Canonical Allele Identifier: CA2612642656
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396909_17396916del , CM000673.2:g.17396909_17396916del GRCh38
NC_000011.9:g.17418456_17418463del , CM000673.1:g.17418456_17418463del GRCh37
NC_000011.8:g.17375032_17375039del NCBI36
NG_008867.1:g.84987_84994del

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3720_3720+7del
ENST00000528374.2:c.710_710+7del
ENST00000529967.6:n.2458_2458+7del
ENST00000532220.2:n.2367_2374del
ENST00000642611.2:n.4334_4341del
ENST00000644057.2:n.562_562+7del
ENST00000645004.2:n.1618_1618+7del
ENST00000682051.1:n.4281_4281+7del
ENST00000682110.1:n.4334_4334+7del
ENST00000682140.1:c.3985+277_3985+284del ENSP00000507829.1:n.3985+277_3985+284del
ENST00000682185.1:n.5424_5424+7del
ENST00000682204.1:c.*2257_*2257+7del
ENST00000682215.1:n.4701_4701+7del
ENST00000682288.1:c.*2550_*2550+7del
ENST00000682442.1:n.4554_4554+7del
ENST00000682528.1:n.4411_4411+7del
ENST00000682673.1:n.4278_4278+7del
ENST00000682805.1:n.4701_4708del
ENST00000682965.1:c.*541_*541+7del
ENST00000683093.1:n.4433_4440del
ENST00000683136.1:c.4002_4002+7del
ENST00000683153.1:n.4376_4376+7del
ENST00000683365.1:n.4436_4436+7del
ENST00000683377.1:n.4334_4334+7del
ENST00000683456.1:c.*1256_*1256+7del
ENST00000683522.1:n.4334_4334+7del
ENST00000683562.1:c.*2288_*2288+7del
ENST00000683693.1:n.4781_4788del
ENST00000683725.1:c.4119_4119+7del
ENST00000684010.1:n.4329_4329+7del
ENST00000684157.1:n.4334_4341del
ENST00000684253.1:n.4237_4237+7del
ENST00000684288.1:c.*2291_*2291+7del
ENST00000684313.1:n.3766_3766+7del
ENST00000684332.1:n.4407_4407+7del
ENST00000684371.1:n.4440_4440+7del
ENST00000684404.1:n.4377_4384del
ENST00000684442.1:n.4558_4558+7del
ENST00000684555.1:c.*2331_*2331+7del
ENST00000684571.1:c.3960_3960+7del
ENST00000684593.1:c.*3824_*3824+7del
ENST00000684711.1:c.*2515_*2515+7del
ENST00000302539.9:c.4122_4122+7del
ENST00000389817.8:c.4119_4119+7del
ENST00000642271.1:c.4116_4116+7del
ENST00000642579.1:c.2173_2173+7del
ENST00000642611.1:n.4219_4226del
ENST00000642902.1:c.3901_3901+7del
ENST00000643260.1:c.4119_4119+7del
ENST00000643562.1:c.*2241_*2241+7del
ENST00000643925.1:c.2759_2759+7del
ENST00000644057.1:n.196_196+7del
ENST00000644484.1:c.*2520_*2527del ENSP00000493558.1:n.*2520_*2527del
ENST00000644675.1:c.*2291_*2291+7del
ENST00000644757.1:c.*2550_*2557del ENSP00000495085.1:n.*2550_*2557del
ENST00000644772.1:c.4185_4185+7del
ENST00000645004.1:n.1774_1781del
ENST00000645076.1:c.3318_3318+7del
ENST00000645417.1:c.1307_1307+7del
ENST00000645744.1:c.*2899_*2906del ENSP00000494564.1:n.*2899_*2906del
ENST00000645760.1:c.4540_4540+7del
ENST00000645884.1:c.*1402_*1402+7del
ENST00000646003.1:c.*2221_*2221+7del
ENST00000646207.1:c.*2956_*2956+7del
ENST00000646276.1:c.*2538_*2545del ENSP00000496070.1:n.*2538_*2545del
ENST00000646592.1:c.3425_3425+7del
ENST00000646902.1:c.4086_4086+7del
ENST00000646993.1:c.*2661_*2661+7del
ENST00000647013.1:c.4125_4125+7del
ENST00000647015.1:c.3870_3870+7del
ENST00000647086.1:c.*3705_*3705+7del
ENST00000647158.1:c.*2406_*2406+7del
ENST00000302539.8:c.4122_4122+7del
ENST00000389817.7:c.4119_4119+7del
ENST00000527905.5:c.*1141_*1148del ENSP00000431653.1:n.*1141_*1148del
ENST00000528374.1:c.601_601+7del
ENST00000532220.1:n.593_593+7del
NM_000352.4:c.4119_4119+7del
NM_001287174.1:c.4122_4122+7del
XM_011520331.1:c.4119_4119+7del
XM_011520332.1:c.4122_4122+7del
XM_011520333.1:c.2619_2619+7del
XR_930890.1:n.4185_4185+7del
NM_001351295.1:c.4185_4185+7del
NM_001351296.1:c.4119_4119+7del
NM_001351297.1:c.4116_4116+7del
NR_147094.1:n.4414_4414+7del
XM_017018197.2:c.4188_4188+7del
XM_017018199.1:c.4185_4185+7del
XM_017018201.2:c.4188_4188+7del
XM_017018202.1:c.2685_2685+7del
XM_017018204.1:c.2076_2076+7del
XM_024448668.1:c.2487_2487+7del
XR_001747945.2:n.4260_4260+7del
XR_001747946.2:n.4191_4191+7del
XR_002957189.1:n.4856_4863del
NM_000352.6:c.4119_4119+7del
NM_001287174.2:c.4122_4122+7del
NM_001351295.2:c.4185_4185+7del
NM_001351296.2:c.4119_4119+7del
NM_001351297.2:c.4116_4116+7del
NR_147094.2:n.4414_4414+7del
NM_001287174.3:c.4122_4122+7del