Canonical Allele Identifier: CA2612664634
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17428516_17428517del , CM000673.2:g.17428516_17428517del GRCh38
NC_000011.9:g.17450063_17450064del , CM000673.1:g.17450063_17450064del GRCh37
NC_000011.8:g.17406639_17406640del NCBI36
NG_008867.1:g.53387_53388del

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.1592+49_1592+50del
ENST00000529967.6:n.72_73del
ENST00000642611.2:n.1989+49_1989+50del
ENST00000682051.1:n.1936+49_1936+50del
ENST00000682110.1:n.1989+49_1989+50del
ENST00000682140.1:c.1920+49_1920+50del ENSP00000507829.1:n.1920+49_1920+50del
ENST00000682185.1:n.3228+49_3228+50del
ENST00000682204.1:c.*61+49_*61+50del ENSP00000507094.1:n.*61+49_*61+50del
ENST00000682215.1:n.1989+49_1989+50del
ENST00000682288.1:c.*351+49_*351+50del ENSP00000507506.1:n.*351+49_*351+50del
ENST00000682442.1:n.2110+49_2110+50del
ENST00000682528.1:n.1989+49_1989+50del
ENST00000682673.1:n.1936+49_1936+50del
ENST00000682805.1:n.1989+49_1989+50del
ENST00000682965.1:c.1920+49_1920+50del ENSP00000508229.1:n.1920+49_1920+50del
ENST00000683093.1:n.2091+49_2091+50del
ENST00000683136.1:c.1920+49_1920+50del ENSP00000507768.1:n.1920+49_1920+50del
ENST00000683153.1:n.2038_2039del
ENST00000683253.1:n.3005+49_3005+50del
ENST00000683365.1:n.2091+49_2091+50del
ENST00000683377.1:n.1989+49_1989+50del
ENST00000683456.1:c.1920+49_1920+50del ENSP00000508318.1:n.1920+49_1920+50del
ENST00000683522.1:n.1989+49_1989+50del
ENST00000683562.1:c.*92+49_*92+50del ENSP00000508265.1:n.*92+49_*92+50del
ENST00000683693.1:n.1989+49_1989+50del
ENST00000683725.1:c.1923+49_1923+50del ENSP00000507496.1:n.1923+49_1923+50del
ENST00000684010.1:n.1989+49_1989+50del
ENST00000684157.1:n.1989+49_1989+50del
ENST00000684253.1:n.1895+49_1895+50del
ENST00000684288.1:c.*92+49_*92+50del ENSP00000507143.1:n.*92+49_*92+50del
ENST00000684313.1:n.1724-11554_1724-11553del
ENST00000684332.1:n.2062+49_2062+50del
ENST00000684371.1:n.1985_1986del
ENST00000684404.1:n.1989+49_1989+50del
ENST00000684442.1:n.1989+49_1989+50del
ENST00000684555.1:c.*132+49_*132+50del ENSP00000507705.1:n.*132+49_*132+50del
ENST00000684571.1:c.1764+49_1764+50del ENSP00000506935.1:n.1764+49_1764+50del
ENST00000684593.1:c.*1628+49_*1628+50del ENSP00000507005.1:n.*1628+49_*1628+50del
ENST00000684711.1:c.*319+49_*319+50del ENSP00000506841.1:n.*319+49_*319+50del
ENST00000302539.9:c.1923+49_1923+50del ENSP00000303960.4:n.1923+49_1923+50del
ENST00000389817.8:c.1923+49_1923+50del MANE Select ENSP00000374467.4:n.1923+49_1923+50del
ENST00000532728.6:c.1504+49_1504+50del
ENST00000642271.1:c.1920+49_1920+50del ENSP00000493749.1:n.1920+49_1920+50del
ENST00000642579.1:c.4+49_4+50del
ENST00000642611.1:n.1874+49_1874+50del
ENST00000642902.1:c.1758+49_1758+50del
ENST00000643260.1:c.1920+49_1920+50del ENSP00000494450.1:n.1920+49_1920+50del
ENST00000643562.1:c.1923+49_1923+50del ENSP00000496124.1:n.1923+49_1923+50del
ENST00000644447.1:c.276+49_276+50del ENSP00000496282.1:n.276+49_276+50del
ENST00000644472.1:c.*284+49_*284+50del ENSP00000495378.1:n.*284+49_*284+50del
ENST00000644484.1:c.*132+49_*132+50del ENSP00000493558.1:n.*132+49_*132+50del
ENST00000644542.1:c.*1625+49_*1625+50del ENSP00000495532.1:n.*1625+49_*1625+50del
ENST00000644649.1:c.1093+49_1093+50del
ENST00000644675.1:c.*92+49_*92+50del ENSP00000494567.1:n.*92+49_*92+50del
ENST00000644757.1:c.*225+49_*225+50del ENSP00000495085.1:n.*225+49_*225+50del
ENST00000644772.1:c.1924-45_1924-44del ENSP00000494321.1:n.1924-45_1924-44del
ENST00000645076.1:c.1175+49_1175+50del
ENST00000645744.1:c.*284+49_*284+50del ENSP00000494564.1:n.*284+49_*284+50del
ENST00000645760.1:c.2198+49_2198+50del
ENST00000645884.1:c.1920+49_1920+50del ENSP00000495516.1:n.1920+49_1920+50del
ENST00000646003.1:c.*61+49_*61+50del ENSP00000495259.1:n.*61+49_*61+50del
ENST00000646207.1:c.*284+49_*284+50del ENSP00000495025.1:n.*284+49_*284+50del
ENST00000646276.1:c.*193+49_*193+50del ENSP00000496070.1:n.*193+49_*193+50del
ENST00000646592.1:c.1036_1037del
ENST00000646902.1:c.1920+49_1920+50del ENSP00000494101.1:n.1920+49_1920+50del
ENST00000646993.1:c.*319+49_*319+50del ENSP00000493720.1:n.*319+49_*319+50del
ENST00000647013.1:c.1926+49_1926+50del ENSP00000496741.1:n.1926+49_1926+50del
ENST00000647015.1:c.1672-111_1672-110del ENSP00000495389.1:n.1672-111_1672-110del
ENST00000647086.1:c.*1650+49_*1650+50del ENSP00000493677.1:n.*1650+49_*1650+50del
ENST00000647158.1:c.*61+49_*61+50del ENSP00000495744.1:n.*61+49_*61+50del
ENST00000302539.8:c.1923+49_1923+50del ENSP00000303960.4:n.1923+49_1923+50del
ENST00000389817.7:c.1923+49_1923+50del ENSP00000374467.3:n.1923+49_1923+50del
ENST00000527905.5:c.1893+49_1893+50del ENSP00000431653.1:n.1893+49_1893+50del
NM_000352.4:c.1923+49_1923+50del NP_000343.2:n.1923+49_1923+50del
NM_001287174.1:c.1923+49_1923+50del NP_001274103.1:n.1923+49_1923+50del
XM_011520331.1:c.1920+49_1920+50del XP_011518633.1:n.1920+49_1920+50del
XM_011520332.1:c.1923+49_1923+50del XP_011518634.1:n.1923+49_1923+50del
XM_011520333.1:c.420+49_420+50del XP_011518635.1:n.420+49_420+50del
XM_011520334.1:c.1923+49_1923+50del XP_011518636.1:n.1923+49_1923+50del
XR_930890.1:n.1986+49_1986+50del
XR_930891.1:n.1986+49_1986+50del
XR_930892.1:n.1986+49_1986+50del
XR_930893.1:n.1986+49_1986+50del
NM_001351295.1:c.1924-45_1924-44del NP_001338224.1:n.1924-45_1924-44del
NM_001351296.1:c.1920+49_1920+50del NP_001338225.1:n.1920+49_1920+50del
NM_001351297.1:c.1920+49_1920+50del NP_001338226.1:n.1920+49_1920+50del
NR_147094.1:n.1989+49_1989+50del
XM_017018197.2:c.1924-45_1924-44del XP_016873686.1:n.1924-45_1924-44del
XM_017018199.1:c.1921-45_1921-44del XP_016873688.1:n.1921-45_1921-44del
XM_017018201.2:c.1924-45_1924-44del XP_016873690.1:n.1924-45_1924-44del
XM_017018202.1:c.421-45_421-44del XP_016873691.1:n.421-45_421-44del
XM_017018204.1:c.-121+49_-121+50del XP_016873693.1:n.-121+49_-121+50del
XM_024448668.1:c.288+49_288+50del XP_024304436.1:n.288+49_288+50del
XR_001747945.2:n.1996-45_1996-44del
XR_001747946.2:n.1995+49_1995+50del
XR_002957189.1:n.1996-45_1996-44del
NM_000352.6:c.1923+49_1923+50del MANE Select NP_000343.2:n.1923+49_1923+50del
NM_001287174.2:c.1923+49_1923+50del NP_001274103.1:n.1923+49_1923+50del
NM_001351295.2:c.1924-45_1924-44del NP_001338224.1:n.1924-45_1924-44del
NM_001351296.2:c.1920+49_1920+50del NP_001338225.1:n.1920+49_1920+50del
NM_001351297.2:c.1920+49_1920+50del NP_001338226.1:n.1920+49_1920+50del
NR_147094.2:n.1989+49_1989+50del
NM_001287174.3:c.1923+49_1923+50del NP_001274103.1:n.1923+49_1923+50del