ENST00000682965.1:c.*1031-198_*1031-193delinsGAGAGA ENSP00000508229.1:n.*1031-198_*1031-193delinsGAGAGA
ENST00000683093.1:n.5804-198_5804-193delinsGAGAGA
ENST00000683136.1:c.4492-198_4492-193delinsGAGAGA ENSP00000507768.1:n.4492-198_4492-193delinsGAGAGA
ENST00000683153.1:n.4866-198_4866-193delinsGAGAGA
ENST00000683365.1:n.4926-198_4926-193delinsGAGAGA
ENST00000683377.1:n.4720-198_4720-193delinsGAGAGA
ENST00000683456.1:c.*1746-198_*1746-193delinsGAGAGA ENSP00000508318.1:n.*1746-198_*1746-193delinsGAGAGA
ENST00000683522.1:n.4906-198_4906-193delinsGAGAGA
ENST00000683562.1:c.*2674-198_*2674-193delinsGAGAGA ENSP00000508265.1:n.*2674-198_*2674-193delinsGAGAGA
ENST00000683693.1:n.6285-198_6285-193delinsGAGAGA
ENST00000683725.1:c.*74-198_*74-193delinsGAGAGA ENSP00000507496.1:n.*74-198_*74-193delinsGAGAGA
ENST00000684010.1:n.4819-198_4819-193delinsGAGAGA
ENST00000684014.1:n.796-198_796-193delinsGAGAGA
ENST00000684157.1:n.5809-198_5809-193delinsGAGAGA
ENST00000684253.1:n.4727-198_4727-193delinsGAGAGA
ENST00000684288.1:c.*2781-198_*2781-193delinsGAGAGA ENSP00000507143.1:n.*2781-198_*2781-193delinsGAGAGA
ENST00000684313.1:n.4256-198_4256-193delinsGAGAGA
ENST00000684332.1:n.4897-198_4897-193delinsGAGAGA
ENST00000684371.1:n.4930-198_4930-193delinsGAGAGA
ENST00000684404.1:n.5852-198_5852-193delinsGAGAGA
ENST00000684442.1:n.5048-198_5048-193delinsGAGAGA
ENST00000684555.1:c.*2821-198_*2821-193delinsGAGAGA ENSP00000507705.1:n.*2821-198_*2821-193delinsGAGAGA
ENST00000684571.1:c.4450-198_4450-193delinsGAGAGA ENSP00000506935.1:n.4450-198_4450-193delinsGAGAGA
ENST00000684593.1:c.*4314-198_*4314-193delinsGAGAGA ENSP00000507005.1:n.*4314-198_*4314-193delinsGAGAGA
ENST00000684711.1:c.*3005-198_*3005-193delinsGAGAGA ENSP00000506841.1:n.*3005-198_*3005-193delinsGAGAGA
ENST00000302539.9:c.4612-198_4612-193delinsGAGAGA ENSP00000303960.4:n.4612-198_4612-193delinsGAGAGA
ENST00000389817.8:c.4609-198_4609-193delinsGAGAGA MANE Select ENSP00000374467.4:n.4609-198_4609-193delinsGAGAGA
ENST00000642271.1:c.4606-198_4606-193delinsGAGAGA ENSP00000493749.1:n.4606-198_4606-193delinsGAGAGA
ENST00000642579.1:c.2663-198_2663-193delinsGAGAGA
ENST00000642611.1:n.5827-198_5827-193delinsGAGAGA
ENST00000642902.1:c.4391-198_4391-193delinsGAGAGA
ENST00000643260.1:c.4609-198_4609-193delinsGAGAGA ENSP00000494450.1:n.4609-198_4609-193delinsGAGAGA
ENST00000643562.1:c.*2731-198_*2731-193delinsGAGAGA ENSP00000496124.1:n.*2731-198_*2731-193delinsGAGAGA
ENST00000643925.1:c.3186-198_3186-193delinsGAGAGA
ENST00000644057.1:n.768-198_768-193delinsGAGAGA
ENST00000644484.1:c.*3995-198_*3995-193delinsGAGAGA ENSP00000493558.1:n.*3995-198_*3995-193delinsGAGAGA
ENST00000644675.1:c.*2781-198_*2781-193delinsGAGAGA ENSP00000494567.1:n.*2781-198_*2781-193delinsGAGAGA
ENST00000644757.1:c.*3203-346_*3203-341delinsGAGAGA ENSP00000495085.1:n.*3203-346_*3203-341delinsGAGAGA
ENST00000644772.1:c.4675-198_4675-193delinsGAGAGA ENSP00000494321.1:n.4675-198_4675-193delinsGAGAGA
ENST00000645004.1:n.2302-198_2302-193delinsGAGAGA
ENST00000645076.1:c.3704-198_3704-193delinsGAGAGA
ENST00000645417.1:c.1797-198_1797-193delinsGAGAGA
ENST00000645744.1:c.*4294-198_*4294-193delinsGAGAGA ENSP00000494564.1:n.*4294-198_*4294-193delinsGAGAGA
ENST00000645760.1:c.5030-198_5030-193delinsGAGAGA
ENST00000645884.1:c.*1892-198_*1892-193delinsGAGAGA ENSP00000495516.1:n.*1892-198_*1892-193delinsGAGAGA
ENST00000646003.1:c.*2631-198_*2631-193delinsGAGAGA ENSP00000495259.1:n.*2631-198_*2631-193delinsGAGAGA
ENST00000646207.1:c.*3446-198_*3446-193delinsGAGAGA ENSP00000495025.1:n.*3446-198_*3446-193delinsGAGAGA
ENST00000646276.1:c.*4013-198_*4013-193delinsGAGAGA ENSP00000496070.1:n.*4013-198_*4013-193delinsGAGAGA
ENST00000646592.1:c.3915-198_3915-193delinsGAGAGA
ENST00000646902.1:c.4576-198_4576-193delinsGAGAGA ENSP00000494101.1:n.4576-198_4576-193delinsGAGAGA
ENST00000646993.1:c.*3047-198_*3047-193delinsGAGAGA ENSP00000493720.1:n.*3047-198_*3047-193delinsGAGAGA
ENST00000647015.1:c.4360-198_4360-193delinsGAGAGA ENSP00000495389.1:n.4360-198_4360-193delinsGAGAGA
ENST00000647086.1:c.*4195-198_*4195-193delinsGAGAGA ENSP00000493677.1:n.*4195-198_*4195-193delinsGAGAGA
ENST00000647158.1:c.*2896-198_*2896-193delinsGAGAGA ENSP00000495744.1:n.*2896-198_*2896-193delinsGAGAGA
ENST00000302539.8:c.4612-198_4612-193delinsGAGAGA ENSP00000303960.4:n.4612-198_4612-193delinsGAGAGA
ENST00000389817.7:c.4609-198_4609-193delinsGAGAGA ENSP00000374467.3:n.4609-198_4609-193delinsGAGAGA
ENST00000525022.1:n.504-114_504-109delinsGAGAGA
ENST00000526037.5:n.369-198_369-193delinsGAGAGA
ENST00000526168.5:c.397-198_397-193delinsGAGAGA
ENST00000531642.5:c.640-198_640-193delinsGAGAGA
NM_000352.4:c.4609-198_4609-193delinsGAGAGA NP_000343.2:n.4609-198_4609-193delinsGAGAGA
NM_001287174.1:c.4612-198_4612-193delinsGAGAGA NP_001274103.1:n.4612-198_4612-193delinsGAGAGA
XM_011520331.1:c.4609-198_4609-193delinsGAGAGA XP_011518633.1:n.4609-198_4609-193delinsGAGAGA
XM_011520333.1:c.3109-198_3109-193delinsGAGAGA XP_011518635.1:n.3109-198_3109-193delinsGAGAGA
XR_930890.1:n.4571-198_4571-193delinsGAGAGA
NM_001351295.1:c.4675-198_4675-193delinsGAGAGA NP_001338224.1:n.4675-198_4675-193delinsGAGAGA
NM_001351296.1:c.4609-198_4609-193delinsGAGAGA NP_001338225.1:n.4609-198_4609-193delinsGAGAGA
NM_001351297.1:c.4606-198_4606-193delinsGAGAGA NP_001338226.1:n.4606-198_4606-193delinsGAGAGA
NR_147094.1:n.4904-198_4904-193delinsGAGAGA
XM_017018197.2:c.4678-198_4678-193delinsGAGAGA XP_016873686.1:n.4678-198_4678-193delinsGAGAGA
XM_017018199.1:c.4675-198_4675-193delinsGAGAGA XP_016873688.1:n.4675-198_4675-193delinsGAGAGA
XM_017018202.1:c.3175-198_3175-193delinsGAGAGA XP_016873691.1:n.3175-198_3175-193delinsGAGAGA
XM_017018204.1:c.2566-198_2566-193delinsGAGAGA XP_016873693.1:n.2566-198_2566-193delinsGAGAGA
XM_024448668.1:c.2977-198_2977-193delinsGAGAGA XP_024304436.1:n.2977-198_2977-193delinsGAGAGA
XR_001747945.2:n.4646-198_4646-193delinsGAGAGA
XR_001747946.2:n.4577-198_4577-193delinsGAGAGA
XR_002957189.1:n.6360-198_6360-193delinsGAGAGA
NM_000352.6:c.4609-198_4609-193delinsGAGAGA MANE Select NP_000343.2:n.4609-198_4609-193delinsGAGAGA
NM_001287174.2:c.4612-198_4612-193delinsGAGAGA NP_001274103.1:n.4612-198_4612-193delinsGAGAGA
NM_001351295.2:c.4675-198_4675-193delinsGAGAGA NP_001338224.1:n.4675-198_4675-193delinsGAGAGA
NM_001351296.2:c.4609-198_4609-193delinsGAGAGA NP_001338225.1:n.4609-198_4609-193delinsGAGAGA
NM_001351297.2:c.4606-198_4606-193delinsGAGAGA NP_001338226.1:n.4606-198_4606-193delinsGAGAGA
NR_147094.2:n.4904-198_4904-193delinsGAGAGA
NM_001287174.3:c.4612-198_4612-193delinsGAGAGA NP_001274103.1:n.4612-198_4612-193delinsGAGAGA