Canonical Allele Identifier: CA1955123984
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397107_17397108delinsAC , CM000673.2:g.17397107_17397108delinsAC GRCh38
NC_000011.9:g.17418654_17418655delinsAC , CM000673.1:g.17418654_17418655delinsAC GRCh37
NC_000011.8:g.17375230_17375231delinsAC NCBI36
NG_008867.1:g.84795_84796delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3528_3529delinsGT
ENST00000528374.2:c.568-50_568-49delinsGT
ENST00000529967.6:n.2328-62_2328-61delinsGT
ENST00000532220.2:n.2175_2176delinsGT
ENST00000642611.2:n.4142_4143delinsGT
ENST00000644057.2:n.432-62_432-61delinsGT
ENST00000645004.2:n.1488-62_1488-61delinsGT
ENST00000682051.1:n.4089_4090delinsGT
ENST00000682110.1:n.4142_4143delinsGT
ENST00000682140.1:c.3985+85_3985+86delinsGT ENSP00000507829.1:n.3985+85_3985+86delinsGT
ENST00000682185.1:n.5294-62_5294-61delinsGT
ENST00000682204.1:c.*2127-62_*2127-61delinsGT ENSP00000507094.1:n.*2127-62_*2127-61delinsGT
ENST00000682215.1:n.4509_4510delinsGT
ENST00000682288.1:c.*2420-62_*2420-61delinsGT ENSP00000507506.1:n.*2420-62_*2420-61delinsGT
ENST00000682442.1:n.4362_4363delinsGT
ENST00000682528.1:n.4219_4220delinsGT
ENST00000682673.1:n.4086_4087delinsGT
ENST00000682805.1:n.4509_4510delinsGT
ENST00000682965.1:c.*411-62_*411-61delinsGT ENSP00000508229.1:n.*411-62_*411-61delinsGT
ENST00000683093.1:n.4241_4242delinsGT
ENST00000683136.1:c.3872-62_3872-61delinsGT ENSP00000507768.1:n.3872-62_3872-61delinsGT
ENST00000683153.1:n.4184_4185delinsGT
ENST00000683365.1:n.4244_4245delinsGT
ENST00000683377.1:n.4142_4143delinsGT
ENST00000683456.1:c.*1126-62_*1126-61delinsGT ENSP00000508318.1:n.*1126-62_*1126-61delinsGT
ENST00000683522.1:n.4142_4143delinsGT
ENST00000683562.1:c.*2158-62_*2158-61delinsGT ENSP00000508265.1:n.*2158-62_*2158-61delinsGT
ENST00000683693.1:n.4589_4590delinsGT
ENST00000683725.1:c.3989-62_3989-61delinsGT ENSP00000507496.1:n.3989-62_3989-61delinsGT
ENST00000684010.1:n.4137_4138delinsGT
ENST00000684157.1:n.4142_4143delinsGT
ENST00000684253.1:n.4045_4046delinsGT
ENST00000684288.1:c.*2161-62_*2161-61delinsGT ENSP00000507143.1:n.*2161-62_*2161-61delinsGT
ENST00000684313.1:n.3574_3575delinsGT
ENST00000684332.1:n.4215_4216delinsGT
ENST00000684371.1:n.4248_4249delinsGT
ENST00000684404.1:n.4185_4186delinsGT
ENST00000684442.1:n.4428-62_4428-61delinsGT
ENST00000684555.1:c.*2201-62_*2201-61delinsGT ENSP00000507705.1:n.*2201-62_*2201-61delinsGT
ENST00000684571.1:c.3830-62_3830-61delinsGT ENSP00000506935.1:n.3830-62_3830-61delinsGT
ENST00000684593.1:c.*3694-62_*3694-61delinsGT ENSP00000507005.1:n.*3694-62_*3694-61delinsGT
ENST00000684711.1:c.*2385-62_*2385-61delinsGT ENSP00000506841.1:n.*2385-62_*2385-61delinsGT
ENST00000302539.9:c.3992-62_3992-61delinsGT ENSP00000303960.4:n.3992-62_3992-61delinsGT
ENST00000389817.8:c.3989-62_3989-61delinsGT MANE Select ENSP00000374467.4:n.3989-62_3989-61delinsGT
ENST00000642271.1:c.3986-62_3986-61delinsGT ENSP00000493749.1:n.3986-62_3986-61delinsGT
ENST00000642579.1:c.2072+85_2072+86delinsGT
ENST00000642611.1:n.4027_4028delinsGT
ENST00000642902.1:c.3771-62_3771-61delinsGT
ENST00000643260.1:c.3989-62_3989-61delinsGT ENSP00000494450.1:n.3989-62_3989-61delinsGT
ENST00000643562.1:c.*2049_*2050delinsGT ENSP00000496124.1:n.*2049_*2050delinsGT
ENST00000643925.1:c.2567_2568delinsGT
ENST00000644057.1:n.4_5delinsGT
ENST00000644484.1:c.*2328_*2329delinsGT ENSP00000493558.1:n.*2328_*2329delinsGT
ENST00000644675.1:c.*2161-62_*2161-61delinsGT ENSP00000494567.1:n.*2161-62_*2161-61delinsGT
ENST00000644757.1:c.*2358_*2359delinsGT ENSP00000495085.1:n.*2358_*2359delinsGT
ENST00000644772.1:c.4055-62_4055-61delinsGT ENSP00000494321.1:n.4055-62_4055-61delinsGT
ENST00000645004.1:n.1582_1583delinsGT
ENST00000645076.1:c.3188-62_3188-61delinsGT
ENST00000645417.1:c.1177-62_1177-61delinsGT
ENST00000645744.1:c.*2707_*2708delinsGT ENSP00000494564.1:n.*2707_*2708delinsGT
ENST00000645760.1:c.4348_4349delinsGT
ENST00000645884.1:c.*1210_*1211delinsGT ENSP00000495516.1:n.*1210_*1211delinsGT
ENST00000646003.1:c.*2029_*2030delinsGT ENSP00000495259.1:n.*2029_*2030delinsGT
ENST00000646207.1:c.*2826-62_*2826-61delinsGT ENSP00000495025.1:n.*2826-62_*2826-61delinsGT
ENST00000646276.1:c.*2346_*2347delinsGT ENSP00000496070.1:n.*2346_*2347delinsGT
ENST00000646592.1:c.3295-62_3295-61delinsGT
ENST00000646902.1:c.3985+85_3985+86delinsGT ENSP00000494101.1:n.3985+85_3985+86delinsGT
ENST00000646993.1:c.*2469_*2470delinsGT ENSP00000493720.1:n.*2469_*2470delinsGT
ENST00000647013.1:c.3995-62_3995-61delinsGT ENSP00000496741.1:n.3995-62_3995-61delinsGT
ENST00000647015.1:c.3740-62_3740-61delinsGT ENSP00000495389.1:n.3740-62_3740-61delinsGT
ENST00000647086.1:c.*3604+85_*3604+86delinsGT ENSP00000493677.1:n.*3604+85_*3604+86delinsGT
ENST00000647158.1:c.*2214_*2215delinsGT ENSP00000495744.1:n.*2214_*2215delinsGT
ENST00000302539.8:c.3992-62_3992-61delinsGT ENSP00000303960.4:n.3992-62_3992-61delinsGT
ENST00000389817.7:c.3989-62_3989-61delinsGT ENSP00000374467.3:n.3989-62_3989-61delinsGT
ENST00000527905.5:c.*949_*950delinsGT ENSP00000431653.1:n.*949_*950delinsGT
ENST00000528374.1:c.459-50_459-49delinsGT
ENST00000531137.1:n.492_493delinsGT
ENST00000531891.1:c.356+85_356+86delinsGT
ENST00000532220.1:n.401_402delinsGT
NM_000352.4:c.3989-62_3989-61delinsGT NP_000343.2:n.3989-62_3989-61delinsGT
NM_001287174.1:c.3992-62_3992-61delinsGT NP_001274103.1:n.3992-62_3992-61delinsGT
XM_011520331.1:c.3989-62_3989-61delinsGT XP_011518633.1:n.3989-62_3989-61delinsGT
XM_011520332.1:c.3992-62_3992-61delinsGT XP_011518634.1:n.3992-62_3992-61delinsGT
XM_011520333.1:c.2489-62_2489-61delinsGT XP_011518635.1:n.2489-62_2489-61delinsGT
XR_930890.1:n.4055-62_4055-61delinsGT
NM_001351295.1:c.4055-62_4055-61delinsGT NP_001338224.1:n.4055-62_4055-61delinsGT
NM_001351296.1:c.3989-62_3989-61delinsGT NP_001338225.1:n.3989-62_3989-61delinsGT
NM_001351297.1:c.3986-62_3986-61delinsGT NP_001338226.1:n.3986-62_3986-61delinsGT
NR_147094.1:n.4222_4223delinsGT
XM_017018197.2:c.4058-62_4058-61delinsGT XP_016873686.1:n.4058-62_4058-61delinsGT
XM_017018199.1:c.4055-62_4055-61delinsGT XP_016873688.1:n.4055-62_4055-61delinsGT
XM_017018201.2:c.4058-62_4058-61delinsGT XP_016873690.1:n.4058-62_4058-61delinsGT
XM_017018202.1:c.2555-62_2555-61delinsGT XP_016873691.1:n.2555-62_2555-61delinsGT
XM_017018204.1:c.1946-62_1946-61delinsGT XP_016873693.1:n.1946-62_1946-61delinsGT
XM_024448668.1:c.2357-62_2357-61delinsGT XP_024304436.1:n.2357-62_2357-61delinsGT
XR_001747945.2:n.4130-62_4130-61delinsGT
XR_001747946.2:n.4061-62_4061-61delinsGT
XR_002957189.1:n.4664_4665delinsGT
NM_000352.6:c.3989-62_3989-61delinsGT MANE Select NP_000343.2:n.3989-62_3989-61delinsGT
NM_001287174.2:c.3992-62_3992-61delinsGT NP_001274103.1:n.3992-62_3992-61delinsGT
NM_001351295.2:c.4055-62_4055-61delinsGT NP_001338224.1:n.4055-62_4055-61delinsGT
NM_001351296.2:c.3989-62_3989-61delinsGT NP_001338225.1:n.3989-62_3989-61delinsGT
NM_001351297.2:c.3986-62_3986-61delinsGT NP_001338226.1:n.3986-62_3986-61delinsGT
NR_147094.2:n.4222_4223delinsGT
NM_001287174.3:c.3992-62_3992-61delinsGT NP_001274103.1:n.3992-62_3992-61delinsGT