Canonical Allele Identifier: CA1955123891
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396914_17396915delinsAC , CM000673.2:g.17396914_17396915delinsAC GRCh38
NC_000011.9:g.17418461_17418462delinsAC , CM000673.1:g.17418461_17418462delinsAC GRCh37
NC_000011.8:g.17375037_17375038delinsAC NCBI36
NG_008867.1:g.84988_84989delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3720+1_3720+2delinsGT
ENST00000528374.2:c.710+1_710+2delinsGT
ENST00000529967.6:n.2458+1_2458+2delinsGT
ENST00000532220.2:n.2368_2369delinsGT
ENST00000642611.2:n.4335_4336delinsGT
ENST00000644057.2:n.562+1_562+2delinsGT
ENST00000645004.2:n.1618+1_1618+2delinsGT
ENST00000682051.1:n.4281+1_4281+2delinsGT
ENST00000682110.1:n.4334+1_4334+2delinsGT
ENST00000682140.1:c.3985+278_3985+279delinsGT ENSP00000507829.1:n.3985+278_3985+279deli...
ENST00000682185.1:n.5424+1_5424+2delinsGT
ENST00000682204.1:c.*2257+1_*2257+2delinsGT ENSP00000507094.1:n.*2257+1_*2257+2delins...
ENST00000682215.1:n.4701+1_4701+2delinsGT
ENST00000682288.1:c.*2550+1_*2550+2delinsGT ENSP00000507506.1:n.*2550+1_*2550+2delins...
ENST00000682442.1:n.4554+1_4554+2delinsGT
ENST00000682528.1:n.4411+1_4411+2delinsGT
ENST00000682673.1:n.4278+1_4278+2delinsGT
ENST00000682805.1:n.4702_4703delinsGT
ENST00000682965.1:c.*541+1_*541+2delinsGT ENSP00000508229.1:n.*541+1_*541+2delinsGT...
ENST00000683093.1:n.4434_4435delinsGT
ENST00000683136.1:c.4002+1_4002+2delinsGT ENSP00000507768.1:n.4002+1_4002+2delinsGT...
ENST00000683153.1:n.4376+1_4376+2delinsGT
ENST00000683365.1:n.4436+1_4436+2delinsGT
ENST00000683377.1:n.4334+1_4334+2delinsGT
ENST00000683456.1:c.*1256+1_*1256+2delinsGT ENSP00000508318.1:n.*1256+1_*1256+2delins...
ENST00000683522.1:n.4334+1_4334+2delinsGT
ENST00000683562.1:c.*2288+1_*2288+2delinsGT ENSP00000508265.1:n.*2288+1_*2288+2delins...
ENST00000683693.1:n.4782_4783delinsGT
ENST00000683725.1:c.4119+1_4119+2delinsGT ENSP00000507496.1:n.4119+1_4119+2delinsGT...
ENST00000684010.1:n.4329+1_4329+2delinsGT
ENST00000684157.1:n.4335_4336delinsGT
ENST00000684253.1:n.4237+1_4237+2delinsGT
ENST00000684288.1:c.*2291+1_*2291+2delinsGT ENSP00000507143.1:n.*2291+1_*2291+2delins...
ENST00000684313.1:n.3766+1_3766+2delinsGT
ENST00000684332.1:n.4407+1_4407+2delinsGT
ENST00000684371.1:n.4440+1_4440+2delinsGT
ENST00000684404.1:n.4378_4379delinsGT
ENST00000684442.1:n.4558+1_4558+2delinsGT
ENST00000684555.1:c.*2331+1_*2331+2delinsGT ENSP00000507705.1:n.*2331+1_*2331+2delins...
ENST00000684571.1:c.3960+1_3960+2delinsGT ENSP00000506935.1:n.3960+1_3960+2delinsGT...
ENST00000684593.1:c.*3824+1_*3824+2delinsGT ENSP00000507005.1:n.*3824+1_*3824+2delins...
ENST00000684711.1:c.*2515+1_*2515+2delinsGT ENSP00000506841.1:n.*2515+1_*2515+2delins...
ENST00000302539.9:c.4122+1_4122+2delinsGT ENSP00000303960.4:n.4122+1_4122+2delinsGT...
ENST00000389817.8:c.4119+1_4119+2delinsGT MANE Select ENSP00000374467.4:n.4119+1_4119+2delinsGT...
ENST00000642271.1:c.4116+1_4116+2delinsGT ENSP00000493749.1:n.4116+1_4116+2delinsGT...
ENST00000642579.1:c.2173+1_2173+2delinsGT
ENST00000642611.1:n.4220_4221delinsGT
ENST00000642902.1:c.3901+1_3901+2delinsGT
ENST00000643260.1:c.4119+1_4119+2delinsGT ENSP00000494450.1:n.4119+1_4119+2delinsGT...
ENST00000643562.1:c.*2241+1_*2241+2delinsGT ENSP00000496124.1:n.*2241+1_*2241+2delins...
ENST00000643925.1:c.2759+1_2759+2delinsGT
ENST00000644057.1:n.196+1_196+2delinsGT
ENST00000644484.1:c.*2521_*2522delinsGT ENSP00000493558.1:n.*2521_*2522delinsGT
ENST00000644675.1:c.*2291+1_*2291+2delinsGT ENSP00000494567.1:n.*2291+1_*2291+2delins...
ENST00000644757.1:c.*2551_*2552delinsGT ENSP00000495085.1:n.*2551_*2552delinsGT
ENST00000644772.1:c.4185+1_4185+2delinsGT ENSP00000494321.1:n.4185+1_4185+2delinsGT...
ENST00000645004.1:n.1775_1776delinsGT
ENST00000645076.1:c.3318+1_3318+2delinsGT
ENST00000645417.1:c.1307+1_1307+2delinsGT
ENST00000645744.1:c.*2900_*2901delinsGT ENSP00000494564.1:n.*2900_*2901delinsGT
ENST00000645760.1:c.4540+1_4540+2delinsGT
ENST00000645884.1:c.*1402+1_*1402+2delinsGT ENSP00000495516.1:n.*1402+1_*1402+2delins...
ENST00000646003.1:c.*2221+1_*2221+2delinsGT ENSP00000495259.1:n.*2221+1_*2221+2delins...
ENST00000646207.1:c.*2956+1_*2956+2delinsGT ENSP00000495025.1:n.*2956+1_*2956+2delins...
ENST00000646276.1:c.*2539_*2540delinsGT ENSP00000496070.1:n.*2539_*2540delinsGT
ENST00000646592.1:c.3425+1_3425+2delinsGT
ENST00000646902.1:c.4086+1_4086+2delinsGT ENSP00000494101.1:n.4086+1_4086+2delinsGT...
ENST00000646993.1:c.*2661+1_*2661+2delinsGT ENSP00000493720.1:n.*2661+1_*2661+2delins...
ENST00000647013.1:c.4125+1_4125+2delinsGT ENSP00000496741.1:n.4125+1_4125+2delinsGT...
ENST00000647015.1:c.3870+1_3870+2delinsGT ENSP00000495389.1:n.3870+1_3870+2delinsGT...
ENST00000647086.1:c.*3705+1_*3705+2delinsGT ENSP00000493677.1:n.*3705+1_*3705+2delins...
ENST00000647158.1:c.*2406+1_*2406+2delinsGT ENSP00000495744.1:n.*2406+1_*2406+2delins...
ENST00000302539.8:c.4122+1_4122+2delinsGT ENSP00000303960.4:n.4122+1_4122+2delinsGT...
ENST00000389817.7:c.4119+1_4119+2delinsGT ENSP00000374467.3:n.4119+1_4119+2delinsGT...
ENST00000527905.5:c.*1142_*1143delinsGT ENSP00000431653.1:n.*1142_*1143delinsGT
ENST00000528374.1:c.601+1_601+2delinsGT
ENST00000532220.1:n.593+1_593+2delinsGT
NM_000352.4:c.4119+1_4119+2delinsGT NP_000343.2:n.4119+1_4119+2delinsGT
NM_001287174.1:c.4122+1_4122+2delinsGT NP_001274103.1:n.4122+1_4122+2delinsGT
XM_011520331.1:c.4119+1_4119+2delinsGT XP_011518633.1:n.4119+1_4119+2delinsGT
XM_011520332.1:c.4122+1_4122+2delinsGT XP_011518634.1:n.4122+1_4122+2delinsGT
XM_011520333.1:c.2619+1_2619+2delinsGT XP_011518635.1:n.2619+1_2619+2delinsGT
XR_930890.1:n.4185+1_4185+2delinsGT
NM_001351295.1:c.4185+1_4185+2delinsGT NP_001338224.1:n.4185+1_4185+2delinsGT
NM_001351296.1:c.4119+1_4119+2delinsGT NP_001338225.1:n.4119+1_4119+2delinsGT
NM_001351297.1:c.4116+1_4116+2delinsGT NP_001338226.1:n.4116+1_4116+2delinsGT
NR_147094.1:n.4414+1_4414+2delinsGT
XM_017018197.2:c.4188+1_4188+2delinsGT XP_016873686.1:n.4188+1_4188+2delinsGT
XM_017018199.1:c.4185+1_4185+2delinsGT XP_016873688.1:n.4185+1_4185+2delinsGT
XM_017018201.2:c.4188+1_4188+2delinsGT XP_016873690.1:n.4188+1_4188+2delinsGT
XM_017018202.1:c.2685+1_2685+2delinsGT XP_016873691.1:n.2685+1_2685+2delinsGT
XM_017018204.1:c.2076+1_2076+2delinsGT XP_016873693.1:n.2076+1_2076+2delinsGT
XM_024448668.1:c.2487+1_2487+2delinsGT XP_024304436.1:n.2487+1_2487+2delinsGT
XR_001747945.2:n.4260+1_4260+2delinsGT
XR_001747946.2:n.4191+1_4191+2delinsGT
XR_002957189.1:n.4857_4858delinsGT
NM_000352.6:c.4119+1_4119+2delinsGT MANE Select NP_000343.2:n.4119+1_4119+2delinsGT
NM_001287174.2:c.4122+1_4122+2delinsGT NP_001274103.1:n.4122+1_4122+2delinsGT
NM_001351295.2:c.4185+1_4185+2delinsGT NP_001338224.1:n.4185+1_4185+2delinsGT
NM_001351296.2:c.4119+1_4119+2delinsGT NP_001338225.1:n.4119+1_4119+2delinsGT
NM_001351297.2:c.4116+1_4116+2delinsGT NP_001338226.1:n.4116+1_4116+2delinsGT
NR_147094.2:n.4414+1_4414+2delinsGT
NM_001287174.3:c.4122+1_4122+2delinsGT NP_001274103.1:n.4122+1_4122+2delinsGT