Canonical Allele Identifier: CA2695213312

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395239_17395241dup , CM000673.2:g.17395239_17395241dup	GRCh38
NC_000011.9:g.17416786_17416788dup , CM000673.1:g.17416786_17416788dup	GRCh37
NC_000011.8:g.17373362_17373364dup	NCBI36
NG_008867.1:g.86663_86665dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3944_3946dup
ENST00000526037.6:n.278_280dup
ENST00000528374.2:c.934_936dup
ENST00000529967.6:n.2682_2684dup
ENST00000532220.2:n.3576_3578dup
ENST00000642611.2:n.5676_5678dup
ENST00000644057.2:n.919_921dup
ENST00000645004.2:n.1842_1844dup
ENST00000682051.1:n.4505_4507dup
ENST00000682110.1:n.4558_4560dup
ENST00000682140.1:c.*129_*131dup	ENSP00000507829.1:n.*129_*131dup
ENST00000682185.1:n.5648_5650dup
ENST00000682204.1:c.*2481_*2483dup	ENSP00000507094.1:n.*2481_*2483dup
ENST00000682215.1:n.4925_4927dup
ENST00000682288.1:c.*2774_*2776dup	ENSP00000507506.1:n.*2774_*2776dup
ENST00000682442.1:n.4778_4780dup
ENST00000682528.1:n.4635_4637dup
ENST00000682673.1:n.4502_4504dup
ENST00000682805.1:n.4963_4965dup
ENST00000682965.1:c.*765_*767dup	ENSP00000508229.1:n.*765_*767dup
ENST00000683093.1:n.5606+370_5606+372dup
ENST00000683136.1:c.4226_4228dup	ENSP00000507768.1:p.Ser1409_Thr1410insSer
ENST00000683153.1:n.4600_4602dup
ENST00000683365.1:n.4660_4662dup
ENST00000683377.1:n.4522+370_4522+372dup
ENST00000683456.1:c.*1480_*1482dup	ENSP00000508318.1:n.*1480_*1482dup
ENST00000683522.1:n.4558_4560dup
ENST00000683562.1:c.*2476+370_*2476+372dup	ENSP00000508265.1:n.*2476+370_*2476+372dup
ENST00000683693.1:n.6087+370_6087+372dup
ENST00000683725.1:c.4307+370_4307+372dup	ENSP00000507496.1:n.4307+370_4307+372dup
ENST00000684010.1:n.4553_4555dup
ENST00000684157.1:n.5543_5545dup
ENST00000684253.1:n.4461_4463dup
ENST00000684288.1:c.*2515_*2517dup	ENSP00000507143.1:n.*2515_*2517dup
ENST00000684313.1:n.3990_3992dup
ENST00000684332.1:n.4631_4633dup
ENST00000684371.1:n.4664_4666dup
ENST00000684404.1:n.5586_5588dup
ENST00000684442.1:n.4782_4784dup
ENST00000684555.1:c.*2555_*2557dup	ENSP00000507705.1:n.*2555_*2557dup
ENST00000684571.1:c.4184_4186dup	ENSP00000506935.1:p.Ser1395_Thr1396insSer
ENST00000684593.1:c.*4048_*4050dup	ENSP00000507005.1:n.*4048_*4050dup
ENST00000684711.1:c.*2739_*2741dup	ENSP00000506841.1:n.*2739_*2741dup
ENST00000302539.9:c.4346_4348dup	ENSP00000303960.4:p.Ser1449_Thr1450insSer
ENST00000389817.8:c.4343_4345dup MANE Select	ENSP00000374467.4:p.Ser1448_Thr1449insSer
ENST00000642271.1:c.4340_4342dup	ENSP00000493749.1:p.Ser1447_Thr1448insSer
ENST00000642579.1:c.2397_2399dup
ENST00000642611.1:n.5561_5563dup
ENST00000642902.1:c.4125_4127dup
ENST00000643260.1:c.4343_4345dup	ENSP00000494450.1:p.Ser1448_Thr1449insSer
ENST00000643562.1:c.*2465_*2467dup	ENSP00000496124.1:n.*2465_*2467dup
ENST00000643925.1:c.2983_2985dup
ENST00000644057.1:n.420_422dup
ENST00000644484.1:c.*3729_*3731dup	ENSP00000493558.1:n.*3729_*3731dup
ENST00000644675.1:c.*2515_*2517dup	ENSP00000494567.1:n.*2515_*2517dup
ENST00000644757.1:c.*3202+1024_*3202+1026dup	ENSP00000495085.1:n.*3202+1024_*3202+1026dup
ENST00000644772.1:c.4409_4411dup	ENSP00000494321.1:p.Ser1470_Thr1471insSer
ENST00000645004.1:n.2036_2038dup
ENST00000645076.1:c.3506+370_3506+372dup
ENST00000645417.1:c.1531_1533dup
ENST00000645744.1:c.*4028_*4030dup	ENSP00000494564.1:n.*4028_*4030dup
ENST00000645760.1:c.4764_4766dup
ENST00000645884.1:c.*1626_*1628dup	ENSP00000495516.1:n.*1626_*1628dup
ENST00000646003.1:c.*2365_*2367dup	ENSP00000495259.1:n.*2365_*2367dup
ENST00000646207.1:c.*3180_*3182dup	ENSP00000495025.1:n.*3180_*3182dup
ENST00000646276.1:c.*3747_*3749dup	ENSP00000496070.1:n.*3747_*3749dup
ENST00000646592.1:c.3649_3651dup
ENST00000646902.1:c.4310_4312dup	ENSP00000494101.1:p.Ser1437_Thr1438insSer
ENST00000646993.1:c.*2849+370_*2849+372dup	ENSP00000493720.1:n.*2849+370_*2849+372dup
ENST00000647013.1:c.4349_4351dup	ENSP00000496741.1:n.4349_4351dup
ENST00000647015.1:c.4094_4096dup	ENSP00000495389.1:p.Ser1365_Thr1366insSer
ENST00000647086.1:c.*3929_*3931dup	ENSP00000493677.1:n.*3929_*3931dup
ENST00000647158.1:c.*2630_*2632dup	ENSP00000495744.1:n.*2630_*2632dup
ENST00000302539.8:c.4346_4348dup	ENSP00000303960.4:p.Ser1449_Thr1450insSer
ENST00000389817.7:c.4343_4345dup	ENSP00000374467.3:p.Ser1448_Thr1449insSer
ENST00000525022.1:n.306+370_306+372dup
ENST00000526037.5:n.171+370_171+372dup
ENST00000526168.5:c.131_133dup
ENST00000531642.5:c.374_376dup
NM_000352.4:c.4343_4345dup	NP_000343.2:p.Ser1448_Thr1449insSer
NM_001287174.1:c.4346_4348dup	NP_001274103.1:p.Ser1449_Thr1450insSer
XM_011520331.1:c.4343_4345dup	XP_011518633.1:p.Ser1448_Thr1449insSer
XM_011520332.1:c.4310+370_4310+372dup	XP_011518634.1:n.4310+370_4310+372dup
XM_011520333.1:c.2843_2845dup	XP_011518635.1:p.Ser948_Thr949insSer
XR_930890.1:n.4373+370_4373+372dup
NM_001351295.1:c.4409_4411dup	NP_001338224.1:p.Ser1470_Thr1471insSer
NM_001351296.1:c.4343_4345dup	NP_001338225.1:p.Ser1448_Thr1449insSer
NM_001351297.1:c.4340_4342dup	NP_001338226.1:p.Ser1447_Thr1448insSer
NR_147094.1:n.4638_4640dup
XM_017018197.2:c.4412_4414dup	XP_016873686.1:p.Ser1471_Thr1472insSer
XM_017018199.1:c.4409_4411dup	XP_016873688.1:p.Ser1470_Thr1471insSer
XM_017018201.2:c.4376+370_4376+372dup	XP_016873690.1:n.4376+370_4376+372dup
XM_017018202.1:c.2909_2911dup	XP_016873691.1:p.Ser970_Thr971insSer
XM_017018204.1:c.2300_2302dup	XP_016873693.1:p.Ser767_Thr768insSer
XM_024448668.1:c.2711_2713dup	XP_024304436.1:p.Ser904_Thr905insSer
XR_001747945.2:n.4448+370_4448+372dup
XR_001747946.2:n.4379+370_4379+372dup
XR_002957189.1:n.6162+370_6162+372dup
NM_000352.6:c.4343_4345dup MANE Select	NP_000343.2:p.Ser1448_Thr1449insSer
NM_001287174.2:c.4346_4348dup	NP_001274103.1:p.Ser1449_Thr1450insSer
NM_001351295.2:c.4409_4411dup	NP_001338224.1:p.Ser1470_Thr1471insSer
NM_001351296.2:c.4343_4345dup	NP_001338225.1:p.Ser1448_Thr1449insSer
NM_001351297.2:c.4340_4342dup	NP_001338226.1:p.Ser1447_Thr1448insSer
NR_147094.2:n.4638_4640dup
NM_001287174.3:c.4346_4348dup	NP_001274103.1:p.Ser1449_Thr1450insSer