Canonical Allele Identifier: CA2695201089
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2676391
ClinVar RCV Id: RCV003470014

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406720del , CM000673.2:g.17406720del GRCh38
NC_000011.9:g.17428267del , CM000673.1:g.17428267del GRCh37
NC_000011.8:g.17384843del NCBI36
NG_008867.1:g.75183del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2800del
ENST00000529967.6:n.1570del
ENST00000532220.2:n.963del
ENST00000642611.2:n.3300del
ENST00000645004.2:n.730del
ENST00000682051.1:n.3247del
ENST00000682110.1:n.3300del
ENST00000682140.1:c.3228del ENSP00000507829.1:p.Cys1077AlafsTer13
ENST00000682185.1:n.4536del
ENST00000682204.1:c.*1369del ENSP00000507094.1:n.*1369del
ENST00000682215.1:n.3297del
ENST00000682288.1:c.*1662del ENSP00000507506.1:n.*1662del
ENST00000682442.1:n.3520del
ENST00000682528.1:n.3377del
ENST00000682673.1:n.3244del
ENST00000682805.1:n.3297del
ENST00000682965.1:c.3228del ENSP00000508229.1:p.Cys1077AlafsTer13
ENST00000683093.1:n.3399del
ENST00000683136.1:c.3228del ENSP00000507768.1:p.Cys1077AlafsTer13
ENST00000683153.1:n.3456del
ENST00000683365.1:n.3402del
ENST00000683377.1:n.3300del
ENST00000683456.1:c.*368del ENSP00000508318.1:n.*368del
ENST00000683522.1:n.3300del
ENST00000683562.1:c.*1400del ENSP00000508265.1:n.*1400del
ENST00000683693.1:n.3377del
ENST00000683725.1:c.3231del ENSP00000507496.1:p.Cys1078AlafsTer13
ENST00000684010.1:n.3295del
ENST00000684157.1:n.3300del
ENST00000684253.1:n.3203del
ENST00000684288.1:c.*1403del ENSP00000507143.1:n.*1403del
ENST00000684313.1:n.2732del
ENST00000684332.1:n.3373del
ENST00000684371.1:n.3406del
ENST00000684404.1:n.3343del
ENST00000684442.1:n.3300del
ENST00000684555.1:c.*1443del ENSP00000507705.1:n.*1443del
ENST00000684571.1:c.3072del ENSP00000506935.1:p.Cys1025AlafsTer13
ENST00000684593.1:c.*2936del ENSP00000507005.1:n.*2936del
ENST00000684711.1:c.*1627del ENSP00000506841.1:n.*1627del
ENST00000302539.9:c.3234del ENSP00000303960.4:p.Cys1079AlafsTer13
ENST00000389817.8:c.3231del MANE Select ENSP00000374467.4:p.Cys1078AlafsTer13
ENST00000642271.1:c.3228del ENSP00000493749.1:p.Cys1077AlafsTer13
ENST00000642579.1:c.1315del
ENST00000642611.1:n.3185del
ENST00000642902.1:c.3013del
ENST00000643260.1:c.3231del ENSP00000494450.1:p.Cys1078AlafsTer13
ENST00000643562.1:c.*1207del ENSP00000496124.1:n.*1207del
ENST00000643925.1:c.1355del
ENST00000644447.1:c.1587del ENSP00000496282.1:p.Cys530AlafsTer13
ENST00000644484.1:c.*1486del ENSP00000493558.1:n.*1486del
ENST00000644542.1:c.*3035del ENSP00000495532.1:n.*3035del
ENST00000644675.1:c.*1403del ENSP00000494567.1:n.*1403del
ENST00000644757.1:c.*1516del ENSP00000495085.1:n.*1516del
ENST00000644772.1:c.3297del ENSP00000494321.1:p.Cys1100AlafsTer13
ENST00000645004.1:n.370del
ENST00000645076.1:c.2430del
ENST00000645417.1:c.397del
ENST00000645744.1:c.*1495del ENSP00000494564.1:n.*1495del
ENST00000645760.1:c.3506del
ENST00000645884.1:c.*368del ENSP00000495516.1:n.*368del
ENST00000646003.1:c.*1187del ENSP00000495259.1:n.*1187del
ENST00000646207.1:c.*1698del ENSP00000495025.1:n.*1698del
ENST00000646276.1:c.*1504del ENSP00000496070.1:n.*1504del
ENST00000646592.1:c.2537del
ENST00000646902.1:c.3228del ENSP00000494101.1:p.Cys1077AlafsTer13
ENST00000646993.1:c.*1627del ENSP00000493720.1:n.*1627del
ENST00000647013.1:c.3237del ENSP00000496741.1:n.3237del
ENST00000647015.1:c.2982del ENSP00000495389.1:p.Cys995AlafsTer13
ENST00000647086.1:c.*2961del ENSP00000493677.1:n.*2961del
ENST00000647158.1:c.*1372del ENSP00000495744.1:n.*1372del
ENST00000302539.8:c.3234del ENSP00000303960.4:p.Cys1079AlafsTer13
ENST00000389817.7:c.3231del ENSP00000374467.3:p.Cys1078AlafsTer13
ENST00000524561.1:n.363del
ENST00000526921.5:n.915del
ENST00000527905.5:c.*107del ENSP00000431653.1:n.*107del
NM_000352.4:c.3231del NP_000343.2:p.Cys1078AlafsTer13
NM_001287174.1:c.3234del NP_001274103.1:p.Cys1079AlafsTer13
XM_011520331.1:c.3231del XP_011518633.1:p.Cys1078AlafsTer13
XM_011520332.1:c.3234del XP_011518634.1:p.Cys1079AlafsTer13
XM_011520333.1:c.1731del XP_011518635.1:p.Cys578AlafsTer13
XR_930890.1:n.3297del
XR_930891.1:n.3297del
XR_930892.1:n.3197del
XR_930893.1:n.3194del
NM_001351295.1:c.3297del NP_001338224.1:p.Cys1100AlafsTer13
NM_001351296.1:c.3231del NP_001338225.1:p.Cys1078AlafsTer13
NM_001351297.1:c.3228del NP_001338226.1:p.Cys1077AlafsTer13
NR_147094.1:n.3380del
XM_017018197.2:c.3300del XP_016873686.1:p.Cys1101AlafsTer13
XM_017018199.1:c.3297del XP_016873688.1:p.Cys1100AlafsTer13
XM_017018201.2:c.3300del XP_016873690.1:p.Cys1101AlafsTer13
XM_017018202.1:c.1797del XP_016873691.1:p.Cys600AlafsTer13
XM_017018204.1:c.1188del XP_016873693.1:p.Cys397AlafsTer13
XM_024448668.1:c.1599del XP_024304436.1:p.Cys534AlafsTer13
XR_001747945.2:n.3372del
XR_001747946.2:n.3303del
XR_002957189.1:n.3452del
NM_000352.6:c.3231del MANE Select NP_000343.2:p.Cys1078AlafsTer13
NM_001287174.2:c.3234del NP_001274103.1:p.Cys1079AlafsTer13
NM_001351295.2:c.3297del NP_001338224.1:p.Cys1100AlafsTer13
NM_001351296.2:c.3231del NP_001338225.1:p.Cys1078AlafsTer13
NM_001351297.2:c.3228del NP_001338226.1:p.Cys1077AlafsTer13
NR_147094.2:n.3380del
NM_001287174.3:c.3234del NP_001274103.1:p.Cys1079AlafsTer13