Canonical Allele Identifier: CA2612664638
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17428525_17428527del , CM000673.2:g.17428525_17428527del GRCh38
NC_000011.9:g.17450072_17450074del , CM000673.1:g.17450072_17450074del GRCh37
NC_000011.8:g.17406648_17406650del NCBI36
NG_008867.1:g.53378_53380del

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.1592+40_1592+42del
ENST00000529967.6:n.63_65del
ENST00000642611.2:n.1989+40_1989+42del
ENST00000682051.1:n.1936+40_1936+42del
ENST00000682110.1:n.1989+40_1989+42del
ENST00000682140.1:c.1920+40_1920+42del ENSP00000507829.1:n.1920+40_1920+42del
ENST00000682185.1:n.3228+40_3228+42del
ENST00000682204.1:c.*61+40_*61+42del ENSP00000507094.1:n.*61+40_*61+42del
ENST00000682215.1:n.1989+40_1989+42del
ENST00000682288.1:c.*351+40_*351+42del ENSP00000507506.1:n.*351+40_*351+42del
ENST00000682442.1:n.2110+40_2110+42del
ENST00000682528.1:n.1989+40_1989+42del
ENST00000682673.1:n.1936+40_1936+42del
ENST00000682805.1:n.1989+40_1989+42del
ENST00000682965.1:c.1920+40_1920+42del ENSP00000508229.1:n.1920+40_1920+42del
ENST00000683093.1:n.2091+40_2091+42del
ENST00000683136.1:c.1920+40_1920+42del ENSP00000507768.1:n.1920+40_1920+42del
ENST00000683153.1:n.2029_2031del
ENST00000683253.1:n.3005+40_3005+42del
ENST00000683365.1:n.2091+40_2091+42del
ENST00000683377.1:n.1989+40_1989+42del
ENST00000683456.1:c.1920+40_1920+42del ENSP00000508318.1:n.1920+40_1920+42del
ENST00000683522.1:n.1989+40_1989+42del
ENST00000683562.1:c.*92+40_*92+42del ENSP00000508265.1:n.*92+40_*92+42del
ENST00000683693.1:n.1989+40_1989+42del
ENST00000683725.1:c.1923+40_1923+42del ENSP00000507496.1:n.1923+40_1923+42del
ENST00000684010.1:n.1989+40_1989+42del
ENST00000684157.1:n.1989+40_1989+42del
ENST00000684253.1:n.1895+40_1895+42del
ENST00000684288.1:c.*92+40_*92+42del ENSP00000507143.1:n.*92+40_*92+42del
ENST00000684313.1:n.1724-11563_1724-11561del
ENST00000684332.1:n.2062+40_2062+42del
ENST00000684371.1:n.1976_1978del
ENST00000684404.1:n.1989+40_1989+42del
ENST00000684442.1:n.1989+40_1989+42del
ENST00000684555.1:c.*132+40_*132+42del ENSP00000507705.1:n.*132+40_*132+42del
ENST00000684571.1:c.1764+40_1764+42del ENSP00000506935.1:n.1764+40_1764+42del
ENST00000684593.1:c.*1628+40_*1628+42del ENSP00000507005.1:n.*1628+40_*1628+42del
ENST00000684711.1:c.*319+40_*319+42del ENSP00000506841.1:n.*319+40_*319+42del
ENST00000302539.9:c.1923+40_1923+42del ENSP00000303960.4:n.1923+40_1923+42del
ENST00000389817.8:c.1923+40_1923+42del MANE Select ENSP00000374467.4:n.1923+40_1923+42del
ENST00000532728.6:c.1504+40_1504+42del
ENST00000642271.1:c.1920+40_1920+42del ENSP00000493749.1:n.1920+40_1920+42del
ENST00000642579.1:c.4+40_4+42del
ENST00000642611.1:n.1874+40_1874+42del
ENST00000642902.1:c.1758+40_1758+42del
ENST00000643260.1:c.1920+40_1920+42del ENSP00000494450.1:n.1920+40_1920+42del
ENST00000643562.1:c.1923+40_1923+42del ENSP00000496124.1:n.1923+40_1923+42del
ENST00000644447.1:c.276+40_276+42del ENSP00000496282.1:n.276+40_276+42del
ENST00000644472.1:c.*284+40_*284+42del ENSP00000495378.1:n.*284+40_*284+42del
ENST00000644484.1:c.*132+40_*132+42del ENSP00000493558.1:n.*132+40_*132+42del
ENST00000644542.1:c.*1625+40_*1625+42del ENSP00000495532.1:n.*1625+40_*1625+42del
ENST00000644649.1:c.1093+40_1093+42del
ENST00000644675.1:c.*92+40_*92+42del ENSP00000494567.1:n.*92+40_*92+42del
ENST00000644757.1:c.*225+40_*225+42del ENSP00000495085.1:n.*225+40_*225+42del
ENST00000644772.1:c.1923+40_1923+42del ENSP00000494321.1:n.1923+40_1923+42del
ENST00000645076.1:c.1175+40_1175+42del
ENST00000645744.1:c.*284+40_*284+42del ENSP00000494564.1:n.*284+40_*284+42del
ENST00000645760.1:c.2198+40_2198+42del
ENST00000645884.1:c.1920+40_1920+42del ENSP00000495516.1:n.1920+40_1920+42del
ENST00000646003.1:c.*61+40_*61+42del ENSP00000495259.1:n.*61+40_*61+42del
ENST00000646207.1:c.*284+40_*284+42del ENSP00000495025.1:n.*284+40_*284+42del
ENST00000646276.1:c.*193+40_*193+42del ENSP00000496070.1:n.*193+40_*193+42del
ENST00000646592.1:c.1027_1029del
ENST00000646902.1:c.1920+40_1920+42del ENSP00000494101.1:n.1920+40_1920+42del
ENST00000646993.1:c.*319+40_*319+42del ENSP00000493720.1:n.*319+40_*319+42del
ENST00000647013.1:c.1926+40_1926+42del ENSP00000496741.1:n.1926+40_1926+42del
ENST00000647015.1:c.1672-120_1672-118del ENSP00000495389.1:n.1672-120_1672-118del
ENST00000647086.1:c.*1650+40_*1650+42del ENSP00000493677.1:n.*1650+40_*1650+42del
ENST00000647158.1:c.*61+40_*61+42del ENSP00000495744.1:n.*61+40_*61+42del
ENST00000302539.8:c.1923+40_1923+42del ENSP00000303960.4:n.1923+40_1923+42del
ENST00000389817.7:c.1923+40_1923+42del ENSP00000374467.3:n.1923+40_1923+42del
ENST00000527905.5:c.1893+40_1893+42del ENSP00000431653.1:n.1893+40_1893+42del
NM_000352.4:c.1923+40_1923+42del NP_000343.2:n.1923+40_1923+42del
NM_001287174.1:c.1923+40_1923+42del NP_001274103.1:n.1923+40_1923+42del
XM_011520331.1:c.1920+40_1920+42del XP_011518633.1:n.1920+40_1920+42del
XM_011520332.1:c.1923+40_1923+42del XP_011518634.1:n.1923+40_1923+42del
XM_011520333.1:c.420+40_420+42del XP_011518635.1:n.420+40_420+42del
XM_011520334.1:c.1923+40_1923+42del XP_011518636.1:n.1923+40_1923+42del
XR_930890.1:n.1986+40_1986+42del
XR_930891.1:n.1986+40_1986+42del
XR_930892.1:n.1986+40_1986+42del
XR_930893.1:n.1986+40_1986+42del
NM_001351295.1:c.1923+40_1923+42del NP_001338224.1:n.1923+40_1923+42del
NM_001351296.1:c.1920+40_1920+42del NP_001338225.1:n.1920+40_1920+42del
NM_001351297.1:c.1920+40_1920+42del NP_001338226.1:n.1920+40_1920+42del
NR_147094.1:n.1989+40_1989+42del
XM_017018197.2:c.1923+40_1923+42del XP_016873686.1:n.1923+40_1923+42del
XM_017018199.1:c.1920+40_1920+42del XP_016873688.1:n.1920+40_1920+42del
XM_017018201.2:c.1923+40_1923+42del XP_016873690.1:n.1923+40_1923+42del
XM_017018202.1:c.420+40_420+42del XP_016873691.1:n.420+40_420+42del
XM_017018204.1:c.-121+40_-121+42del XP_016873693.1:n.-121+40_-121+42del
XM_024448668.1:c.288+40_288+42del XP_024304436.1:n.288+40_288+42del
XR_001747945.2:n.1995+40_1995+42del
XR_001747946.2:n.1995+40_1995+42del
XR_002957189.1:n.1995+40_1995+42del
NM_000352.6:c.1923+40_1923+42del MANE Select NP_000343.2:n.1923+40_1923+42del
NM_001287174.2:c.1923+40_1923+42del NP_001274103.1:n.1923+40_1923+42del
NM_001351295.2:c.1923+40_1923+42del NP_001338224.1:n.1923+40_1923+42del
NM_001351296.2:c.1920+40_1920+42del NP_001338225.1:n.1920+40_1920+42del
NM_001351297.2:c.1920+40_1920+42del NP_001338226.1:n.1920+40_1920+42del
NR_147094.2:n.1989+40_1989+42del
NM_001287174.3:c.1923+40_1923+42del NP_001274103.1:n.1923+40_1923+42del