Canonical Allele Identifier: CA1955123996

Gene: ABCC8

Linked Data

• dbSNP Id: rs1953974486

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397125_17397126insGTGG , CM000673.2:g.17397125_17397126insGTGG	GRCh38
NC_000011.9:g.17418672_17418673insGTGG , CM000673.1:g.17418672_17418673insGTGG	GRCh37
NC_000011.8:g.17375248_17375249insGTGG	NCBI36
NG_008867.1:g.84777_84778insCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3510_3511insCCAC
ENST00000528374.2:c.568-68_568-67insCCAC
ENST00000529967.6:n.2327+67_2327+68insCCAC
ENST00000532220.2:n.2157_2158insCCAC
ENST00000642611.2:n.4124_4125insCCAC
ENST00000644057.2:n.431+67_431+68insCCAC
ENST00000645004.2:n.1487+67_1487+68insCCAC
ENST00000682051.1:n.4071_4072insCCAC
ENST00000682110.1:n.4124_4125insCCAC
ENST00000682140.1:c.3985+67_3985+68insCCAC	ENSP00000507829.1:n.3985+67_3985+68insCCAC
ENST00000682185.1:n.5293+67_5293+68insCCAC
ENST00000682204.1:c.*2126+67_*2126+68insCCAC	ENSP00000507094.1:n.*2126+67_*2126+68insCCAC
ENST00000682215.1:n.4491_4492insCCAC
ENST00000682288.1:c.*2419+67_*2419+68insCCAC	ENSP00000507506.1:n.*2419+67_*2419+68insCCAC
ENST00000682442.1:n.4344_4345insCCAC
ENST00000682528.1:n.4201_4202insCCAC
ENST00000682673.1:n.4068_4069insCCAC
ENST00000682805.1:n.4491_4492insCCAC
ENST00000682965.1:c.*410+67_*410+68insCCAC	ENSP00000508229.1:n.*410+67_*410+68insCCAC
ENST00000683093.1:n.4223_4224insCCAC
ENST00000683136.1:c.3871+67_3871+68insCCAC	ENSP00000507768.1:n.3871+67_3871+68insCCAC
ENST00000683153.1:n.4166_4167insCCAC
ENST00000683365.1:n.4226_4227insCCAC
ENST00000683377.1:n.4124_4125insCCAC
ENST00000683456.1:c.*1125+67_*1125+68insCCAC	ENSP00000508318.1:n.*1125+67_*1125+68insCCAC
ENST00000683522.1:n.4124_4125insCCAC
ENST00000683562.1:c.*2157+67_*2157+68insCCAC	ENSP00000508265.1:n.*2157+67_*2157+68insCCAC
ENST00000683693.1:n.4571_4572insCCAC
ENST00000683725.1:c.3988+67_3988+68insCCAC	ENSP00000507496.1:n.3988+67_3988+68insCCAC
ENST00000684010.1:n.4119_4120insCCAC
ENST00000684157.1:n.4124_4125insCCAC
ENST00000684253.1:n.4027_4028insCCAC
ENST00000684288.1:c.*2160+67_*2160+68insCCAC	ENSP00000507143.1:n.*2160+67_*2160+68insCCAC
ENST00000684313.1:n.3556_3557insCCAC
ENST00000684332.1:n.4197_4198insCCAC
ENST00000684371.1:n.4230_4231insCCAC
ENST00000684404.1:n.4167_4168insCCAC
ENST00000684442.1:n.4427+67_4427+68insCCAC
ENST00000684555.1:c.*2200+67_*2200+68insCCAC	ENSP00000507705.1:n.*2200+67_*2200+68insCCAC
ENST00000684571.1:c.3829+67_3829+68insCCAC	ENSP00000506935.1:n.3829+67_3829+68insCCAC
ENST00000684593.1:c.*3693+67_*3693+68insCCAC	ENSP00000507005.1:n.*3693+67_*3693+68insCCAC
ENST00000684711.1:c.*2384+67_*2384+68insCCAC	ENSP00000506841.1:n.*2384+67_*2384+68insCCAC
ENST00000302539.9:c.3991+67_3991+68insCCAC	ENSP00000303960.4:n.3991+67_3991+68insCCAC
ENST00000389817.8:c.3988+67_3988+68insCCAC MANE Select	ENSP00000374467.4:n.3988+67_3988+68insCCAC
ENST00000642271.1:c.3985+67_3985+68insCCAC	ENSP00000493749.1:n.3985+67_3985+68insCCAC
ENST00000642579.1:c.2072+67_2072+68insCCAC
ENST00000642611.1:n.4009_4010insCCAC
ENST00000642902.1:c.3770+67_3770+68insCCAC
ENST00000643260.1:c.3988+67_3988+68insCCAC	ENSP00000494450.1:n.3988+67_3988+68insCCAC
ENST00000643562.1:c.*2031_*2032insCCAC	ENSP00000496124.1:n.*2031_*2032insCCAC
ENST00000643925.1:c.2549_2550insCCAC
ENST00000644484.1:c.*2310_*2311insCCAC	ENSP00000493558.1:n.*2310_*2311insCCAC
ENST00000644675.1:c.*2160+67_*2160+68insCCAC	ENSP00000494567.1:n.*2160+67_*2160+68insCCAC
ENST00000644757.1:c.*2340_*2341insCCAC	ENSP00000495085.1:n.*2340_*2341insCCAC
ENST00000644772.1:c.4054+67_4054+68insCCAC	ENSP00000494321.1:n.4054+67_4054+68insCCAC
ENST00000645004.1:n.1564_1565insCCAC
ENST00000645076.1:c.3187+67_3187+68insCCAC
ENST00000645417.1:c.1176+67_1176+68insCCAC
ENST00000645744.1:c.*2689_*2690insCCAC	ENSP00000494564.1:n.*2689_*2690insCCAC
ENST00000645760.1:c.4330_4331insCCAC
ENST00000645884.1:c.*1192_*1193insCCAC	ENSP00000495516.1:n.*1192_*1193insCCAC
ENST00000646003.1:c.*2011_*2012insCCAC	ENSP00000495259.1:n.*2011_*2012insCCAC
ENST00000646207.1:c.*2825+67_*2825+68insCCAC	ENSP00000495025.1:n.*2825+67_*2825+68insCCAC
ENST00000646276.1:c.*2328_*2329insCCAC	ENSP00000496070.1:n.*2328_*2329insCCAC
ENST00000646592.1:c.3294+67_3294+68insCCAC
ENST00000646902.1:c.3985+67_3985+68insCCAC	ENSP00000494101.1:n.3985+67_3985+68insCCAC
ENST00000646993.1:c.*2451_*2452insCCAC	ENSP00000493720.1:n.*2451_*2452insCCAC
ENST00000647013.1:c.3994+67_3994+68insCCAC	ENSP00000496741.1:n.3994+67_3994+68insCCAC
ENST00000647015.1:c.3739+67_3739+68insCCAC	ENSP00000495389.1:n.3739+67_3739+68insCCAC
ENST00000647086.1:c.*3604+67_*3604+68insCCAC	ENSP00000493677.1:n.*3604+67_*3604+68insCCAC
ENST00000647158.1:c.*2196_*2197insCCAC	ENSP00000495744.1:n.*2196_*2197insCCAC
ENST00000302539.8:c.3991+67_3991+68insCCAC	ENSP00000303960.4:n.3991+67_3991+68insCCAC
ENST00000389817.7:c.3988+67_3988+68insCCAC	ENSP00000374467.3:n.3988+67_3988+68insCCAC
ENST00000527905.5:c.*931_*932insCCAC	ENSP00000431653.1:n.*931_*932insCCAC
ENST00000528374.1:c.459-68_459-67insCCAC
ENST00000531137.1:n.474_475insCCAC
ENST00000531891.1:c.356+67_356+68insCCAC
ENST00000532220.1:n.383_384insCCAC
NM_000352.4:c.3988+67_3988+68insCCAC	NP_000343.2:n.3988+67_3988+68insCCAC
NM_001287174.1:c.3991+67_3991+68insCCAC	NP_001274103.1:n.3991+67_3991+68insCCAC
XM_011520331.1:c.3988+67_3988+68insCCAC	XP_011518633.1:n.3988+67_3988+68insCCAC
XM_011520332.1:c.3991+67_3991+68insCCAC	XP_011518634.1:n.3991+67_3991+68insCCAC
XM_011520333.1:c.2488+67_2488+68insCCAC	XP_011518635.1:n.2488+67_2488+68insCCAC
XR_930890.1:n.4054+67_4054+68insCCAC
NM_001351295.1:c.4054+67_4054+68insCCAC	NP_001338224.1:n.4054+67_4054+68insCCAC
NM_001351296.1:c.3988+67_3988+68insCCAC	NP_001338225.1:n.3988+67_3988+68insCCAC
NM_001351297.1:c.3985+67_3985+68insCCAC	NP_001338226.1:n.3985+67_3985+68insCCAC
NR_147094.1:n.4204_4205insCCAC
XM_017018197.2:c.4057+67_4057+68insCCAC	XP_016873686.1:n.4057+67_4057+68insCCAC
XM_017018199.1:c.4054+67_4054+68insCCAC	XP_016873688.1:n.4054+67_4054+68insCCAC
XM_017018201.2:c.4057+67_4057+68insCCAC	XP_016873690.1:n.4057+67_4057+68insCCAC
XM_017018202.1:c.2554+67_2554+68insCCAC	XP_016873691.1:n.2554+67_2554+68insCCAC
XM_017018204.1:c.1945+67_1945+68insCCAC	XP_016873693.1:n.1945+67_1945+68insCCAC
XM_024448668.1:c.2356+67_2356+68insCCAC	XP_024304436.1:n.2356+67_2356+68insCCAC
XR_001747945.2:n.4129+67_4129+68insCCAC
XR_001747946.2:n.4060+67_4060+68insCCAC
XR_002957189.1:n.4646_4647insCCAC
NM_000352.6:c.3988+67_3988+68insCCAC MANE Select	NP_000343.2:n.3988+67_3988+68insCCAC
NM_001287174.2:c.3991+67_3991+68insCCAC	NP_001274103.1:n.3991+67_3991+68insCCAC
NM_001351295.2:c.4054+67_4054+68insCCAC	NP_001338224.1:n.4054+67_4054+68insCCAC
NM_001351296.2:c.3988+67_3988+68insCCAC	NP_001338225.1:n.3988+67_3988+68insCCAC
NM_001351297.2:c.3985+67_3985+68insCCAC	NP_001338226.1:n.3985+67_3985+68insCCAC
NR_147094.2:n.4204_4205insCCAC
NM_001287174.3:c.3991+67_3991+68insCCAC	NP_001274103.1:n.3991+67_3991+68insCCAC