Canonical Allele Identifier: CA1955122146

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393414_17393415delinsAC , CM000673.2:g.17393414_17393415delinsAC	GRCh38
NC_000011.9:g.17414961_17414962delinsAC , CM000673.1:g.17414961_17414962delinsAC	GRCh37
NC_000011.8:g.17371537_17371538delinsAC	NCBI36
NG_008867.1:g.88488_88489delinsGT
NG_012446.1:g.245_246delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4209+282_4209+283delinsGT
ENST00000526037.6:n.543+282_543+283delinsGT
ENST00000528374.2:c.1199+282_1199+283delinsGT
ENST00000529967.6:n.2947+282_2947+283delinsGT
ENST00000532220.2:n.3841+282_3841+283delinsGT
ENST00000642611.2:n.5941+282_5941+283delinsGT
ENST00000644057.2:n.1184+282_1184+283delinsGT
ENST00000645004.2:n.2107+282_2107+283delinsGT
ENST00000682051.1:n.4770+282_4770+283delinsGT
ENST00000682110.1:n.4823+282_4823+283delinsGT
ENST00000682140.1:c.*394+282_*394+283delinsGT	ENSP00000507829.1:n.*394+282_*394+283delinsGT
ENST00000682185.1:n.5913+282_5913+283delinsGT
ENST00000682204.1:c.*2746+282_*2746+283delinsGT	ENSP00000507094.1:n.*2746+282_*2746+283delinsGT
ENST00000682215.1:n.5190+282_5190+283delinsGT
ENST00000682288.1:c.*3039+282_*3039+283delinsGT	ENSP00000507506.1:n.*3039+282_*3039+283delinsGT
ENST00000682442.1:n.5043+282_5043+283delinsGT
ENST00000682528.1:n.4900+282_4900+283delinsGT
ENST00000682673.1:n.4767+282_4767+283delinsGT
ENST00000682805.1:n.5228+282_5228+283delinsGT
ENST00000682965.1:c.*1030+282_*1030+283delinsGT	ENSP00000508229.1:n.*1030+282_*1030+283delinsGT
ENST00000683093.1:n.5803+282_5803+283delinsGT
ENST00000683136.1:c.4491+282_4491+283delinsGT	ENSP00000507768.1:n.4491+282_4491+283delinsGT
ENST00000683153.1:n.4865+282_4865+283delinsGT
ENST00000683365.1:n.4925+282_4925+283delinsGT
ENST00000683377.1:n.4719+282_4719+283delinsGT
ENST00000683456.1:c.*1745+282_*1745+283delinsGT	ENSP00000508318.1:n.*1745+282_*1745+283delinsGT
ENST00000683522.1:n.4905+282_4905+283delinsGT
ENST00000683562.1:c.*2673+282_*2673+283delinsGT	ENSP00000508265.1:n.*2673+282_*2673+283delinsGT
ENST00000683693.1:n.6284+282_6284+283delinsGT
ENST00000683725.1:c.*73+282_*73+283delinsGT	ENSP00000507496.1:n.*73+282_*73+283delinsGT
ENST00000684010.1:n.4818+282_4818+283delinsGT
ENST00000684014.1:n.795+282_795+283delinsGT
ENST00000684157.1:n.5808+282_5808+283delinsGT
ENST00000684253.1:n.4726+282_4726+283delinsGT
ENST00000684288.1:c.*2780+282_*2780+283delinsGT	ENSP00000507143.1:n.*2780+282_*2780+283delinsGT
ENST00000684313.1:n.4255+282_4255+283delinsGT
ENST00000684332.1:n.4896+282_4896+283delinsGT
ENST00000684371.1:n.4929+282_4929+283delinsGT
ENST00000684404.1:n.5851+282_5851+283delinsGT
ENST00000684442.1:n.5047+282_5047+283delinsGT
ENST00000684555.1:c.*2820+282_*2820+283delinsGT	ENSP00000507705.1:n.*2820+282_*2820+283delinsGT
ENST00000684571.1:c.4449+282_4449+283delinsGT	ENSP00000506935.1:n.4449+282_4449+283delinsGT
ENST00000684593.1:c.*4313+282_*4313+283delinsGT	ENSP00000507005.1:n.*4313+282_*4313+283delinsGT
ENST00000684711.1:c.*3004+282_*3004+283delinsGT	ENSP00000506841.1:n.*3004+282_*3004+283delinsGT
ENST00000302539.9:c.4611+282_4611+283delinsGT	ENSP00000303960.4:n.4611+282_4611+283delinsGT
ENST00000389817.8:c.4608+282_4608+283delinsGT MANE Select	ENSP00000374467.4:n.4608+282_4608+283delinsGT
ENST00000642271.1:c.4605+282_4605+283delinsGT	ENSP00000493749.1:n.4605+282_4605+283delinsGT
ENST00000642579.1:c.2662+282_2662+283delinsGT
ENST00000642611.1:n.5826+282_5826+283delinsGT
ENST00000642902.1:c.4390+282_4390+283delinsGT
ENST00000643260.1:c.4608+282_4608+283delinsGT	ENSP00000494450.1:n.4608+282_4608+283delinsGT
ENST00000643562.1:c.*2730+282_*2730+283delinsGT	ENSP00000496124.1:n.*2730+282_*2730+283delinsGT
ENST00000643925.1:c.3186-287_3186-286delinsGT
ENST00000644057.1:n.767+282_767+283delinsGT
ENST00000644484.1:c.*3994+282_*3994+283delinsGT	ENSP00000493558.1:n.*3994+282_*3994+283delinsGT
ENST00000644675.1:c.*2780+282_*2780+283delinsGT	ENSP00000494567.1:n.*2780+282_*2780+283delinsGT
ENST00000644757.1:c.*3203-435_*3203-434delinsGT	ENSP00000495085.1:n.*3203-435_*3203-434delinsGT
ENST00000644772.1:c.4674+282_4674+283delinsGT	ENSP00000494321.1:n.4674+282_4674+283delinsGT
ENST00000645004.1:n.2301+282_2301+283delinsGT
ENST00000645076.1:c.3703+282_3703+283delinsGT
ENST00000645417.1:c.1796+282_1796+283delinsGT
ENST00000645744.1:c.*4293+282_*4293+283delinsGT	ENSP00000494564.1:n.*4293+282_*4293+283delinsGT
ENST00000645760.1:c.5029+282_5029+283delinsGT
ENST00000645884.1:c.*1891+282_*1891+283delinsGT	ENSP00000495516.1:n.*1891+282_*1891+283delinsGT
ENST00000646003.1:c.*2630+282_*2630+283delinsGT	ENSP00000495259.1:n.*2630+282_*2630+283delinsGT
ENST00000646207.1:c.*3445+282_*3445+283delinsGT	ENSP00000495025.1:n.*3445+282_*3445+283delinsGT
ENST00000646276.1:c.*4012+282_*4012+283delinsGT	ENSP00000496070.1:n.*4012+282_*4012+283delinsGT
ENST00000646592.1:c.3914+282_3914+283delinsGT
ENST00000646902.1:c.4575+282_4575+283delinsGT	ENSP00000494101.1:n.4575+282_4575+283delinsGT
ENST00000646993.1:c.*3046+282_*3046+283delinsGT	ENSP00000493720.1:n.*3046+282_*3046+283delinsGT
ENST00000647015.1:c.4359+282_4359+283delinsGT	ENSP00000495389.1:n.4359+282_4359+283delinsGT
ENST00000647086.1:c.*4194+282_*4194+283delinsGT	ENSP00000493677.1:n.*4194+282_*4194+283delinsGT
ENST00000647158.1:c.*2895+282_*2895+283delinsGT	ENSP00000495744.1:n.*2895+282_*2895+283delinsGT
ENST00000302539.8:c.4611+282_4611+283delinsGT	ENSP00000303960.4:n.4611+282_4611+283delinsGT
ENST00000389817.7:c.4608+282_4608+283delinsGT	ENSP00000374467.3:n.4608+282_4608+283delinsGT
ENST00000525022.1:n.504-203_504-202delinsGT
ENST00000526037.5:n.368+282_368+283delinsGT
ENST00000526168.5:c.396+282_396+283delinsGT
ENST00000531642.5:c.639+282_639+283delinsGT
NM_000352.4:c.4608+282_4608+283delinsGT	NP_000343.2:n.4608+282_4608+283delinsGT
NM_001287174.1:c.4611+282_4611+283delinsGT	NP_001274103.1:n.4611+282_4611+283delinsGT
XM_011520331.1:c.4608+282_4608+283delinsGT	XP_011518633.1:n.4608+282_4608+283delinsGT
XM_011520333.1:c.3108+282_3108+283delinsGT	XP_011518635.1:n.3108+282_3108+283delinsGT
XR_930890.1:n.4570+282_4570+283delinsGT
NM_001351295.1:c.4674+282_4674+283delinsGT	NP_001338224.1:n.4674+282_4674+283delinsGT
NM_001351296.1:c.4608+282_4608+283delinsGT	NP_001338225.1:n.4608+282_4608+283delinsGT
NM_001351297.1:c.4605+282_4605+283delinsGT	NP_001338226.1:n.4605+282_4605+283delinsGT
NR_147094.1:n.4903+282_4903+283delinsGT
XM_017018197.2:c.4677+282_4677+283delinsGT	XP_016873686.1:n.4677+282_4677+283delinsGT
XM_017018199.1:c.4674+282_4674+283delinsGT	XP_016873688.1:n.4674+282_4674+283delinsGT
XM_017018202.1:c.3174+282_3174+283delinsGT	XP_016873691.1:n.3174+282_3174+283delinsGT
XM_017018204.1:c.2565+282_2565+283delinsGT	XP_016873693.1:n.2565+282_2565+283delinsGT
XM_024448668.1:c.2976+282_2976+283delinsGT	XP_024304436.1:n.2976+282_2976+283delinsGT
XR_001747945.2:n.4645+282_4645+283delinsGT
XR_001747946.2:n.4576+282_4576+283delinsGT
XR_002957189.1:n.6359+282_6359+283delinsGT
NM_000352.6:c.4608+282_4608+283delinsGT MANE Select	NP_000343.2:n.4608+282_4608+283delinsGT
NM_001287174.2:c.4611+282_4611+283delinsGT	NP_001274103.1:n.4611+282_4611+283delinsGT
NM_001351295.2:c.4674+282_4674+283delinsGT	NP_001338224.1:n.4674+282_4674+283delinsGT
NM_001351296.2:c.4608+282_4608+283delinsGT	NP_001338225.1:n.4608+282_4608+283delinsGT
NM_001351297.2:c.4605+282_4605+283delinsGT	NP_001338226.1:n.4605+282_4605+283delinsGT
NR_147094.2:n.4903+282_4903+283delinsGT
NM_001287174.3:c.4611+282_4611+283delinsGT	NP_001274103.1:n.4611+282_4611+283delinsGT