Canonical Allele Identifier: CA2695213265
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396977_17396993delinsA , CM000673.2:g.17396977_17396993delinsA GRCh38
NC_000011.9:g.17418524_17418540delinsA , CM000673.1:g.17418524_17418540delinsA GRCh37
NC_000011.8:g.17375100_17375116delinsA NCBI36
NG_008867.1:g.84910_84926delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3643_3659delinsT
ENST00000528374.2:c.633_649delinsT
ENST00000529967.6:n.2381_2397delinsT
ENST00000532220.2:n.2290_2306delinsT
ENST00000642611.2:n.4257_4273delinsT
ENST00000644057.2:n.485_501delinsT
ENST00000645004.2:n.1541_1557delinsT
ENST00000682051.1:n.4204_4220delinsT
ENST00000682110.1:n.4257_4273delinsT
ENST00000682140.1:c.3985+200_3985+216delinsT ENSP00000507829.1:n.3985+200_3985+216delinsT
ENST00000682185.1:n.5347_5363delinsT
ENST00000682204.1:c.*2180_*2196delinsT ENSP00000507094.1:n.*2180_*2196delinsT
ENST00000682215.1:n.4624_4640delinsT
ENST00000682288.1:c.*2473_*2489delinsT ENSP00000507506.1:n.*2473_*2489delinsT
ENST00000682442.1:n.4477_4493delinsT
ENST00000682528.1:n.4334_4350delinsT
ENST00000682673.1:n.4201_4217delinsT
ENST00000682805.1:n.4624_4640delinsT
ENST00000682965.1:c.*464_*480delinsT ENSP00000508229.1:n.*464_*480delinsT
ENST00000683093.1:n.4356_4372delinsT
ENST00000683136.1:c.3925_3941delinsT ENSP00000507768.1:p.Asn1309SerfsTer5
ENST00000683153.1:n.4299_4315delinsT
ENST00000683365.1:n.4359_4375delinsT
ENST00000683377.1:n.4257_4273delinsT
ENST00000683456.1:c.*1179_*1195delinsT ENSP00000508318.1:n.*1179_*1195delinsT
ENST00000683522.1:n.4257_4273delinsT
ENST00000683562.1:c.*2211_*2227delinsT ENSP00000508265.1:n.*2211_*2227delinsT
ENST00000683693.1:n.4704_4720delinsT
ENST00000683725.1:c.4042_4058delinsT ENSP00000507496.1:p.Asn1348SerfsTer5
ENST00000684010.1:n.4252_4268delinsT
ENST00000684157.1:n.4257_4273delinsT
ENST00000684253.1:n.4160_4176delinsT
ENST00000684288.1:c.*2214_*2230delinsT ENSP00000507143.1:n.*2214_*2230delinsT
ENST00000684313.1:n.3689_3705delinsT
ENST00000684332.1:n.4330_4346delinsT
ENST00000684371.1:n.4363_4379delinsT
ENST00000684404.1:n.4300_4316delinsT
ENST00000684442.1:n.4481_4497delinsT
ENST00000684555.1:c.*2254_*2270delinsT ENSP00000507705.1:n.*2254_*2270delinsT
ENST00000684571.1:c.3883_3899delinsT ENSP00000506935.1:p.Asn1295SerfsTer5
ENST00000684593.1:c.*3747_*3763delinsT ENSP00000507005.1:n.*3747_*3763delinsT
ENST00000684711.1:c.*2438_*2454delinsT ENSP00000506841.1:n.*2438_*2454delinsT
ENST00000302539.9:c.4045_4061delinsT ENSP00000303960.4:p.Asn1349SerfsTer5
ENST00000389817.8:c.4042_4058delinsT MANE Select ENSP00000374467.4:p.Asn1348SerfsTer5
ENST00000642271.1:c.4039_4055delinsT ENSP00000493749.1:p.Asn1347SerfsTer5
ENST00000642579.1:c.2096_2112delinsT
ENST00000642611.1:n.4142_4158delinsT
ENST00000642902.1:c.3824_3840delinsT
ENST00000643260.1:c.4042_4058delinsT ENSP00000494450.1:p.Asn1348SerfsTer5
ENST00000643562.1:c.*2164_*2180delinsT ENSP00000496124.1:n.*2164_*2180delinsT
ENST00000643925.1:c.2682_2698delinsT
ENST00000644057.1:n.119_135delinsT
ENST00000644484.1:c.*2443_*2459delinsT ENSP00000493558.1:n.*2443_*2459delinsT
ENST00000644675.1:c.*2214_*2230delinsT ENSP00000494567.1:n.*2214_*2230delinsT
ENST00000644757.1:c.*2473_*2489delinsT ENSP00000495085.1:n.*2473_*2489delinsT
ENST00000644772.1:c.4108_4124delinsT ENSP00000494321.1:p.Asn1370SerfsTer5
ENST00000645004.1:n.1697_1713delinsT
ENST00000645076.1:c.3241_3257delinsT
ENST00000645417.1:c.1230_1246delinsT
ENST00000645744.1:c.*2822_*2838delinsT ENSP00000494564.1:n.*2822_*2838delinsT
ENST00000645760.1:c.4463_4479delinsT
ENST00000645884.1:c.*1325_*1341delinsT ENSP00000495516.1:n.*1325_*1341delinsT
ENST00000646003.1:c.*2144_*2160delinsT ENSP00000495259.1:n.*2144_*2160delinsT
ENST00000646207.1:c.*2879_*2895delinsT ENSP00000495025.1:n.*2879_*2895delinsT
ENST00000646276.1:c.*2461_*2477delinsT ENSP00000496070.1:n.*2461_*2477delinsT
ENST00000646592.1:c.3348_3364delinsT
ENST00000646902.1:c.4009_4025delinsT ENSP00000494101.1:p.Asn1337SerfsTer5
ENST00000646993.1:c.*2584_*2600delinsT ENSP00000493720.1:n.*2584_*2600delinsT
ENST00000647013.1:c.4048_4064delinsT ENSP00000496741.1:n.4048_4064delinsT
ENST00000647015.1:c.3793_3809delinsT ENSP00000495389.1:p.Asn1265SerfsTer5
ENST00000647086.1:c.*3628_*3644delinsT ENSP00000493677.1:n.*3628_*3644delinsT
ENST00000647158.1:c.*2329_*2345delinsT ENSP00000495744.1:n.*2329_*2345delinsT
ENST00000302539.8:c.4045_4061delinsT ENSP00000303960.4:p.Asn1349SerfsTer5
ENST00000389817.7:c.4042_4058delinsT ENSP00000374467.3:p.Asn1348SerfsTer5
ENST00000527905.5:c.*1064_*1080delinsT ENSP00000431653.1:n.*1064_*1080delinsT
ENST00000528374.1:c.524_540delinsT
ENST00000531137.1:n.607_623delinsT
ENST00000531891.1:c.380_396delinsT
ENST00000532220.1:n.516_532delinsT
NM_000352.4:c.4042_4058delinsT NP_000343.2:p.Asn1348SerfsTer5
NM_001287174.1:c.4045_4061delinsT NP_001274103.1:p.Asn1349SerfsTer5
XM_011520331.1:c.4042_4058delinsT XP_011518633.1:p.Asn1348SerfsTer5
XM_011520332.1:c.4045_4061delinsT XP_011518634.1:p.Asn1349SerfsTer5
XM_011520333.1:c.2542_2558delinsT XP_011518635.1:p.Asn848SerfsTer5
XR_930890.1:n.4108_4124delinsT
NM_001351295.1:c.4108_4124delinsT NP_001338224.1:p.Asn1370SerfsTer5
NM_001351296.1:c.4042_4058delinsT NP_001338225.1:p.Asn1348SerfsTer5
NM_001351297.1:c.4039_4055delinsT NP_001338226.1:p.Asn1347SerfsTer5
NR_147094.1:n.4337_4353delinsT
XM_017018197.2:c.4111_4127delinsT XP_016873686.1:p.Asn1371SerfsTer5
XM_017018199.1:c.4108_4124delinsT XP_016873688.1:p.Asn1370SerfsTer5
XM_017018201.2:c.4111_4127delinsT XP_016873690.1:p.Asn1371SerfsTer5
XM_017018202.1:c.2608_2624delinsT XP_016873691.1:p.Asn870SerfsTer5
XM_017018204.1:c.1999_2015delinsT XP_016873693.1:p.Asn667SerfsTer5
XM_024448668.1:c.2410_2426delinsT XP_024304436.1:p.Asn804SerfsTer5
XR_001747945.2:n.4183_4199delinsT
XR_001747946.2:n.4114_4130delinsT
XR_002957189.1:n.4779_4795delinsT
NM_000352.6:c.4042_4058delinsT MANE Select NP_000343.2:p.Asn1348SerfsTer5
NM_001287174.2:c.4045_4061delinsT NP_001274103.1:p.Asn1349SerfsTer5
NM_001351295.2:c.4108_4124delinsT NP_001338224.1:p.Asn1370SerfsTer5
NM_001351296.2:c.4042_4058delinsT NP_001338225.1:p.Asn1348SerfsTer5
NM_001351297.2:c.4039_4055delinsT NP_001338226.1:p.Asn1347SerfsTer5
NR_147094.2:n.4337_4353delinsT
NM_001287174.3:c.4045_4061delinsT NP_001274103.1:p.Asn1349SerfsTer5