Canonical Allele Identifier: CA16041449
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 370506
dbSNP Id: rs1057516542

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17427885_17427886del , CM000673.2:g.17427885_17427886del GRCh38
NC_000011.9:g.17449432_17449433del , CM000673.1:g.17449432_17449433del GRCh37
NC_000011.8:g.17406008_17406009del NCBI36
NG_008867.1:g.54018_54019del

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.1767_1768del
ENST00000529967.6:n.357_358del
ENST00000642611.2:n.2164_2165del
ENST00000682051.1:n.2111_2112del
ENST00000682110.1:n.2164_2165del
ENST00000682140.1:c.2095_2096del ENSP00000507829.1:p.Thr699HisfsTer?
ENST00000682185.1:n.3403_3404del
ENST00000682204.1:c.*236_*237del ENSP00000507094.1:n.*236_*237del
ENST00000682215.1:n.2164_2165del
ENST00000682288.1:c.*526_*527del ENSP00000507506.1:n.*526_*527del
ENST00000682442.1:n.2285_2286del
ENST00000682528.1:n.2164_2165del
ENST00000682673.1:n.2111_2112del
ENST00000682805.1:n.2164_2165del
ENST00000682965.1:c.2095_2096del ENSP00000508229.1:p.Thr699HisfsTer?
ENST00000683093.1:n.2266_2267del
ENST00000683136.1:c.2095_2096del ENSP00000507768.1:p.Thr699HisfsTer?
ENST00000683153.1:n.2323_2324del
ENST00000683253.1:n.3180_3181del
ENST00000683365.1:n.2266_2267del
ENST00000683377.1:n.2164_2165del
ENST00000683456.1:c.2095_2096del ENSP00000508318.1:p.Thr699HisfsTer?
ENST00000683522.1:n.2164_2165del
ENST00000683562.1:c.*267_*268del ENSP00000508265.1:n.*267_*268del
ENST00000683693.1:n.2164_2165del
ENST00000683725.1:c.2098_2099del ENSP00000507496.1:p.Thr700HisfsTer?
ENST00000684010.1:n.2164_2165del
ENST00000684157.1:n.2164_2165del
ENST00000684253.1:n.2070_2071del
ENST00000684288.1:c.*267_*268del ENSP00000507143.1:n.*267_*268del
ENST00000684313.1:n.1724-10923_1724-10922del
ENST00000684332.1:n.2237_2238del
ENST00000684371.1:n.2270_2271del
ENST00000684404.1:n.2164_2165del
ENST00000684442.1:n.2164_2165del
ENST00000684555.1:c.*307_*308del ENSP00000507705.1:n.*307_*308del
ENST00000684571.1:c.1939_1940del ENSP00000506935.1:p.Thr647HisfsTer?
ENST00000684593.1:c.*1803_*1804del ENSP00000507005.1:n.*1803_*1804del
ENST00000684711.1:c.*494_*495del ENSP00000506841.1:n.*494_*495del
ENST00000302539.9:c.2098_2099del ENSP00000303960.4:p.Thr700HisfsTer?
ENST00000389817.8:c.2098_2099del MANE Select ENSP00000374467.4:p.Thr700HisfsTer?
ENST00000642271.1:c.2095_2096del ENSP00000493749.1:p.Thr699HisfsTer?
ENST00000642579.1:c.179_180del
ENST00000642611.1:n.2049_2050del
ENST00000642902.1:c.1933_1934del
ENST00000643260.1:c.2095_2096del ENSP00000494450.1:p.Thr699HisfsTer?
ENST00000643562.1:c.*74_*75del ENSP00000496124.1:n.*74_*75del
ENST00000643925.1:c.35_36del
ENST00000644447.1:c.451_452del ENSP00000496282.1:p.Thr151HisfsTer?
ENST00000644472.1:c.*459_*460del ENSP00000495378.1:n.*459_*460del
ENST00000644484.1:c.*307_*308del ENSP00000493558.1:n.*307_*308del
ENST00000644542.1:c.*1800_*1801del ENSP00000495532.1:n.*1800_*1801del
ENST00000644675.1:c.*267_*268del ENSP00000494567.1:n.*267_*268del
ENST00000644757.1:c.*400_*401del ENSP00000495085.1:n.*400_*401del
ENST00000644772.1:c.2164_2165del ENSP00000494321.1:p.Thr722HisfsTer?
ENST00000645076.1:c.1350_1351del
ENST00000645744.1:c.*459_*460del ENSP00000494564.1:n.*459_*460del
ENST00000645760.1:c.2373_2374del
ENST00000645884.1:c.2095_2096del ENSP00000495516.1:p.Thr699HisfsTer?
ENST00000646003.1:c.*236_*237del ENSP00000495259.1:n.*236_*237del
ENST00000646207.1:c.*459_*460del ENSP00000495025.1:n.*459_*460del
ENST00000646276.1:c.*368_*369del ENSP00000496070.1:n.*368_*369del
ENST00000646592.1:c.1321_1322del
ENST00000646902.1:c.2095_2096del ENSP00000494101.1:p.Thr699HisfsTer?
ENST00000646993.1:c.*494_*495del ENSP00000493720.1:n.*494_*495del
ENST00000647013.1:c.2101_2102del ENSP00000496741.1:n.2101_2102del
ENST00000647015.1:c.1846_1847del ENSP00000495389.1:p.Thr616HisfsTer?
ENST00000647086.1:c.*1825_*1826del ENSP00000493677.1:n.*1825_*1826del
ENST00000647158.1:c.*236_*237del ENSP00000495744.1:n.*236_*237del
ENST00000302539.8:c.2098_2099del ENSP00000303960.4:p.Thr700HisfsTer?
ENST00000389817.7:c.2098_2099del ENSP00000374467.3:p.Thr700HisfsTer?
ENST00000527905.5:c.2068_2069del ENSP00000431653.1:p.Thr690HisfsTer?
ENST00000531911.1:n.209_210del
NM_000352.4:c.2098_2099del NP_000343.2:p.Thr700HisfsTer?
NM_001287174.1:c.2098_2099del NP_001274103.1:p.Thr700HisfsTer?
XM_011520331.1:c.2095_2096del XP_011518633.1:p.Thr699HisfsTer?
XM_011520332.1:c.2098_2099del XP_011518634.1:p.Thr700HisfsTer?
XM_011520333.1:c.595_596del XP_011518635.1:p.Thr199HisfsTer?
XM_011520334.1:c.2098_2099del XP_011518636.1:p.Thr700HisfsTer?
XR_930890.1:n.2161_2162del
XR_930891.1:n.2161_2162del
XR_930892.1:n.2161_2162del
XR_930893.1:n.2161_2162del
NM_001351295.1:c.2164_2165del NP_001338224.1:p.Thr722HisfsTer?
NM_001351296.1:c.2095_2096del NP_001338225.1:p.Thr699HisfsTer?
NM_001351297.1:c.2095_2096del NP_001338226.1:p.Thr699HisfsTer?
NR_147094.1:n.2164_2165del
XM_017018197.2:c.2164_2165del XP_016873686.1:p.Thr722HisfsTer?
XM_017018199.1:c.2161_2162del XP_016873688.1:p.Thr721HisfsTer?
XM_017018201.2:c.2164_2165del XP_016873690.1:p.Thr722HisfsTer?
XM_017018202.1:c.661_662del XP_016873691.1:p.Thr221HisfsTer?
XM_017018204.1:c.55_56del XP_016873693.1:p.Thr19HisfsTer?
XM_024448668.1:c.463_464del XP_024304436.1:p.Thr155HisfsTer?
XR_001747945.2:n.2236_2237del
XR_001747946.2:n.2170_2171del
XR_002957189.1:n.2236_2237del
NM_000352.6:c.2098_2099del MANE Select NP_000343.2:p.Thr700HisfsTer?
NM_001287174.2:c.2098_2099del NP_001274103.1:p.Thr700HisfsTer?
NM_001351295.2:c.2164_2165del NP_001338224.1:p.Thr722HisfsTer?
NM_001351296.2:c.2095_2096del NP_001338225.1:p.Thr699HisfsTer?
NM_001351297.2:c.2095_2096del NP_001338226.1:p.Thr699HisfsTer?
NR_147094.2:n.2164_2165del
NM_001287174.3:c.2098_2099del NP_001274103.1:p.Thr700HisfsTer?