Canonical Allele Identifier: CA658658031

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 446773
• ClinVar RCV Id: RCV000518119 ; RCV002244987 ; RCV002244988
• dbSNP Id: rs1554905145
• MyVariant Identifiers: chr11:g.17417445_17417446del (hg19) ; chr11:g.17395898_17395899del (hg38)
• PubMed: PMID:20685672

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395898_17395899del , CM000673.2:g.17395898_17395899del	GRCh38
NC_000011.9:g.17417445_17417446del , CM000673.1:g.17417445_17417446del	GRCh37
NC_000011.8:g.17374021_17374022del	NCBI36
NG_008867.1:g.86004_86005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3752_3753del
ENST00000528374.2:c.742_743del
ENST00000529967.6:n.2490_2491del
ENST00000532220.2:n.3384_3385del
ENST00000642611.2:n.5351_5352del
ENST00000644057.2:n.594_595del
ENST00000645004.2:n.1650_1651del
ENST00000682051.1:n.4313_4314del
ENST00000682110.1:n.4366_4367del
ENST00000682140.1:c.4017_4018del	ENSP00000507829.1:p.Glu1339AspfsTer?
ENST00000682185.1:n.5456_5457del
ENST00000682204.1:c.*2289_*2290del	ENSP00000507094.1:n.*2289_*2290del
ENST00000682215.1:n.4733_4734del
ENST00000682288.1:c.*2582_*2583del	ENSP00000507506.1:n.*2582_*2583del
ENST00000682442.1:n.4586_4587del
ENST00000682528.1:n.4443_4444del
ENST00000682673.1:n.4310_4311del
ENST00000682805.1:n.4771_4772del
ENST00000682965.1:c.*573_*574del	ENSP00000508229.1:n.*573_*574del
ENST00000683093.1:n.5450_5451del
ENST00000683136.1:c.4034_4035del	ENSP00000507768.1:p.Lys1345IlefsTer21
ENST00000683153.1:n.4408_4409del
ENST00000683365.1:n.4468_4469del
ENST00000683377.1:n.4366_4367del
ENST00000683456.1:c.*1288_*1289del	ENSP00000508318.1:n.*1288_*1289del
ENST00000683522.1:n.4366_4367del
ENST00000683562.1:c.*2320_*2321del	ENSP00000508265.1:n.*2320_*2321del
ENST00000683693.1:n.5798_5799del
ENST00000683725.1:c.4151_4152del	ENSP00000507496.1:p.Lys1384IlefsTer21
ENST00000684010.1:n.4361_4362del
ENST00000684157.1:n.5351_5352del
ENST00000684253.1:n.4269_4270del
ENST00000684288.1:c.*2323_*2324del	ENSP00000507143.1:n.*2323_*2324del
ENST00000684313.1:n.3798_3799del
ENST00000684332.1:n.4439_4440del
ENST00000684371.1:n.4472_4473del
ENST00000684404.1:n.5394_5395del
ENST00000684442.1:n.4590_4591del
ENST00000684555.1:c.*2363_*2364del	ENSP00000507705.1:n.*2363_*2364del
ENST00000684571.1:c.3992_3993del	ENSP00000506935.1:p.Lys1331IlefsTer21
ENST00000684593.1:c.*3856_*3857del	ENSP00000507005.1:n.*3856_*3857del
ENST00000684711.1:c.*2547_*2548del	ENSP00000506841.1:n.*2547_*2548del
ENST00000302539.9:c.4154_4155del	ENSP00000303960.4:p.Lys1385IlefsTer21
ENST00000389817.8:c.4151_4152del MANE Select	ENSP00000374467.4:p.Lys1384IlefsTer21
ENST00000642271.1:c.4148_4149del	ENSP00000493749.1:p.Lys1383IlefsTer21
ENST00000642579.1:c.2205_2206del
ENST00000642611.1:n.5236_5237del
ENST00000642902.1:c.3933_3934del
ENST00000643260.1:c.4151_4152del	ENSP00000494450.1:p.Lys1384IlefsTer21
ENST00000643562.1:c.*2273_*2274del	ENSP00000496124.1:n.*2273_*2274del
ENST00000643925.1:c.2791_2792del
ENST00000644057.1:n.228_229del
ENST00000644484.1:c.*3537_*3538del	ENSP00000493558.1:n.*3537_*3538del
ENST00000644675.1:c.*2323_*2324del	ENSP00000494567.1:n.*2323_*2324del
ENST00000644757.1:c.*3202+365_*3202+366del	ENSP00000495085.1:n.*3202+365_*3202+366del
ENST00000644772.1:c.4217_4218del	ENSP00000494321.1:p.Lys1406IlefsTer21
ENST00000645004.1:n.1844_1845del
ENST00000645076.1:c.3350_3351del
ENST00000645417.1:c.1339_1340del
ENST00000645744.1:c.*3916_*3917del	ENSP00000494564.1:n.*3916_*3917del
ENST00000645760.1:c.4572_4573del
ENST00000645884.1:c.*1434_*1435del	ENSP00000495516.1:n.*1434_*1435del
ENST00000646003.1:c.*2253_*2254del	ENSP00000495259.1:n.*2253_*2254del
ENST00000646207.1:c.*2988_*2989del	ENSP00000495025.1:n.*2988_*2989del
ENST00000646276.1:c.*3555_*3556del	ENSP00000496070.1:n.*3555_*3556del
ENST00000646592.1:c.3457_3458del
ENST00000646902.1:c.4118_4119del	ENSP00000494101.1:p.Lys1373IlefsTer21
ENST00000646993.1:c.*2693_*2694del	ENSP00000493720.1:n.*2693_*2694del
ENST00000647013.1:c.4157_4158del	ENSP00000496741.1:n.4157_4158del
ENST00000647015.1:c.3902_3903del	ENSP00000495389.1:p.Lys1301IlefsTer21
ENST00000647086.1:c.*3737_*3738del	ENSP00000493677.1:n.*3737_*3738del
ENST00000647158.1:c.*2438_*2439del	ENSP00000495744.1:n.*2438_*2439del
ENST00000302539.8:c.4154_4155del	ENSP00000303960.4:p.Lys1385IlefsTer21
ENST00000389817.7:c.4151_4152del	ENSP00000374467.3:p.Lys1384IlefsTer21
ENST00000525022.1:n.17_18del
ENST00000526168.5:c.19_20del
NM_000352.4:c.4151_4152del	NP_000343.2:p.Lys1384IlefsTer21
NM_001287174.1:c.4154_4155del	NP_001274103.1:p.Lys1385IlefsTer21
XM_011520331.1:c.4151_4152del	XP_011518633.1:p.Lys1384IlefsTer21
XM_011520332.1:c.4154_4155del	XP_011518634.1:p.Lys1385IlefsTer21
XM_011520333.1:c.2651_2652del	XP_011518635.1:p.Lys884IlefsTer21
XR_930890.1:n.4217_4218del
NM_001351295.1:c.4217_4218del	NP_001338224.1:p.Lys1406IlefsTer21
NM_001351296.1:c.4151_4152del	NP_001338225.1:p.Lys1384IlefsTer21
NM_001351297.1:c.4148_4149del	NP_001338226.1:p.Lys1383IlefsTer21
NR_147094.1:n.4446_4447del
XM_017018197.2:c.4220_4221del	XP_016873686.1:p.Lys1407IlefsTer21
XM_017018199.1:c.4217_4218del	XP_016873688.1:p.Lys1406IlefsTer21
XM_017018201.2:c.4220_4221del	XP_016873690.1:p.Lys1407IlefsTer21
XM_017018202.1:c.2717_2718del	XP_016873691.1:p.Lys906IlefsTer21
XM_017018204.1:c.2108_2109del	XP_016873693.1:p.Lys703IlefsTer21
XM_024448668.1:c.2519_2520del	XP_024304436.1:p.Lys840IlefsTer21
XR_001747945.2:n.4292_4293del
XR_001747946.2:n.4223_4224del
XR_002957189.1:n.5873_5874del
NM_000352.6:c.4151_4152del MANE Select	NP_000343.2:p.Lys1384IlefsTer21
NM_001287174.2:c.4154_4155del	NP_001274103.1:p.Lys1385IlefsTer21
NM_001351295.2:c.4217_4218del	NP_001338224.1:p.Lys1406IlefsTer21
NM_001351296.2:c.4151_4152del	NP_001338225.1:p.Lys1384IlefsTer21
NM_001351297.2:c.4148_4149del	NP_001338226.1:p.Lys1383IlefsTer21
NR_147094.2:n.4446_4447del
NM_001287174.3:c.4154_4155del	NP_001274103.1:p.Lys1385IlefsTer21