Canonical Allele Identifier: CA2695213289

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394283_17394288dup , CM000673.2:g.17394283_17394288dup	GRCh38
NC_000011.9:g.17415830_17415835dup , CM000673.1:g.17415830_17415835dup	GRCh37
NC_000011.8:g.17372406_17372411dup	NCBI36
NG_008867.1:g.87616_87621dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4125_4130dup
ENST00000526037.6:n.459_464dup
ENST00000528374.2:c.1115_1120dup
ENST00000529967.6:n.2863_2868dup
ENST00000532220.2:n.3757_3762dup
ENST00000642611.2:n.5857_5862dup
ENST00000644057.2:n.1100_1105dup
ENST00000645004.2:n.2023_2028dup
ENST00000682051.1:n.4686_4691dup
ENST00000682110.1:n.4739_4744dup
ENST00000682140.1:c.*310_*315dup	ENSP00000507829.1:n.*310_*315dup
ENST00000682185.1:n.5829_5834dup
ENST00000682204.1:c.*2662_*2667dup	ENSP00000507094.1:n.*2662_*2667dup
ENST00000682215.1:n.5106_5111dup
ENST00000682288.1:c.*2955_*2960dup	ENSP00000507506.1:n.*2955_*2960dup
ENST00000682442.1:n.4959_4964dup
ENST00000682528.1:n.4816_4821dup
ENST00000682673.1:n.4683_4688dup
ENST00000682805.1:n.5144_5149dup
ENST00000682965.1:c.*946_*951dup	ENSP00000508229.1:n.*946_*951dup
ENST00000683093.1:n.5719_5724dup
ENST00000683136.1:c.4407_4412dup	ENSP00000507768.1:p.Ser1471_Ile1472insAlaSer
ENST00000683153.1:n.4781_4786dup
ENST00000683365.1:n.4841_4846dup
ENST00000683377.1:n.4635_4640dup
ENST00000683456.1:c.*1661_*1666dup	ENSP00000508318.1:n.*1661_*1666dup
ENST00000683522.1:n.4821_4826dup
ENST00000683562.1:c.*2589_*2594dup	ENSP00000508265.1:n.*2589_*2594dup
ENST00000683693.1:n.6200_6205dup
ENST00000683725.1:c.4420_4425dup	ENSP00000507496.1:p.Phe1475_His1476insGlyPhe
ENST00000684010.1:n.4734_4739dup
ENST00000684014.1:n.711_716dup
ENST00000684157.1:n.5724_5729dup
ENST00000684253.1:n.4642_4647dup
ENST00000684288.1:c.*2696_*2701dup	ENSP00000507143.1:n.*2696_*2701dup
ENST00000684313.1:n.4171_4176dup
ENST00000684332.1:n.4812_4817dup
ENST00000684371.1:n.4845_4850dup
ENST00000684404.1:n.5767_5772dup
ENST00000684442.1:n.4963_4968dup
ENST00000684555.1:c.*2736_*2741dup	ENSP00000507705.1:n.*2736_*2741dup
ENST00000684571.1:c.4365_4370dup	ENSP00000506935.1:p.Ser1457_Ile1458insAlaSer
ENST00000684593.1:c.*4229_*4234dup	ENSP00000507005.1:n.*4229_*4234dup
ENST00000684711.1:c.*2920_*2925dup	ENSP00000506841.1:n.*2920_*2925dup
ENST00000302539.9:c.4527_4532dup	ENSP00000303960.4:p.Ser1511_Ile1512insAlaSer
ENST00000389817.8:c.4524_4529dup MANE Select	ENSP00000374467.4:p.Ser1510_Ile1511insAlaSer
ENST00000642271.1:c.4521_4526dup	ENSP00000493749.1:p.Ser1509_Ile1510insAlaSer
ENST00000642579.1:c.2578_2583dup
ENST00000642611.1:n.5742_5747dup
ENST00000642902.1:c.4306_4311dup
ENST00000643260.1:c.4524_4529dup	ENSP00000494450.1:p.Ser1510_Ile1511insAlaSer
ENST00000643562.1:c.*2646_*2651dup	ENSP00000496124.1:n.*2646_*2651dup
ENST00000643925.1:c.3164_3169dup
ENST00000644057.1:n.683_688dup
ENST00000644484.1:c.*3910_*3915dup	ENSP00000493558.1:n.*3910_*3915dup
ENST00000644675.1:c.*2696_*2701dup	ENSP00000494567.1:n.*2696_*2701dup
ENST00000644757.1:c.*3203-1307_*3203-1302dup	ENSP00000495085.1:n.*3203-1307_*3203-1302dup
ENST00000644772.1:c.4590_4595dup	ENSP00000494321.1:p.Ser1532_Ile1533insAlaSer
ENST00000645004.1:n.2217_2222dup
ENST00000645076.1:c.3619_3624dup
ENST00000645417.1:c.1712_1717dup
ENST00000645744.1:c.*4209_*4214dup	ENSP00000494564.1:n.*4209_*4214dup
ENST00000645760.1:c.4945_4950dup
ENST00000645884.1:c.*1807_*1812dup	ENSP00000495516.1:n.*1807_*1812dup
ENST00000646003.1:c.*2546_*2551dup	ENSP00000495259.1:n.*2546_*2551dup
ENST00000646207.1:c.*3361_*3366dup	ENSP00000495025.1:n.*3361_*3366dup
ENST00000646276.1:c.*3928_*3933dup	ENSP00000496070.1:n.*3928_*3933dup
ENST00000646592.1:c.3830_3835dup
ENST00000646902.1:c.4491_4496dup	ENSP00000494101.1:p.Ser1499_Ile1500insAlaSer
ENST00000646993.1:c.*2962_*2967dup	ENSP00000493720.1:n.*2962_*2967dup
ENST00000647015.1:c.4275_4280dup	ENSP00000495389.1:p.Ser1427_Ile1428insAlaSer
ENST00000647086.1:c.*4110_*4115dup	ENSP00000493677.1:n.*4110_*4115dup
ENST00000647158.1:c.*2811_*2816dup	ENSP00000495744.1:n.*2811_*2816dup
ENST00000302539.8:c.4527_4532dup	ENSP00000303960.4:p.Ser1511_Ile1512insAlaSer
ENST00000389817.7:c.4524_4529dup	ENSP00000374467.3:p.Ser1510_Ile1511insAlaSer
ENST00000525022.1:n.419_424dup
ENST00000526037.5:n.284_289dup
ENST00000526168.5:c.312_317dup
ENST00000531642.5:c.555_560dup
NM_000352.4:c.4524_4529dup	NP_000343.2:p.Ser1510_Ile1511insAlaSer
NM_001287174.1:c.4527_4532dup	NP_001274103.1:p.Ser1511_Ile1512insAlaSer
XM_011520331.1:c.4524_4529dup	XP_011518633.1:p.Ser1510_Ile1511insAlaSer
XM_011520332.1:c.4423_4428dup	XP_011518634.1:p.Phe1476_His1477insGlyPhe
XM_011520333.1:c.3024_3029dup	XP_011518635.1:p.Ser1010_Ile1011insAlaSer
XR_930890.1:n.4486_4491dup
NM_001351295.1:c.4590_4595dup	NP_001338224.1:p.Ser1532_Ile1533insAlaSer
NM_001351296.1:c.4524_4529dup	NP_001338225.1:p.Ser1510_Ile1511insAlaSer
NM_001351297.1:c.4521_4526dup	NP_001338226.1:p.Ser1509_Ile1510insAlaSer
NR_147094.1:n.4819_4824dup
XM_017018197.2:c.4593_4598dup	XP_016873686.1:p.Ser1533_Ile1534insAlaSer
XM_017018199.1:c.4590_4595dup	XP_016873688.1:p.Ser1532_Ile1533insAlaSer
XM_017018201.2:c.4489_4494dup	XP_016873690.1:p.Phe1498_His1499insGlyPhe
XM_017018202.1:c.3090_3095dup	XP_016873691.1:p.Ser1032_Ile1033insAlaSer
XM_017018204.1:c.2481_2486dup	XP_016873693.1:p.Ser829_Ile830insAlaSer
XM_024448668.1:c.2892_2897dup	XP_024304436.1:p.Ser966_Ile967insAlaSer
XR_001747945.2:n.4561_4566dup
XR_001747946.2:n.4492_4497dup
XR_002957189.1:n.6275_6280dup
NM_000352.6:c.4524_4529dup MANE Select	NP_000343.2:p.Ser1510_Ile1511insAlaSer
NM_001287174.2:c.4527_4532dup	NP_001274103.1:p.Ser1511_Ile1512insAlaSer
NM_001351295.2:c.4590_4595dup	NP_001338224.1:p.Ser1532_Ile1533insAlaSer
NM_001351296.2:c.4524_4529dup	NP_001338225.1:p.Ser1510_Ile1511insAlaSer
NM_001351297.2:c.4521_4526dup	NP_001338226.1:p.Ser1509_Ile1510insAlaSer
NR_147094.2:n.4819_4824dup
NM_001287174.3:c.4527_4532dup	NP_001274103.1:p.Ser1511_Ile1512insAlaSer