Canonical Allele Identifier: CA674175591

Gene: ABCC8

Linked Data

• dbSNP Id: rs1257736544
• MyVariant Identifiers: chr11:g.17417216_17417217insGT (hg19) ; chr11:g.17395669_17395670insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395673_17395674dup , CM000673.2:g.17395673_17395674dup	GRCh38
NC_000011.9:g.17417220_17417221dup , CM000673.1:g.17417220_17417221dup	GRCh37
NC_000011.8:g.17373796_17373797dup	NCBI36
NG_008867.1:g.86232_86233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3847_3848dup
ENST00000528374.2:c.837_838dup
ENST00000529967.6:n.2585_2586dup
ENST00000532220.2:n.3479_3480dup
ENST00000642611.2:n.5579_5580dup
ENST00000644057.2:n.822_823dup
ENST00000645004.2:n.1745_1746dup
ENST00000682051.1:n.4408_4409dup
ENST00000682110.1:n.4461_4462dup
ENST00000682140.1:c.*32_*33dup	ENSP00000507829.1:n.*32_*33dup
ENST00000682185.1:n.5551_5552dup
ENST00000682204.1:c.*2384_*2385dup	ENSP00000507094.1:n.*2384_*2385dup
ENST00000682215.1:n.4828_4829dup
ENST00000682288.1:c.*2677_*2678dup	ENSP00000507506.1:n.*2677_*2678dup
ENST00000682442.1:n.4681_4682dup
ENST00000682528.1:n.4538_4539dup
ENST00000682673.1:n.4405_4406dup
ENST00000682805.1:n.4866_4867dup
ENST00000682965.1:c.*668_*669dup	ENSP00000508229.1:n.*668_*669dup
ENST00000683093.1:n.5545_5546dup
ENST00000683136.1:c.4129_4130dup	ENSP00000507768.1:p.Leu1378ProfsTer?
ENST00000683153.1:n.4503_4504dup
ENST00000683365.1:n.4563_4564dup
ENST00000683377.1:n.4461_4462dup
ENST00000683456.1:c.*1383_*1384dup	ENSP00000508318.1:n.*1383_*1384dup
ENST00000683522.1:n.4461_4462dup
ENST00000683562.1:c.*2415_*2416dup	ENSP00000508265.1:n.*2415_*2416dup
ENST00000683693.1:n.6026_6027dup
ENST00000683725.1:c.4246_4247dup	ENSP00000507496.1:p.Leu1417ProfsTer?
ENST00000684010.1:n.4456_4457dup
ENST00000684157.1:n.5446_5447dup
ENST00000684253.1:n.4364_4365dup
ENST00000684288.1:c.*2418_*2419dup	ENSP00000507143.1:n.*2418_*2419dup
ENST00000684313.1:n.3893_3894dup
ENST00000684332.1:n.4534_4535dup
ENST00000684371.1:n.4567_4568dup
ENST00000684404.1:n.5489_5490dup
ENST00000684442.1:n.4685_4686dup
ENST00000684555.1:c.*2458_*2459dup	ENSP00000507705.1:n.*2458_*2459dup
ENST00000684571.1:c.4087_4088dup	ENSP00000506935.1:p.Leu1364ProfsTer?
ENST00000684593.1:c.*3951_*3952dup	ENSP00000507005.1:n.*3951_*3952dup
ENST00000684711.1:c.*2642_*2643dup	ENSP00000506841.1:n.*2642_*2643dup
ENST00000302539.9:c.4249_4250dup	ENSP00000303960.4:p.Leu1418ProfsTer?
ENST00000389817.8:c.4246_4247dup MANE Select	ENSP00000374467.4:p.Leu1417ProfsTer?
ENST00000642271.1:c.4243_4244dup	ENSP00000493749.1:p.Leu1416ProfsTer?
ENST00000642579.1:c.2300_2301dup
ENST00000642611.1:n.5464_5465dup
ENST00000642902.1:c.4028_4029dup
ENST00000643260.1:c.4246_4247dup	ENSP00000494450.1:p.Leu1417ProfsTer?
ENST00000643562.1:c.*2368_*2369dup	ENSP00000496124.1:n.*2368_*2369dup
ENST00000643925.1:c.2886_2887dup
ENST00000644057.1:n.323_324dup
ENST00000644484.1:c.*3632_*3633dup	ENSP00000493558.1:n.*3632_*3633dup
ENST00000644675.1:c.*2418_*2419dup	ENSP00000494567.1:n.*2418_*2419dup
ENST00000644757.1:c.*3202+593_*3202+594dup	ENSP00000495085.1:n.*3202+593_*3202+594dup
ENST00000644772.1:c.4312_4313dup	ENSP00000494321.1:p.Leu1439ProfsTer?
ENST00000645004.1:n.1939_1940dup
ENST00000645076.1:c.3445_3446dup
ENST00000645417.1:c.1434_1435dup
ENST00000645744.1:c.*3964-33_*3964-32dup	ENSP00000494564.1:n.*3964-33_*3964-32dup
ENST00000645760.1:c.4667_4668dup
ENST00000645884.1:c.*1529_*1530dup	ENSP00000495516.1:n.*1529_*1530dup
ENST00000646003.1:c.*2301-33_*2301-32dup	ENSP00000495259.1:n.*2301-33_*2301-32dup
ENST00000646207.1:c.*3083_*3084dup	ENSP00000495025.1:n.*3083_*3084dup
ENST00000646276.1:c.*3650_*3651dup	ENSP00000496070.1:n.*3650_*3651dup
ENST00000646592.1:c.3552_3553dup
ENST00000646902.1:c.4213_4214dup	ENSP00000494101.1:p.Leu1406ProfsTer?
ENST00000646993.1:c.*2788_*2789dup	ENSP00000493720.1:n.*2788_*2789dup
ENST00000647013.1:c.4252_4253dup	ENSP00000496741.1:n.4252_4253dup
ENST00000647015.1:c.3997_3998dup	ENSP00000495389.1:p.Leu1334ProfsTer?
ENST00000647086.1:c.*3832_*3833dup	ENSP00000493677.1:n.*3832_*3833dup
ENST00000647158.1:c.*2533_*2534dup	ENSP00000495744.1:n.*2533_*2534dup
ENST00000302539.8:c.4249_4250dup	ENSP00000303960.4:p.Leu1418ProfsTer?
ENST00000389817.7:c.4246_4247dup	ENSP00000374467.3:p.Leu1417ProfsTer?
ENST00000525022.1:n.245_246dup
ENST00000526037.5:n.110_111dup
ENST00000526168.5:c.67-33_67-32dup
ENST00000531642.5:c.82_83dup
NM_000352.4:c.4246_4247dup	NP_000343.2:p.Leu1417ProfsTer?
NM_001287174.1:c.4249_4250dup	NP_001274103.1:p.Leu1418ProfsTer?
XM_011520331.1:c.4246_4247dup	XP_011518633.1:p.Leu1417ProfsTer?
XM_011520332.1:c.4249_4250dup	XP_011518634.1:p.Leu1418ProfsTer?
XM_011520333.1:c.2746_2747dup	XP_011518635.1:p.Leu917ProfsTer?
XR_930890.1:n.4312_4313dup
NM_001351295.1:c.4312_4313dup	NP_001338224.1:p.Leu1439ProfsTer?
NM_001351296.1:c.4246_4247dup	NP_001338225.1:p.Leu1417ProfsTer?
NM_001351297.1:c.4243_4244dup	NP_001338226.1:p.Leu1416ProfsTer?
NR_147094.1:n.4541_4542dup
XM_017018197.2:c.4315_4316dup	XP_016873686.1:p.Leu1440ProfsTer?
XM_017018199.1:c.4312_4313dup	XP_016873688.1:p.Leu1439ProfsTer?
XM_017018201.2:c.4315_4316dup	XP_016873690.1:p.Leu1440ProfsTer?
XM_017018202.1:c.2812_2813dup	XP_016873691.1:p.Leu939ProfsTer?
XM_017018204.1:c.2203_2204dup	XP_016873693.1:p.Leu736ProfsTer?
XM_024448668.1:c.2614_2615dup	XP_024304436.1:p.Leu873ProfsTer?
XR_001747945.2:n.4387_4388dup
XR_001747946.2:n.4318_4319dup
XR_002957189.1:n.6101_6102dup
NM_000352.6:c.4246_4247dup MANE Select	NP_000343.2:p.Leu1417ProfsTer?
NM_001287174.2:c.4249_4250dup	NP_001274103.1:p.Leu1418ProfsTer?
NM_001351295.2:c.4312_4313dup	NP_001338224.1:p.Leu1439ProfsTer?
NM_001351296.2:c.4246_4247dup	NP_001338225.1:p.Leu1417ProfsTer?
NM_001351297.2:c.4243_4244dup	NP_001338226.1:p.Leu1416ProfsTer?
NR_147094.2:n.4541_4542dup
NM_001287174.3:c.4249_4250dup	NP_001274103.1:p.Leu1418ProfsTer?