Canonical Allele Identifier: CA2695213259
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395911_17395915delinsCAC , CM000673.2:g.17395911_17395915delinsCAC GRCh38
NC_000011.9:g.17417458_17417462delinsCAC , CM000673.1:g.17417458_17417462delinsCAC GRCh37
NC_000011.8:g.17374034_17374038delinsCAC NCBI36
NG_008867.1:g.85988_85992delinsGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3736_3740delinsGTG
ENST00000528374.2:c.726_730delinsGTG
ENST00000529967.6:n.2474_2478delinsGTG
ENST00000532220.2:n.3368_3372delinsGTG
ENST00000642611.2:n.5335_5339delinsGTG
ENST00000644057.2:n.578_582delinsGTG
ENST00000645004.2:n.1634_1638delinsGTG
ENST00000682051.1:n.4297_4301delinsGTG
ENST00000682110.1:n.4350_4354delinsGTG
ENST00000682140.1:c.4001_4005delinsGTG ENSP00000507829.1:p.Pro1334ArgfsTer?
ENST00000682185.1:n.5440_5444delinsGTG
ENST00000682204.1:c.*2273_*2277delinsGTG ENSP00000507094.1:n.*2273_*2277delinsGTG
ENST00000682215.1:n.4717_4721delinsGTG
ENST00000682288.1:c.*2566_*2570delinsGTG ENSP00000507506.1:n.*2566_*2570delinsGTG
ENST00000682442.1:n.4570_4574delinsGTG
ENST00000682528.1:n.4427_4431delinsGTG
ENST00000682673.1:n.4294_4298delinsGTG
ENST00000682805.1:n.4755_4759delinsGTG
ENST00000682965.1:c.*557_*561delinsGTG ENSP00000508229.1:n.*557_*561delinsGTG
ENST00000683093.1:n.5434_5438delinsGTG
ENST00000683136.1:c.4018_4022delinsGTG ENSP00000507768.1:p.Arg1340ValfsTer26
ENST00000683153.1:n.4392_4396delinsGTG
ENST00000683365.1:n.4452_4456delinsGTG
ENST00000683377.1:n.4350_4354delinsGTG
ENST00000683456.1:c.*1272_*1276delinsGTG ENSP00000508318.1:n.*1272_*1276delinsGTG
ENST00000683522.1:n.4350_4354delinsGTG
ENST00000683562.1:c.*2304_*2308delinsGTG ENSP00000508265.1:n.*2304_*2308delinsGTG
ENST00000683693.1:n.5782_5786delinsGTG
ENST00000683725.1:c.4135_4139delinsGTG ENSP00000507496.1:p.Arg1379ValfsTer26
ENST00000684010.1:n.4345_4349delinsGTG
ENST00000684157.1:n.5335_5339delinsGTG
ENST00000684253.1:n.4253_4257delinsGTG
ENST00000684288.1:c.*2307_*2311delinsGTG ENSP00000507143.1:n.*2307_*2311delinsGTG
ENST00000684313.1:n.3782_3786delinsGTG
ENST00000684332.1:n.4423_4427delinsGTG
ENST00000684371.1:n.4456_4460delinsGTG
ENST00000684404.1:n.5378_5382delinsGTG
ENST00000684442.1:n.4574_4578delinsGTG
ENST00000684555.1:c.*2347_*2351delinsGTG ENSP00000507705.1:n.*2347_*2351delinsGTG
ENST00000684571.1:c.3976_3980delinsGTG ENSP00000506935.1:p.Arg1326ValfsTer26
ENST00000684593.1:c.*3840_*3844delinsGTG ENSP00000507005.1:n.*3840_*3844delinsGTG
ENST00000684711.1:c.*2531_*2535delinsGTG ENSP00000506841.1:n.*2531_*2535delinsGTG
ENST00000302539.9:c.4138_4142delinsGTG ENSP00000303960.4:p.Arg1380ValfsTer26
ENST00000389817.8:c.4135_4139delinsGTG MANE Select ENSP00000374467.4:p.Arg1379ValfsTer26
ENST00000642271.1:c.4132_4136delinsGTG ENSP00000493749.1:p.Arg1378ValfsTer26
ENST00000642579.1:c.2189_2193delinsGTG
ENST00000642611.1:n.5220_5224delinsGTG
ENST00000642902.1:c.3917_3921delinsGTG
ENST00000643260.1:c.4135_4139delinsGTG ENSP00000494450.1:p.Arg1379ValfsTer26
ENST00000643562.1:c.*2257_*2261delinsGTG ENSP00000496124.1:n.*2257_*2261delinsGTG
ENST00000643925.1:c.2775_2779delinsGTG
ENST00000644057.1:n.212_216delinsGTG
ENST00000644484.1:c.*3521_*3525delinsGTG ENSP00000493558.1:n.*3521_*3525delinsGTG
ENST00000644675.1:c.*2307_*2311delinsGTG ENSP00000494567.1:n.*2307_*2311delinsGTG
ENST00000644757.1:c.*3202+349_*3202+353delinsGTG ENSP00000495085.1:n.*3202+349_*3202+353delinsGTG
ENST00000644772.1:c.4201_4205delinsGTG ENSP00000494321.1:p.Arg1401ValfsTer26
ENST00000645004.1:n.1828_1832delinsGTG
ENST00000645076.1:c.3334_3338delinsGTG
ENST00000645417.1:c.1323_1327delinsGTG
ENST00000645744.1:c.*3900_*3904delinsGTG ENSP00000494564.1:n.*3900_*3904delinsGTG
ENST00000645760.1:c.4556_4560delinsGTG
ENST00000645884.1:c.*1418_*1422delinsGTG ENSP00000495516.1:n.*1418_*1422delinsGTG
ENST00000646003.1:c.*2237_*2241delinsGTG ENSP00000495259.1:n.*2237_*2241delinsGTG
ENST00000646207.1:c.*2972_*2976delinsGTG ENSP00000495025.1:n.*2972_*2976delinsGTG
ENST00000646276.1:c.*3539_*3543delinsGTG ENSP00000496070.1:n.*3539_*3543delinsGTG
ENST00000646592.1:c.3441_3445delinsGTG
ENST00000646902.1:c.4102_4106delinsGTG ENSP00000494101.1:p.Arg1368ValfsTer26
ENST00000646993.1:c.*2677_*2681delinsGTG ENSP00000493720.1:n.*2677_*2681delinsGTG
ENST00000647013.1:c.4141_4145delinsGTG ENSP00000496741.1:n.4141_4145delinsGTG
ENST00000647015.1:c.3886_3890delinsGTG ENSP00000495389.1:p.Arg1296ValfsTer26
ENST00000647086.1:c.*3721_*3725delinsGTG ENSP00000493677.1:n.*3721_*3725delinsGTG
ENST00000647158.1:c.*2422_*2426delinsGTG ENSP00000495744.1:n.*2422_*2426delinsGTG
ENST00000302539.8:c.4138_4142delinsGTG ENSP00000303960.4:p.Arg1380ValfsTer26
ENST00000389817.7:c.4135_4139delinsGTG ENSP00000374467.3:p.Arg1379ValfsTer26
ENST00000525022.1:n.1_5delinsGTG
ENST00000526168.5:c.3_7delinsGTG
NM_000352.4:c.4135_4139delinsGTG NP_000343.2:p.Arg1379ValfsTer26
NM_001287174.1:c.4138_4142delinsGTG NP_001274103.1:p.Arg1380ValfsTer26
XM_011520331.1:c.4135_4139delinsGTG XP_011518633.1:p.Arg1379ValfsTer26
XM_011520332.1:c.4138_4142delinsGTG XP_011518634.1:p.Arg1380ValfsTer26
XM_011520333.1:c.2635_2639delinsGTG XP_011518635.1:p.Arg879ValfsTer26
XR_930890.1:n.4201_4205delinsGTG
NM_001351295.1:c.4201_4205delinsGTG NP_001338224.1:p.Arg1401ValfsTer26
NM_001351296.1:c.4135_4139delinsGTG NP_001338225.1:p.Arg1379ValfsTer26
NM_001351297.1:c.4132_4136delinsGTG NP_001338226.1:p.Arg1378ValfsTer26
NR_147094.1:n.4430_4434delinsGTG
XM_017018197.2:c.4204_4208delinsGTG XP_016873686.1:p.Arg1402ValfsTer26
XM_017018199.1:c.4201_4205delinsGTG XP_016873688.1:p.Arg1401ValfsTer26
XM_017018201.2:c.4204_4208delinsGTG XP_016873690.1:p.Arg1402ValfsTer26
XM_017018202.1:c.2701_2705delinsGTG XP_016873691.1:p.Arg901ValfsTer26
XM_017018204.1:c.2092_2096delinsGTG XP_016873693.1:p.Arg698ValfsTer26
XM_024448668.1:c.2503_2507delinsGTG XP_024304436.1:p.Arg835ValfsTer26
XR_001747945.2:n.4276_4280delinsGTG
XR_001747946.2:n.4207_4211delinsGTG
XR_002957189.1:n.5857_5861delinsGTG
NM_000352.6:c.4135_4139delinsGTG MANE Select NP_000343.2:p.Arg1379ValfsTer26
NM_001287174.2:c.4138_4142delinsGTG NP_001274103.1:p.Arg1380ValfsTer26
NM_001351295.2:c.4201_4205delinsGTG NP_001338224.1:p.Arg1401ValfsTer26
NM_001351296.2:c.4135_4139delinsGTG NP_001338225.1:p.Arg1379ValfsTer26
NM_001351297.2:c.4132_4136delinsGTG NP_001338226.1:p.Arg1378ValfsTer26
NR_147094.2:n.4430_4434delinsGTG
NM_001287174.3:c.4138_4142delinsGTG NP_001274103.1:p.Arg1380ValfsTer26