Canonical Allele Identifier: CA2695213260
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395926_17395931del , CM000673.2:g.17395926_17395931del GRCh38
NC_000011.9:g.17417473_17417478del , CM000673.1:g.17417473_17417478del GRCh37
NC_000011.8:g.17374049_17374054del NCBI36
NG_008867.1:g.85976_85981del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3724_3729del
ENST00000528374.2:c.714_719del
ENST00000529967.6:n.2462_2467del
ENST00000532220.2:n.3356_3361del
ENST00000642611.2:n.5323_5328del
ENST00000644057.2:n.566_571del
ENST00000645004.2:n.1622_1627del
ENST00000682051.1:n.4285_4290del
ENST00000682110.1:n.4338_4343del
ENST00000682140.1:c.3989_3994del
ENST00000682185.1:n.5428_5433del
ENST00000682204.1:c.*2261_*2266del
ENST00000682215.1:n.4705_4710del
ENST00000682288.1:c.*2554_*2559del
ENST00000682442.1:n.4558_4563del
ENST00000682528.1:n.4415_4420del
ENST00000682673.1:n.4282_4287del
ENST00000682805.1:n.4743_4748del
ENST00000682965.1:c.*545_*550del
ENST00000683093.1:n.5422_5427del
ENST00000683136.1:c.4006_4011del
ENST00000683153.1:n.4380_4385del
ENST00000683365.1:n.4440_4445del
ENST00000683377.1:n.4338_4343del
ENST00000683456.1:c.*1260_*1265del
ENST00000683522.1:n.4338_4343del
ENST00000683562.1:c.*2292_*2297del
ENST00000683693.1:n.5770_5775del
ENST00000683725.1:c.4123_4128del
ENST00000684010.1:n.4333_4338del
ENST00000684157.1:n.5323_5328del
ENST00000684253.1:n.4241_4246del
ENST00000684288.1:c.*2295_*2300del
ENST00000684313.1:n.3770_3775del
ENST00000684332.1:n.4411_4416del
ENST00000684371.1:n.4444_4449del
ENST00000684404.1:n.5366_5371del
ENST00000684442.1:n.4562_4567del
ENST00000684555.1:c.*2335_*2340del
ENST00000684571.1:c.3964_3969del
ENST00000684593.1:c.*3828_*3833del
ENST00000684711.1:c.*2519_*2524del
ENST00000302539.9:c.4126_4131del
ENST00000389817.8:c.4123_4128del
ENST00000642271.1:c.4120_4125del
ENST00000642579.1:c.2177_2182del
ENST00000642611.1:n.5208_5213del
ENST00000642902.1:c.3905_3910del
ENST00000643260.1:c.4123_4128del
ENST00000643562.1:c.*2245_*2250del
ENST00000643925.1:c.2763_2768del
ENST00000644057.1:n.200_205del
ENST00000644484.1:c.*3509_*3514del ENSP00000493558.1:n.*3509_*3514del
ENST00000644675.1:c.*2295_*2300del
ENST00000644757.1:c.*3202+337_*3202+342del ENSP00000495085.1:n.*3202+337_*3202+342del
ENST00000644772.1:c.4189_4194del
ENST00000645004.1:n.1816_1821del
ENST00000645076.1:c.3322_3327del
ENST00000645417.1:c.1311_1316del
ENST00000645744.1:c.*3888_*3893del ENSP00000494564.1:n.*3888_*3893del
ENST00000645760.1:c.4544_4549del
ENST00000645884.1:c.*1406_*1411del
ENST00000646003.1:c.*2225_*2230del
ENST00000646207.1:c.*2960_*2965del
ENST00000646276.1:c.*3527_*3532del ENSP00000496070.1:n.*3527_*3532del
ENST00000646592.1:c.3429_3434del
ENST00000646902.1:c.4090_4095del
ENST00000646993.1:c.*2665_*2670del
ENST00000647013.1:c.4129_4134del
ENST00000647015.1:c.3874_3879del
ENST00000647086.1:c.*3709_*3714del
ENST00000647158.1:c.*2410_*2415del
ENST00000302539.8:c.4126_4131del
ENST00000389817.7:c.4123_4128del
ENST00000528374.1:c.605_610del
ENST00000532220.1:n.597_602del
NM_000352.4:c.4123_4128del
NM_001287174.1:c.4126_4131del
XM_011520331.1:c.4123_4128del
XM_011520332.1:c.4126_4131del
XM_011520333.1:c.2623_2628del
XR_930890.1:n.4189_4194del
NM_001351295.1:c.4189_4194del
NM_001351296.1:c.4123_4128del
NM_001351297.1:c.4120_4125del
NR_147094.1:n.4418_4423del
XM_017018197.2:c.4192_4197del
XM_017018199.1:c.4189_4194del
XM_017018201.2:c.4192_4197del
XM_017018202.1:c.2689_2694del
XM_017018204.1:c.2080_2085del
XM_024448668.1:c.2491_2496del
XR_001747945.2:n.4264_4269del
XR_001747946.2:n.4195_4200del
XR_002957189.1:n.5845_5850del
NM_000352.6:c.4123_4128del
NM_001287174.2:c.4126_4131del
NM_001351295.2:c.4189_4194del
NM_001351296.2:c.4123_4128del
NM_001351297.2:c.4120_4125del
NR_147094.2:n.4418_4423del
NM_001287174.3:c.4126_4131del