Canonical Allele Identifier: CA254637
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 9100
ClinVar RCV Id: RCV000009668 RCV000516204 RCV002243633 RCV002243632
dbSNP Id: rs387906408
MyVariant Identifiers: chr11:g.17417439_17417441del (hg19) chr11:g.17417438_17417440del (hg19) chr11:g.17395892_17395894del (hg38) chr11:g.17395891_17395893del (hg38)
PubMed: PMID:9469993 PMID:12941782
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395895_17395897del , CM000673.2:g.17395895_17395897del GRCh38
NC_000011.9:g.17417442_17417444del , CM000673.1:g.17417442_17417444del GRCh37
NC_000011.8:g.17374018_17374020del NCBI36
NG_008867.1:g.86010_86012del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3758_3760del
ENST00000528374.2:c.748_750del
ENST00000529967.6:n.2496_2498del
ENST00000532220.2:n.3390_3392del
ENST00000642611.2:n.5357_5359del
ENST00000644057.2:n.600_602del
ENST00000645004.2:n.1656_1658del
ENST00000682051.1:n.4319_4321del
ENST00000682110.1:n.4372_4374del
ENST00000682140.1:c.4023_4025del ENSP00000507829.1:p.Leu1342del
ENST00000682185.1:n.5462_5464del
ENST00000682204.1:c.*2295_*2297del ENSP00000507094.1:n.*2295_*2297del
ENST00000682215.1:n.4739_4741del
ENST00000682288.1:c.*2588_*2590del ENSP00000507506.1:n.*2588_*2590del
ENST00000682442.1:n.4592_4594del
ENST00000682528.1:n.4449_4451del
ENST00000682673.1:n.4316_4318del
ENST00000682805.1:n.4777_4779del
ENST00000682965.1:c.*579_*581del ENSP00000508229.1:n.*579_*581del
ENST00000683093.1:n.5456_5458del
ENST00000683136.1:c.4040_4042del ENSP00000507768.1:p.Ser1347del
ENST00000683153.1:n.4414_4416del
ENST00000683365.1:n.4474_4476del
ENST00000683377.1:n.4372_4374del
ENST00000683456.1:c.*1294_*1296del ENSP00000508318.1:n.*1294_*1296del
ENST00000683522.1:n.4372_4374del
ENST00000683562.1:c.*2326_*2328del ENSP00000508265.1:n.*2326_*2328del
ENST00000683693.1:n.5804_5806del
ENST00000683725.1:c.4157_4159del ENSP00000507496.1:p.Ser1386del
ENST00000684010.1:n.4367_4369del
ENST00000684157.1:n.5357_5359del
ENST00000684253.1:n.4275_4277del
ENST00000684288.1:c.*2329_*2331del ENSP00000507143.1:n.*2329_*2331del
ENST00000684313.1:n.3804_3806del
ENST00000684332.1:n.4445_4447del
ENST00000684371.1:n.4478_4480del
ENST00000684404.1:n.5400_5402del
ENST00000684442.1:n.4596_4598del
ENST00000684555.1:c.*2369_*2371del ENSP00000507705.1:n.*2369_*2371del
ENST00000684571.1:c.3998_4000del ENSP00000506935.1:p.Ser1333del
ENST00000684593.1:c.*3862_*3864del ENSP00000507005.1:n.*3862_*3864del
ENST00000684711.1:c.*2553_*2555del ENSP00000506841.1:n.*2553_*2555del
ENST00000302539.9:c.4160_4162del ENSP00000303960.4:p.Ser1387del
ENST00000389817.8:c.4157_4159del MANE Select ENSP00000374467.4:p.Ser1386del
ENST00000642271.1:c.4154_4156del ENSP00000493749.1:p.Ser1385del
ENST00000642579.1:c.2211_2213del
ENST00000642611.1:n.5242_5244del
ENST00000642902.1:c.3939_3941del
ENST00000643260.1:c.4157_4159del ENSP00000494450.1:p.Ser1386del
ENST00000643562.1:c.*2279_*2281del ENSP00000496124.1:n.*2279_*2281del
ENST00000643925.1:c.2797_2799del
ENST00000644057.1:n.234_236del
ENST00000644484.1:c.*3543_*3545del ENSP00000493558.1:n.*3543_*3545del
ENST00000644675.1:c.*2329_*2331del ENSP00000494567.1:n.*2329_*2331del
ENST00000644757.1:c.*3202+371_*3202+373del ENSP00000495085.1:n.*3202+371_*3202+373del
ENST00000644772.1:c.4223_4225del ENSP00000494321.1:p.Ser1408del
ENST00000645004.1:n.1850_1852del
ENST00000645076.1:c.3356_3358del
ENST00000645417.1:c.1345_1347del
ENST00000645744.1:c.*3922_*3924del ENSP00000494564.1:n.*3922_*3924del
ENST00000645760.1:c.4578_4580del
ENST00000645884.1:c.*1440_*1442del ENSP00000495516.1:n.*1440_*1442del
ENST00000646003.1:c.*2259_*2261del ENSP00000495259.1:n.*2259_*2261del
ENST00000646207.1:c.*2994_*2996del ENSP00000495025.1:n.*2994_*2996del
ENST00000646276.1:c.*3561_*3563del ENSP00000496070.1:n.*3561_*3563del
ENST00000646592.1:c.3463_3465del
ENST00000646902.1:c.4124_4126del ENSP00000494101.1:p.Ser1375del
ENST00000646993.1:c.*2699_*2701del ENSP00000493720.1:n.*2699_*2701del
ENST00000647013.1:c.4163_4165del ENSP00000496741.1:n.4163_4165del
ENST00000647015.1:c.3908_3910del ENSP00000495389.1:p.Ser1303del
ENST00000647086.1:c.*3743_*3745del ENSP00000493677.1:n.*3743_*3745del
ENST00000647158.1:c.*2444_*2446del ENSP00000495744.1:n.*2444_*2446del
ENST00000302539.8:c.4160_4162del ENSP00000303960.4:p.Ser1387del
ENST00000389817.7:c.4157_4159del ENSP00000374467.3:p.Ser1386del
ENST00000525022.1:n.23_25del
ENST00000526168.5:c.25_27del
NM_000352.4:c.4157_4159del NP_000343.2:p.Ser1386del
NM_001287174.1:c.4160_4162del NP_001274103.1:p.Ser1387del
XM_011520331.1:c.4157_4159del XP_011518633.1:p.Ser1386del
XM_011520332.1:c.4160_4162del XP_011518634.1:p.Ser1387del
XM_011520333.1:c.2657_2659del XP_011518635.1:p.Ser886del
XR_930890.1:n.4223_4225del
NM_001351295.1:c.4223_4225del NP_001338224.1:p.Ser1408del
NM_001351296.1:c.4157_4159del NP_001338225.1:p.Ser1386del
NM_001351297.1:c.4154_4156del NP_001338226.1:p.Ser1385del
NR_147094.1:n.4452_4454del
XM_017018197.2:c.4226_4228del XP_016873686.1:p.Ser1409del
XM_017018199.1:c.4223_4225del XP_016873688.1:p.Ser1408del
XM_017018201.2:c.4226_4228del XP_016873690.1:p.Ser1409del
XM_017018202.1:c.2723_2725del XP_016873691.1:p.Ser908del
XM_017018204.1:c.2114_2116del XP_016873693.1:p.Ser705del
XM_024448668.1:c.2525_2527del XP_024304436.1:p.Ser842del
XR_001747945.2:n.4298_4300del
XR_001747946.2:n.4229_4231del
XR_002957189.1:n.5879_5881del
NM_000352.6:c.4157_4159del MANE Select NP_000343.2:p.Ser1386del
NM_001287174.2:c.4160_4162del NP_001274103.1:p.Ser1387del
NM_001351295.2:c.4223_4225del NP_001338224.1:p.Ser1408del
NM_001351296.2:c.4157_4159del NP_001338225.1:p.Ser1386del
NM_001351297.2:c.4154_4156del NP_001338226.1:p.Ser1385del
NR_147094.2:n.4452_4454del
NM_001287174.3:c.4160_4162del NP_001274103.1:p.Ser1387del
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