Canonical Allele Identifier: CA2790588190

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395682_17395683insCGCGGCCCTCGCGGTAGAACTCGCT , CM000673.2:g.17395682_17395683insCGCGGCCCTCGCGGTAGAACTCGCT	GRCh38
NC_000011.9:g.17417229_17417230insCGCGGCCCTCGCGGTAGAACTCGCT , CM000673.1:g.17417229_17417230insCGCGGCCCTCGCGGTAGAACTCGCT	GRCh37
NC_000011.8:g.17373805_17373806insCGCGGCCCTCGCGGTAGAACTCGCT	NCBI36
NG_008867.1:g.86220_86221insAGCGAGTTCTACCGCGAGGGCCGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3835_3836insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000528374.2:c.825_826insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000529967.6:n.2573_2574insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000532220.2:n.3467_3468insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000642611.2:n.5567_5568insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000644057.2:n.810_811insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000645004.2:n.1733_1734insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000682051.1:n.4396_4397insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000682110.1:n.4449_4450insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000682140.1:c.*20_*21insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000507829.1:n.*20_*21insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000682185.1:n.5539_5540insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000682204.1:c.*2372_*2373insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000507094.1:n.*2372_*2373insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000682215.1:n.4816_4817insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000682288.1:c.*2665_*2666insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000507506.1:n.*2665_*2666insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000682442.1:n.4669_4670insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000682528.1:n.4526_4527insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000682673.1:n.4393_4394insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000682805.1:n.4854_4855insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000682965.1:c.*656_*657insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000508229.1:n.*656_*657insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000683093.1:n.5533_5534insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000683136.1:c.4117_4118insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000507768.1:p.Leu1373GlnfsTer35
ENST00000683153.1:n.4491_4492insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000683365.1:n.4551_4552insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000683377.1:n.4449_4450insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000683456.1:c.*1371_*1372insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000508318.1:n.*1371_*1372insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000683522.1:n.4449_4450insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000683562.1:c.*2403_*2404insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000508265.1:n.*2403_*2404insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000683693.1:n.6014_6015insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000683725.1:c.4234_4235insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000507496.1:p.Leu1412GlnfsTer?
ENST00000684010.1:n.4444_4445insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000684157.1:n.5434_5435insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000684253.1:n.4352_4353insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000684288.1:c.*2406_*2407insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000507143.1:n.*2406_*2407insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000684313.1:n.3881_3882insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000684332.1:n.4522_4523insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000684371.1:n.4555_4556insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000684404.1:n.5477_5478insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000684442.1:n.4673_4674insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000684555.1:c.*2446_*2447insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000507705.1:n.*2446_*2447insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000684571.1:c.4075_4076insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000506935.1:p.Leu1359GlnfsTer35
ENST00000684593.1:c.*3939_*3940insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000507005.1:n.*3939_*3940insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000684711.1:c.*2630_*2631insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000506841.1:n.*2630_*2631insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000302539.9:c.4237_4238insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000303960.4:p.Leu1413GlnfsTer35
ENST00000389817.8:c.4234_4235insAGCGAGTTCTACCGCGAGGGCCGCG MANE Select	ENSP00000374467.4:p.Leu1412GlnfsTer35
ENST00000642271.1:c.4231_4232insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000493749.1:p.Leu1411GlnfsTer35
ENST00000642579.1:c.2288_2289insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000642611.1:n.5452_5453insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000642902.1:c.4016_4017insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000643260.1:c.4234_4235insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000494450.1:p.Leu1412GlnfsTer35
ENST00000643562.1:c.*2356_*2357insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000496124.1:n.*2356_*2357insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000643925.1:c.2874_2875insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000644057.1:n.311_312insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000644484.1:c.*3620_*3621insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000493558.1:n.*3620_*3621insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000644675.1:c.*2406_*2407insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000494567.1:n.*2406_*2407insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000644757.1:c.*3202+581_*3202+582insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000495085.1:n.*3202+581_*3202+582insAGCGAGTTCTACCGCGAGG...
ENST00000644772.1:c.4300_4301insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000494321.1:p.Leu1434GlnfsTer35
ENST00000645004.1:n.1927_1928insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000645076.1:c.3433_3434insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000645417.1:c.1422_1423insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000645744.1:c.*3964-45_*3964-44insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000494564.1:n.*3964-45_*3964-44insAGCGAGTTCTACCGCGAGGGC...
ENST00000645760.1:c.4655_4656insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000645884.1:c.*1517_*1518insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000495516.1:n.*1517_*1518insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000646003.1:c.*2301-45_*2301-44insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000495259.1:n.*2301-45_*2301-44insAGCGAGTTCTACCGCGAGGGC...
ENST00000646207.1:c.*3071_*3072insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000495025.1:n.*3071_*3072insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000646276.1:c.*3638_*3639insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000496070.1:n.*3638_*3639insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000646592.1:c.3540_3541insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000646902.1:c.4201_4202insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000494101.1:p.Leu1401GlnfsTer35
ENST00000646993.1:c.*2776_*2777insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000493720.1:n.*2776_*2777insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000647013.1:c.4240_4241insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000496741.1:n.4240_4241insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000647015.1:c.3985_3986insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000495389.1:p.Leu1329GlnfsTer35
ENST00000647086.1:c.*3820_*3821insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000493677.1:n.*3820_*3821insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000647158.1:c.*2521_*2522insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000495744.1:n.*2521_*2522insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000302539.8:c.4237_4238insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000303960.4:p.Leu1413GlnfsTer35
ENST00000389817.7:c.4234_4235insAGCGAGTTCTACCGCGAGGGCCGCG	ENSP00000374467.3:p.Leu1412GlnfsTer35
ENST00000525022.1:n.233_234insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000526037.5:n.98_99insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000526168.5:c.67-45_67-44insAGCGAGTTCTACCGCGAGGGCCGCG
ENST00000531642.5:c.70_71insAGCGAGTTCTACCGCGAGGGCCGCG
NM_000352.4:c.4234_4235insAGCGAGTTCTACCGCGAGGGCCGCG	NP_000343.2:p.Leu1412GlnfsTer35
NM_001287174.1:c.4237_4238insAGCGAGTTCTACCGCGAGGGCCGCG	NP_001274103.1:p.Leu1413GlnfsTer35
XM_011520331.1:c.4234_4235insAGCGAGTTCTACCGCGAGGGCCGCG	XP_011518633.1:p.Leu1412GlnfsTer35
XM_011520332.1:c.4237_4238insAGCGAGTTCTACCGCGAGGGCCGCG	XP_011518634.1:p.Leu1413GlnfsTer?
XM_011520333.1:c.2734_2735insAGCGAGTTCTACCGCGAGGGCCGCG	XP_011518635.1:p.Leu912GlnfsTer35
XR_930890.1:n.4300_4301insAGCGAGTTCTACCGCGAGGGCCGCG
NM_001351295.1:c.4300_4301insAGCGAGTTCTACCGCGAGGGCCGCG	NP_001338224.1:p.Leu1434GlnfsTer35
NM_001351296.1:c.4234_4235insAGCGAGTTCTACCGCGAGGGCCGCG	NP_001338225.1:p.Leu1412GlnfsTer35
NM_001351297.1:c.4231_4232insAGCGAGTTCTACCGCGAGGGCCGCG	NP_001338226.1:p.Leu1411GlnfsTer35
NR_147094.1:n.4529_4530insAGCGAGTTCTACCGCGAGGGCCGCG
XM_017018197.2:c.4303_4304insAGCGAGTTCTACCGCGAGGGCCGCG	XP_016873686.1:p.Leu1435GlnfsTer35
XM_017018199.1:c.4300_4301insAGCGAGTTCTACCGCGAGGGCCGCG	XP_016873688.1:p.Leu1434GlnfsTer35
XM_017018201.2:c.4303_4304insAGCGAGTTCTACCGCGAGGGCCGCG	XP_016873690.1:p.Leu1435GlnfsTer?
XM_017018202.1:c.2800_2801insAGCGAGTTCTACCGCGAGGGCCGCG	XP_016873691.1:p.Leu934GlnfsTer35
XM_017018204.1:c.2191_2192insAGCGAGTTCTACCGCGAGGGCCGCG	XP_016873693.1:p.Leu731GlnfsTer35
XM_024448668.1:c.2602_2603insAGCGAGTTCTACCGCGAGGGCCGCG	XP_024304436.1:p.Leu868GlnfsTer35
XR_001747945.2:n.4375_4376insAGCGAGTTCTACCGCGAGGGCCGCG
XR_001747946.2:n.4306_4307insAGCGAGTTCTACCGCGAGGGCCGCG
XR_002957189.1:n.6089_6090insAGCGAGTTCTACCGCGAGGGCCGCG
NM_000352.6:c.4234_4235insAGCGAGTTCTACCGCGAGGGCCGCG MANE Select	NP_000343.2:p.Leu1412GlnfsTer35
NM_001287174.2:c.4237_4238insAGCGAGTTCTACCGCGAGGGCCGCG	NP_001274103.1:p.Leu1413GlnfsTer35
NM_001351295.2:c.4300_4301insAGCGAGTTCTACCGCGAGGGCCGCG	NP_001338224.1:p.Leu1434GlnfsTer35
NM_001351296.2:c.4234_4235insAGCGAGTTCTACCGCGAGGGCCGCG	NP_001338225.1:p.Leu1412GlnfsTer35
NM_001351297.2:c.4231_4232insAGCGAGTTCTACCGCGAGGGCCGCG	NP_001338226.1:p.Leu1411GlnfsTer35
NR_147094.2:n.4529_4530insAGCGAGTTCTACCGCGAGGGCCGCG
NM_001287174.3:c.4237_4238insAGCGAGTTCTACCGCGAGGGCCGCG	NP_001274103.1:p.Leu1413GlnfsTer35