Canonical Allele Identifier: CA2723214268
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs2133470511

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17412729del , CM000673.2:g.17412729del GRCh38
NC_000011.9:g.17434276del , CM000673.1:g.17434276del GRCh37
NC_000011.8:g.17390852del NCBI36
NG_008867.1:g.69174del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2162del
ENST00000529967.6:n.752del
ENST00000642611.2:n.2562del
ENST00000682051.1:n.2509del
ENST00000682110.1:n.2562del
ENST00000682140.1:c.2490del ENSP00000507829.1:p.Gly831ValfsTer?
ENST00000682185.1:n.3798del
ENST00000682204.1:c.*631del ENSP00000507094.1:n.*631del
ENST00000682215.1:n.2559del
ENST00000682288.1:c.*924del ENSP00000507506.1:n.*924del
ENST00000682442.1:n.2683del
ENST00000682528.1:n.2559del
ENST00000682673.1:n.2506del
ENST00000682805.1:n.2559del
ENST00000682965.1:c.2490del ENSP00000508229.1:p.Gly831ValfsTer?
ENST00000683093.1:n.2661del
ENST00000683136.1:c.2490del ENSP00000507768.1:p.Gly831ValfsTer?
ENST00000683153.1:n.2718del
ENST00000683365.1:n.2664del
ENST00000683377.1:n.2562del
ENST00000683456.1:c.2493del ENSP00000508318.1:p.Gly832ValfsTer?
ENST00000683522.1:n.2562del
ENST00000683562.1:c.*662del ENSP00000508265.1:n.*662del
ENST00000683693.1:n.2559del
ENST00000683725.1:c.2493del ENSP00000507496.1:p.Gly832ValfsTer?
ENST00000684010.1:n.2477del
ENST00000684157.1:n.2562del
ENST00000684253.1:n.2465del
ENST00000684288.1:c.*665del ENSP00000507143.1:n.*665del
ENST00000684313.1:n.1994del
ENST00000684332.1:n.2635del
ENST00000684371.1:n.2668del
ENST00000684404.1:n.2559del
ENST00000684442.1:n.2562del
ENST00000684555.1:c.*705del ENSP00000507705.1:n.*705del
ENST00000684571.1:c.2334del ENSP00000506935.1:p.Gly779ValfsTer?
ENST00000684593.1:c.*2198del ENSP00000507005.1:n.*2198del
ENST00000684711.1:c.*889del ENSP00000506841.1:n.*889del
ENST00000302539.9:c.2496del ENSP00000303960.4:p.Gly833ValfsTer?
ENST00000389817.8:c.2493del MANE Select ENSP00000374467.4:p.Gly832ValfsTer?
ENST00000642271.1:c.2490del ENSP00000493749.1:p.Gly831ValfsTer?
ENST00000642579.1:c.577del
ENST00000642611.1:n.2447del
ENST00000642902.1:c.2328del
ENST00000643260.1:c.2493del ENSP00000494450.1:p.Gly832ValfsTer?
ENST00000643562.1:c.*469del ENSP00000496124.1:n.*469del
ENST00000643925.1:c.537del
ENST00000644447.1:c.849del ENSP00000496282.1:p.Gly284ValfsTer?
ENST00000644472.1:c.*854del ENSP00000495378.1:n.*854del
ENST00000644484.1:c.*702del ENSP00000493558.1:n.*702del
ENST00000644542.1:c.*2198del ENSP00000495532.1:n.*2198del
ENST00000644675.1:c.*665del ENSP00000494567.1:n.*665del
ENST00000644757.1:c.*798del ENSP00000495085.1:n.*798del
ENST00000644772.1:c.2559del ENSP00000494321.1:p.Gly854ValfsTer?
ENST00000645076.1:c.1745del
ENST00000645744.1:c.*857del ENSP00000494564.1:n.*857del
ENST00000645760.1:c.2768del
ENST00000645884.1:c.2493del ENSP00000495516.1:p.Gly832ValfsTer?
ENST00000646003.1:c.*549del ENSP00000495259.1:n.*549del
ENST00000646207.1:c.*857del ENSP00000495025.1:n.*857del
ENST00000646276.1:c.*766del ENSP00000496070.1:n.*766del
ENST00000646592.1:c.1719del
ENST00000646902.1:c.2490del ENSP00000494101.1:p.Gly831ValfsTer?
ENST00000646993.1:c.*889del ENSP00000493720.1:n.*889del
ENST00000647013.1:c.2499del ENSP00000496741.1:n.2499del
ENST00000647015.1:c.2244del ENSP00000495389.1:p.Gly749ValfsTer?
ENST00000647086.1:c.*2223del ENSP00000493677.1:n.*2223del
ENST00000647158.1:c.*634del ENSP00000495744.1:n.*634del
ENST00000302539.8:c.2496del ENSP00000303960.4:p.Gly833ValfsTer?
ENST00000389817.7:c.2493del ENSP00000374467.3:p.Gly832ValfsTer?
ENST00000526921.5:n.177del
ENST00000527905.5:c.2463del ENSP00000431653.1:p.Gly822ValfsTer?
ENST00000529967.5:n.162del
ENST00000530147.5:n.76del
ENST00000531911.1:n.607del
NM_000352.4:c.2493del NP_000343.2:p.Gly832ValfsTer?
NM_001287174.1:c.2496del NP_001274103.1:p.Gly833ValfsTer?
XM_011520331.1:c.2493del XP_011518633.1:p.Gly832ValfsTer?
XM_011520332.1:c.2496del XP_011518634.1:p.Gly833ValfsTer?
XM_011520333.1:c.993del XP_011518635.1:p.Gly332ValfsTer?
XM_011520334.1:c.2496del XP_011518636.1:p.Gly833ValfsTer?
XR_930890.1:n.2559del
XR_930891.1:n.2559del
XR_930892.1:n.2559del
XR_930893.1:n.2556del
NM_001351295.1:c.2559del NP_001338224.1:p.Gly854ValfsTer?
NM_001351296.1:c.2493del NP_001338225.1:p.Gly832ValfsTer?
NM_001351297.1:c.2490del NP_001338226.1:p.Gly831ValfsTer?
NR_147094.1:n.2562del
XM_017018197.2:c.2562del XP_016873686.1:p.Gly855ValfsTer?
XM_017018199.1:c.2559del XP_016873688.1:p.Gly854ValfsTer?
XM_017018201.2:c.2562del XP_016873690.1:p.Gly855ValfsTer?
XM_017018202.1:c.1059del XP_016873691.1:p.Gly354ValfsTer?
XM_017018204.1:c.450del XP_016873693.1:p.Gly151ValfsTer?
XM_024448668.1:c.861del XP_024304436.1:p.Gly288ValfsTer?
XR_001747945.2:n.2634del
XR_001747946.2:n.2565del
XR_002957189.1:n.2634del
NM_000352.6:c.2493del MANE Select NP_000343.2:p.Gly832ValfsTer?
NM_001287174.2:c.2496del NP_001274103.1:p.Gly833ValfsTer?
NM_001351295.2:c.2559del NP_001338224.1:p.Gly854ValfsTer?
NM_001351296.2:c.2493del NP_001338225.1:p.Gly832ValfsTer?
NM_001351297.2:c.2490del NP_001338226.1:p.Gly831ValfsTer?
NR_147094.2:n.2562del
NM_001287174.3:c.2496del NP_001274103.1:p.Gly833ValfsTer?