Canonical Allele Identifier: CA2580082815

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1726804
• ClinVar RCV Id: RCV002310488

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395696_17395697insCCTGT , CM000673.2:g.17395696_17395697insCCTGT	GRCh38
NC_000011.9:g.17417243_17417244insCCTGT , CM000673.1:g.17417243_17417244insCCTGT	GRCh37
NC_000011.8:g.17373819_17373820insCCTGT	NCBI36
NG_008867.1:g.86206_86207insACAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3821_3822insACAGG
ENST00000528374.2:c.811_812insACAGG
ENST00000529967.6:n.2559_2560insACAGG
ENST00000532220.2:n.3453_3454insACAGG
ENST00000642611.2:n.5553_5554insACAGG
ENST00000644057.2:n.796_797insACAGG
ENST00000645004.2:n.1719_1720insACAGG
ENST00000682051.1:n.4382_4383insACAGG
ENST00000682110.1:n.4435_4436insACAGG
ENST00000682140.1:c.*6_*7insACAGG	ENSP00000507829.1:n.*6_*7insACAGG
ENST00000682185.1:n.5525_5526insACAGG
ENST00000682204.1:c.*2358_*2359insACAGG	ENSP00000507094.1:n.*2358_*2359insACAGG
ENST00000682215.1:n.4802_4803insACAGG
ENST00000682288.1:c.*2651_*2652insACAGG	ENSP00000507506.1:n.*2651_*2652insACAGG
ENST00000682442.1:n.4655_4656insACAGG
ENST00000682528.1:n.4512_4513insACAGG
ENST00000682673.1:n.4379_4380insACAGG
ENST00000682805.1:n.4840_4841insACAGG
ENST00000682965.1:c.*642_*643insACAGG	ENSP00000508229.1:n.*642_*643insACAGG
ENST00000683093.1:n.5519_5520insACAGG
ENST00000683136.1:c.4103_4104insACAGG	ENSP00000507768.1:p.Asp1369GlnfsTer?
ENST00000683153.1:n.4477_4478insACAGG
ENST00000683365.1:n.4537_4538insACAGG
ENST00000683377.1:n.4435_4436insACAGG
ENST00000683456.1:c.*1357_*1358insACAGG	ENSP00000508318.1:n.*1357_*1358insACAGG
ENST00000683522.1:n.4435_4436insACAGG
ENST00000683562.1:c.*2389_*2390insACAGG	ENSP00000508265.1:n.*2389_*2390insACAGG
ENST00000683693.1:n.6000_6001insACAGG
ENST00000683725.1:c.4220_4221insACAGG	ENSP00000507496.1:p.Asp1408GlnfsTer?
ENST00000684010.1:n.4430_4431insACAGG
ENST00000684157.1:n.5420_5421insACAGG
ENST00000684253.1:n.4338_4339insACAGG
ENST00000684288.1:c.*2392_*2393insACAGG	ENSP00000507143.1:n.*2392_*2393insACAGG
ENST00000684313.1:n.3867_3868insACAGG
ENST00000684332.1:n.4508_4509insACAGG
ENST00000684371.1:n.4541_4542insACAGG
ENST00000684404.1:n.5463_5464insACAGG
ENST00000684442.1:n.4659_4660insACAGG
ENST00000684555.1:c.*2432_*2433insACAGG	ENSP00000507705.1:n.*2432_*2433insACAGG
ENST00000684571.1:c.4061_4062insACAGG	ENSP00000506935.1:p.Asp1355GlnfsTer?
ENST00000684593.1:c.*3925_*3926insACAGG	ENSP00000507005.1:n.*3925_*3926insACAGG
ENST00000684711.1:c.*2616_*2617insACAGG	ENSP00000506841.1:n.*2616_*2617insACAGG
ENST00000302539.9:c.4223_4224insACAGG	ENSP00000303960.4:p.Asp1409GlnfsTer?
ENST00000389817.8:c.4220_4221insACAGG MANE Select	ENSP00000374467.4:p.Asp1408GlnfsTer?
ENST00000642271.1:c.4217_4218insACAGG	ENSP00000493749.1:p.Asp1407GlnfsTer?
ENST00000642579.1:c.2274_2275insACAGG
ENST00000642611.1:n.5438_5439insACAGG
ENST00000642902.1:c.4002_4003insACAGG
ENST00000643260.1:c.4220_4221insACAGG	ENSP00000494450.1:p.Asp1408GlnfsTer?
ENST00000643562.1:c.*2342_*2343insACAGG	ENSP00000496124.1:n.*2342_*2343insACAGG
ENST00000643925.1:c.2860_2861insACAGG
ENST00000644057.1:n.297_298insACAGG
ENST00000644484.1:c.*3606_*3607insACAGG	ENSP00000493558.1:n.*3606_*3607insACAGG
ENST00000644675.1:c.*2392_*2393insACAGG	ENSP00000494567.1:n.*2392_*2393insACAGG
ENST00000644757.1:c.*3202+567_*3202+568insACAGG	ENSP00000495085.1:n.*3202+567_*3202+568insACAGG
ENST00000644772.1:c.4286_4287insACAGG	ENSP00000494321.1:p.Asp1430GlnfsTer?
ENST00000645004.1:n.1913_1914insACAGG
ENST00000645076.1:c.3419_3420insACAGG
ENST00000645417.1:c.1408_1409insACAGG
ENST00000645744.1:c.*3964-59_*3964-58insACAGG	ENSP00000494564.1:n.*3964-59_*3964-58insACAGG
ENST00000645760.1:c.4641_4642insACAGG
ENST00000645884.1:c.*1503_*1504insACAGG	ENSP00000495516.1:n.*1503_*1504insACAGG
ENST00000646003.1:c.*2301-59_*2301-58insACAGG	ENSP00000495259.1:n.*2301-59_*2301-58insACAGG
ENST00000646207.1:c.*3057_*3058insACAGG	ENSP00000495025.1:n.*3057_*3058insACAGG
ENST00000646276.1:c.*3624_*3625insACAGG	ENSP00000496070.1:n.*3624_*3625insACAGG
ENST00000646592.1:c.3526_3527insACAGG
ENST00000646902.1:c.4187_4188insACAGG	ENSP00000494101.1:p.Asp1397GlnfsTer?
ENST00000646993.1:c.*2762_*2763insACAGG	ENSP00000493720.1:n.*2762_*2763insACAGG
ENST00000647013.1:c.4226_4227insACAGG	ENSP00000496741.1:n.4226_4227insACAGG
ENST00000647015.1:c.3971_3972insACAGG	ENSP00000495389.1:p.Asp1325GlnfsTer?
ENST00000647086.1:c.*3806_*3807insACAGG	ENSP00000493677.1:n.*3806_*3807insACAGG
ENST00000647158.1:c.*2507_*2508insACAGG	ENSP00000495744.1:n.*2507_*2508insACAGG
ENST00000302539.8:c.4223_4224insACAGG	ENSP00000303960.4:p.Asp1409GlnfsTer?
ENST00000389817.7:c.4220_4221insACAGG	ENSP00000374467.3:p.Asp1408GlnfsTer?
ENST00000525022.1:n.219_220insACAGG
ENST00000526037.5:n.84_85insACAGG
ENST00000526168.5:c.67-59_67-58insACAGG
ENST00000531642.5:c.56_57insACAGG
NM_000352.4:c.4220_4221insACAGG	NP_000343.2:p.Asp1408GlnfsTer?
NM_001287174.1:c.4223_4224insACAGG	NP_001274103.1:p.Asp1409GlnfsTer?
XM_011520331.1:c.4220_4221insACAGG	XP_011518633.1:p.Asp1408GlnfsTer?
XM_011520332.1:c.4223_4224insACAGG	XP_011518634.1:p.Asp1409GlnfsTer?
XM_011520333.1:c.2720_2721insACAGG	XP_011518635.1:p.Asp908GlnfsTer?
XR_930890.1:n.4286_4287insACAGG
NM_001351295.1:c.4286_4287insACAGG	NP_001338224.1:p.Asp1430GlnfsTer?
NM_001351296.1:c.4220_4221insACAGG	NP_001338225.1:p.Asp1408GlnfsTer?
NM_001351297.1:c.4217_4218insACAGG	NP_001338226.1:p.Asp1407GlnfsTer?
NR_147094.1:n.4515_4516insACAGG
XM_017018197.2:c.4289_4290insACAGG	XP_016873686.1:p.Asp1431GlnfsTer?
XM_017018199.1:c.4286_4287insACAGG	XP_016873688.1:p.Asp1430GlnfsTer?
XM_017018201.2:c.4289_4290insACAGG	XP_016873690.1:p.Asp1431GlnfsTer?
XM_017018202.1:c.2786_2787insACAGG	XP_016873691.1:p.Asp930GlnfsTer?
XM_017018204.1:c.2177_2178insACAGG	XP_016873693.1:p.Asp727GlnfsTer?
XM_024448668.1:c.2588_2589insACAGG	XP_024304436.1:p.Asp864GlnfsTer?
XR_001747945.2:n.4361_4362insACAGG
XR_001747946.2:n.4292_4293insACAGG
XR_002957189.1:n.6075_6076insACAGG
NM_000352.6:c.4220_4221insACAGG MANE Select	NP_000343.2:p.Asp1408GlnfsTer?
NM_001287174.2:c.4223_4224insACAGG	NP_001274103.1:p.Asp1409GlnfsTer?
NM_001351295.2:c.4286_4287insACAGG	NP_001338224.1:p.Asp1430GlnfsTer?
NM_001351296.2:c.4220_4221insACAGG	NP_001338225.1:p.Asp1408GlnfsTer?
NM_001351297.2:c.4217_4218insACAGG	NP_001338226.1:p.Asp1407GlnfsTer?
NR_147094.2:n.4515_4516insACAGG
NM_001287174.3:c.4223_4224insACAGG	NP_001274103.1:p.Asp1409GlnfsTer?