Canonical Allele Identifier: CA658822170

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 557081
• ClinVar RCV Id: RCV000673172 ; RCV002245571 ; RCV002245570
• dbSNP Id: rs1554905787
• MyVariant Identifiers: chr11:g.17397008_17397009insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397008_17397009insG , CM000673.2:g.17397008_17397009insG	GRCh38
NC_000011.9:g.17418555_17418556insG , CM000673.1:g.17418555_17418556insG	GRCh37
NC_000011.8:g.17375131_17375132insG	NCBI36
NG_008867.1:g.84894_84895insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3627_3628insC
ENST00000528374.2:c.617_618insC
ENST00000529967.6:n.2365_2366insC
ENST00000532220.2:n.2274_2275insC
ENST00000642611.2:n.4241_4242insC
ENST00000644057.2:n.469_470insC
ENST00000645004.2:n.1525_1526insC
ENST00000682051.1:n.4188_4189insC
ENST00000682110.1:n.4241_4242insC
ENST00000682140.1:c.3985+184_3985+185insC	ENSP00000507829.1:n.3985+184_3985+185insC
ENST00000682185.1:n.5331_5332insC
ENST00000682204.1:c.*2164_*2165insC	ENSP00000507094.1:n.*2164_*2165insC
ENST00000682215.1:n.4608_4609insC
ENST00000682288.1:c.*2457_*2458insC	ENSP00000507506.1:n.*2457_*2458insC
ENST00000682442.1:n.4461_4462insC
ENST00000682528.1:n.4318_4319insC
ENST00000682673.1:n.4185_4186insC
ENST00000682805.1:n.4608_4609insC
ENST00000682965.1:c.*448_*449insC	ENSP00000508229.1:n.*448_*449insC
ENST00000683093.1:n.4340_4341insC
ENST00000683136.1:c.3909_3910insC	ENSP00000507768.1:p.Lys1304GlnfsTer?
ENST00000683153.1:n.4283_4284insC
ENST00000683365.1:n.4343_4344insC
ENST00000683377.1:n.4241_4242insC
ENST00000683456.1:c.*1163_*1164insC	ENSP00000508318.1:n.*1163_*1164insC
ENST00000683522.1:n.4241_4242insC
ENST00000683562.1:c.*2195_*2196insC	ENSP00000508265.1:n.*2195_*2196insC
ENST00000683693.1:n.4688_4689insC
ENST00000683725.1:c.4026_4027insC	ENSP00000507496.1:p.Lys1343GlnfsTer?
ENST00000684010.1:n.4236_4237insC
ENST00000684157.1:n.4241_4242insC
ENST00000684253.1:n.4144_4145insC
ENST00000684288.1:c.*2198_*2199insC	ENSP00000507143.1:n.*2198_*2199insC
ENST00000684313.1:n.3673_3674insC
ENST00000684332.1:n.4314_4315insC
ENST00000684371.1:n.4347_4348insC
ENST00000684404.1:n.4284_4285insC
ENST00000684442.1:n.4465_4466insC
ENST00000684555.1:c.*2238_*2239insC	ENSP00000507705.1:n.*2238_*2239insC
ENST00000684571.1:c.3867_3868insC	ENSP00000506935.1:p.Lys1290GlnfsTer?
ENST00000684593.1:c.*3731_*3732insC	ENSP00000507005.1:n.*3731_*3732insC
ENST00000684711.1:c.*2422_*2423insC	ENSP00000506841.1:n.*2422_*2423insC
ENST00000302539.9:c.4029_4030insC	ENSP00000303960.4:p.Lys1344GlnfsTer?
ENST00000389817.8:c.4026_4027insC MANE Select	ENSP00000374467.4:p.Lys1343GlnfsTer?
ENST00000642271.1:c.4023_4024insC	ENSP00000493749.1:p.Lys1342GlnfsTer?
ENST00000642579.1:c.2080_2081insC
ENST00000642611.1:n.4126_4127insC
ENST00000642902.1:c.3808_3809insC
ENST00000643260.1:c.4026_4027insC	ENSP00000494450.1:p.Lys1343GlnfsTer?
ENST00000643562.1:c.*2148_*2149insC	ENSP00000496124.1:n.*2148_*2149insC
ENST00000643925.1:c.2666_2667insC
ENST00000644057.1:n.103_104insC
ENST00000644484.1:c.*2427_*2428insC	ENSP00000493558.1:n.*2427_*2428insC
ENST00000644675.1:c.*2198_*2199insC	ENSP00000494567.1:n.*2198_*2199insC
ENST00000644757.1:c.*2457_*2458insC	ENSP00000495085.1:n.*2457_*2458insC
ENST00000644772.1:c.4092_4093insC	ENSP00000494321.1:p.Lys1365GlnfsTer?
ENST00000645004.1:n.1681_1682insC
ENST00000645076.1:c.3225_3226insC
ENST00000645417.1:c.1214_1215insC
ENST00000645744.1:c.*2806_*2807insC	ENSP00000494564.1:n.*2806_*2807insC
ENST00000645760.1:c.4447_4448insC
ENST00000645884.1:c.*1309_*1310insC	ENSP00000495516.1:n.*1309_*1310insC
ENST00000646003.1:c.*2128_*2129insC	ENSP00000495259.1:n.*2128_*2129insC
ENST00000646207.1:c.*2863_*2864insC	ENSP00000495025.1:n.*2863_*2864insC
ENST00000646276.1:c.*2445_*2446insC	ENSP00000496070.1:n.*2445_*2446insC
ENST00000646592.1:c.3332_3333insC
ENST00000646902.1:c.3993_3994insC	ENSP00000494101.1:p.Lys1332GlnfsTer?
ENST00000646993.1:c.*2568_*2569insC	ENSP00000493720.1:n.*2568_*2569insC
ENST00000647013.1:c.4032_4033insC	ENSP00000496741.1:n.4032_4033insC
ENST00000647015.1:c.3777_3778insC	ENSP00000495389.1:p.Lys1260GlnfsTer?
ENST00000647086.1:c.*3612_*3613insC	ENSP00000493677.1:n.*3612_*3613insC
ENST00000647158.1:c.*2313_*2314insC	ENSP00000495744.1:n.*2313_*2314insC
ENST00000302539.8:c.4029_4030insC	ENSP00000303960.4:p.Lys1344GlnfsTer?
ENST00000389817.7:c.4026_4027insC	ENSP00000374467.3:p.Lys1343GlnfsTer?
ENST00000527905.5:c.*1048_*1049insC	ENSP00000431653.1:n.*1048_*1049insC
ENST00000528374.1:c.508_509insC
ENST00000531137.1:n.591_592insC
ENST00000531891.1:c.364_365insC
ENST00000532220.1:n.500_501insC
NM_000352.4:c.4026_4027insC	NP_000343.2:p.Lys1343GlnfsTer?
NM_001287174.1:c.4029_4030insC	NP_001274103.1:p.Lys1344GlnfsTer?
XM_011520331.1:c.4026_4027insC	XP_011518633.1:p.Lys1343GlnfsTer?
XM_011520332.1:c.4029_4030insC	XP_011518634.1:p.Lys1344GlnfsTer?
XM_011520333.1:c.2526_2527insC	XP_011518635.1:p.Lys843GlnfsTer?
XR_930890.1:n.4092_4093insC
NM_001351295.1:c.4092_4093insC	NP_001338224.1:p.Lys1365GlnfsTer?
NM_001351296.1:c.4026_4027insC	NP_001338225.1:p.Lys1343GlnfsTer?
NM_001351297.1:c.4023_4024insC	NP_001338226.1:p.Lys1342GlnfsTer?
NR_147094.1:n.4321_4322insC
XM_017018197.2:c.4095_4096insC	XP_016873686.1:p.Lys1366GlnfsTer?
XM_017018199.1:c.4092_4093insC	XP_016873688.1:p.Lys1365GlnfsTer?
XM_017018201.2:c.4095_4096insC	XP_016873690.1:p.Lys1366GlnfsTer?
XM_017018202.1:c.2592_2593insC	XP_016873691.1:p.Lys865GlnfsTer?
XM_017018204.1:c.1983_1984insC	XP_016873693.1:p.Lys662GlnfsTer?
XM_024448668.1:c.2394_2395insC	XP_024304436.1:p.Lys799GlnfsTer?
XR_001747945.2:n.4167_4168insC
XR_001747946.2:n.4098_4099insC
XR_002957189.1:n.4763_4764insC
NM_000352.6:c.4026_4027insC MANE Select	NP_000343.2:p.Lys1343GlnfsTer?
NM_001287174.2:c.4029_4030insC	NP_001274103.1:p.Lys1344GlnfsTer?
NM_001351295.2:c.4092_4093insC	NP_001338224.1:p.Lys1365GlnfsTer?
NM_001351296.2:c.4026_4027insC	NP_001338225.1:p.Lys1343GlnfsTer?
NM_001351297.2:c.4023_4024insC	NP_001338226.1:p.Lys1342GlnfsTer?
NR_147094.2:n.4321_4322insC
NM_001287174.3:c.4029_4030insC	NP_001274103.1:p.Lys1344GlnfsTer?