Canonical Allele Identifier: CA912971895
Community Standard Title: NC_000011.10:g.17396916_17396919del
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396916_17396919del , CM000673.2:g.17396916_17396919del GRCh38
NC_000011.9:g.17418463_17418466del , CM000673.1:g.17418463_17418466del GRCh37
NC_000011.8:g.17375039_17375042del NCBI36
NG_008867.1:g.84985_84988del

Transcript Alleles

HGVS Amino-acid Change
NM_000352.4:c.4117_4119+1del
NM_000352.6:c.4117_4119+1del
NM_001287174.1:c.4120_4122+1del
NM_001287174.2:c.4120_4122+1del
NM_001287174.3:c.4120_4122+1del
NM_001351295.1:c.4183_4185+1del
NM_001351295.2:c.4183_4185+1del
NM_001351296.1:c.4117_4119+1del
NM_001351296.2:c.4117_4119+1del
NM_001351297.1:c.4114_4116+1del
NM_001351297.2:c.4114_4116+1del
NR_147094.1:n.4412_4414+1del
NR_147094.2:n.4412_4414+1del
ENST00000302539.8:c.4120_4122+1del
ENST00000302539.9:c.4120_4122+1del
ENST00000389817.7:c.4117_4119+1del
ENST00000389817.8:c.4117_4119+1del
ENST00000524561.2:n.3718_3720+1del
ENST00000527905.5:c.*1139_*1142del ENSP00000431653.1:n.*1139_*1142del
ENST00000528374.1:c.599_601+1del
ENST00000528374.2:c.708_710+1del
ENST00000529967.6:n.2456_2458+1del
ENST00000532220.1:n.591_593+1del
ENST00000532220.2:n.2365_2368del
ENST00000642271.1:c.4114_4116+1del
ENST00000642579.1:c.2171_2173+1del
ENST00000642611.1:n.4217_4220del
ENST00000642611.2:n.4332_4335del
ENST00000642902.1:c.3899_3901+1del
ENST00000643260.1:c.4117_4119+1del
ENST00000643562.1:c.*2239_*2241+1del
ENST00000643925.1:c.2757_2759+1del
ENST00000644057.1:n.194_196+1del
ENST00000644057.2:n.560_562+1del
ENST00000644484.1:c.*2518_*2521del ENSP00000493558.1:n.*2518_*2521del
ENST00000644675.1:c.*2289_*2291+1del
ENST00000644757.1:c.*2548_*2551del ENSP00000495085.1:n.*2548_*2551del
ENST00000644772.1:c.4183_4185+1del
ENST00000645004.1:n.1772_1775del
ENST00000645004.2:n.1616_1618+1del
ENST00000645076.1:c.3316_3318+1del
ENST00000645417.1:c.1305_1307+1del
ENST00000645744.1:c.*2897_*2900del ENSP00000494564.1:n.*2897_*2900del
ENST00000645760.1:c.4538_4540+1del
ENST00000645884.1:c.*1400_*1402+1del
ENST00000646003.1:c.*2219_*2221+1del
ENST00000646207.1:c.*2954_*2956+1del
ENST00000646276.1:c.*2536_*2539del ENSP00000496070.1:n.*2536_*2539del
ENST00000646592.1:c.3423_3425+1del
ENST00000646902.1:c.4084_4086+1del
ENST00000646993.1:c.*2659_*2661+1del
ENST00000647013.1:c.4123_4125+1del
ENST00000647015.1:c.3868_3870+1del
ENST00000647086.1:c.*3703_*3705+1del
ENST00000647158.1:c.*2404_*2406+1del
ENST00000682051.1:n.4279_4281+1del
ENST00000682110.1:n.4332_4334+1del
ENST00000682140.1:c.3985+275_3985+278del ENSP00000507829.1:n.3985+275_3985+278del
ENST00000682185.1:n.5422_5424+1del
ENST00000682204.1:c.*2255_*2257+1del
ENST00000682215.1:n.4699_4701+1del
ENST00000682288.1:c.*2548_*2550+1del
ENST00000682442.1:n.4552_4554+1del
ENST00000682528.1:n.4409_4411+1del
ENST00000682673.1:n.4276_4278+1del
ENST00000682805.1:n.4699_4702del
ENST00000682965.1:c.*539_*541+1del
ENST00000683093.1:n.4431_4434del
ENST00000683136.1:c.4000_4002+1del
ENST00000683153.1:n.4374_4376+1del
ENST00000683365.1:n.4434_4436+1del
ENST00000683377.1:n.4332_4334+1del
ENST00000683456.1:c.*1254_*1256+1del
ENST00000683522.1:n.4332_4334+1del
ENST00000683562.1:c.*2286_*2288+1del
ENST00000683693.1:n.4779_4782del
ENST00000683725.1:c.4117_4119+1del
ENST00000684010.1:n.4327_4329+1del
ENST00000684157.1:n.4332_4335del
ENST00000684253.1:n.4235_4237+1del
ENST00000684288.1:c.*2289_*2291+1del
ENST00000684313.1:n.3764_3766+1del
ENST00000684332.1:n.4405_4407+1del
ENST00000684371.1:n.4438_4440+1del
ENST00000684404.1:n.4375_4378del
ENST00000684442.1:n.4556_4558+1del
ENST00000684555.1:c.*2329_*2331+1del
ENST00000684571.1:c.3958_3960+1del
ENST00000684593.1:c.*3822_*3824+1del
ENST00000684711.1:c.*2513_*2515+1del
XM_011520331.1:c.4117_4119+1del
XM_011520332.1:c.4120_4122+1del
XM_011520333.1:c.2617_2619+1del
XM_017018197.2:c.4186_4188+1del
XM_017018199.1:c.4183_4185+1del
XM_017018201.2:c.4186_4188+1del
XM_017018202.1:c.2683_2685+1del
XM_017018204.1:c.2074_2076+1del
XM_024448668.1:c.2485_2487+1del
XR_001747945.2:n.4258_4260+1del
XR_001747946.2:n.4189_4191+1del
XR_002957189.1:n.4854_4857del
XR_930890.1:n.4183_4185+1del