Canonical Allele Identifier: CA1955138527
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17428545_17428554delinsAGGGGAGGCC , CM000673.2:g.17428545_17428554delinsAGGGGAGGCC GRCh38
NC_000011.9:g.17450092_17450101delinsAGGGGAGGCC , CM000673.1:g.17450092_17450101delinsAGGGGAGGCC GRCh37
NC_000011.8:g.17406668_17406677delinsAGGGGAGGCC NCBI36
NG_008867.1:g.53349_53358delinsGGCCTCCCCT

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.1592+11_1592+20delinsGGCCTCCCCT
ENST00000529967.6:n.34_43delinsGGCCTCCCCT
ENST00000642611.2:n.1989+11_1989+20delinsGGCCTCCCCT
ENST00000682051.1:n.1936+11_1936+20delinsGGCCTCCCCT
ENST00000682110.1:n.1989+11_1989+20delinsGGCCTCCCCT
ENST00000682140.1:c.1920+11_1920+20delinsGGCCTCCCCT ENSP00000507829.1:n.1920+11_1920+20delins...
ENST00000682185.1:n.3228+11_3228+20delinsGGCCTCCCCT
ENST00000682204.1:c.*61+11_*61+20delinsGGCCTCCCCT ENSP00000507094.1:n.*61+11_*61+20delinsGG...
ENST00000682215.1:n.1989+11_1989+20delinsGGCCTCCCCT
ENST00000682288.1:c.*351+11_*351+20delinsGGCCTCCCCT ENSP00000507506.1:n.*351+11_*351+20delins...
ENST00000682442.1:n.2110+11_2110+20delinsGGCCTCCCCT
ENST00000682528.1:n.1989+11_1989+20delinsGGCCTCCCCT
ENST00000682673.1:n.1936+11_1936+20delinsGGCCTCCCCT
ENST00000682805.1:n.1989+11_1989+20delinsGGCCTCCCCT
ENST00000682965.1:c.1920+11_1920+20delinsGGCCTCCCCT ENSP00000508229.1:n.1920+11_1920+20delins...
ENST00000683093.1:n.2091+11_2091+20delinsGGCCTCCCCT
ENST00000683136.1:c.1920+11_1920+20delinsGGCCTCCCCT ENSP00000507768.1:n.1920+11_1920+20delins...
ENST00000683153.1:n.2000_2009delinsGGCCTCCCCT
ENST00000683253.1:n.3005+11_3005+20delinsGGCCTCCCCT
ENST00000683365.1:n.2091+11_2091+20delinsGGCCTCCCCT
ENST00000683377.1:n.1989+11_1989+20delinsGGCCTCCCCT
ENST00000683456.1:c.1920+11_1920+20delinsGGCCTCCCCT ENSP00000508318.1:n.1920+11_1920+20delins...
ENST00000683522.1:n.1989+11_1989+20delinsGGCCTCCCCT
ENST00000683562.1:c.*92+11_*92+20delinsGGCCTCCCCT ENSP00000508265.1:n.*92+11_*92+20delinsGG...
ENST00000683693.1:n.1989+11_1989+20delinsGGCCTCCCCT
ENST00000683725.1:c.1923+11_1923+20delinsGGCCTCCCCT ENSP00000507496.1:n.1923+11_1923+20delins...
ENST00000684010.1:n.1989+11_1989+20delinsGGCCTCCCCT
ENST00000684157.1:n.1989+11_1989+20delinsGGCCTCCCCT
ENST00000684253.1:n.1895+11_1895+20delinsGGCCTCCCCT
ENST00000684288.1:c.*92+11_*92+20delinsGGCCTCCCCT ENSP00000507143.1:n.*92+11_*92+20delinsGG...
ENST00000684313.1:n.1724-11592_1724-11583delinsGGCCTCCCCT
ENST00000684332.1:n.2062+11_2062+20delinsGGCCTCCCCT
ENST00000684371.1:n.1947_1956delinsGGCCTCCCCT
ENST00000684404.1:n.1989+11_1989+20delinsGGCCTCCCCT
ENST00000684442.1:n.1989+11_1989+20delinsGGCCTCCCCT
ENST00000684555.1:c.*132+11_*132+20delinsGGCCTCCCCT ENSP00000507705.1:n.*132+11_*132+20delins...
ENST00000684571.1:c.1764+11_1764+20delinsGGCCTCCCCT ENSP00000506935.1:n.1764+11_1764+20delins...
ENST00000684593.1:c.*1628+11_*1628+20delinsGGCCTCCCCT ENSP00000507005.1:n.*1628+11_*1628+20deli...
ENST00000684711.1:c.*319+11_*319+20delinsGGCCTCCCCT ENSP00000506841.1:n.*319+11_*319+20delins...
ENST00000302539.9:c.1923+11_1923+20delinsGGCCTCCCCT ENSP00000303960.4:n.1923+11_1923+20delins...
ENST00000389817.8:c.1923+11_1923+20delinsGGCCTCCCCT MANE Select ENSP00000374467.4:n.1923+11_1923+20delins...
ENST00000532728.6:c.1504+11_1504+20delinsGGCCTCCCCT
ENST00000642271.1:c.1920+11_1920+20delinsGGCCTCCCCT ENSP00000493749.1:n.1920+11_1920+20delins...
ENST00000642579.1:c.4+11_4+20delinsGGCCTCCCCT
ENST00000642611.1:n.1874+11_1874+20delinsGGCCTCCCCT
ENST00000642902.1:c.1758+11_1758+20delinsGGCCTCCCCT
ENST00000643260.1:c.1920+11_1920+20delinsGGCCTCCCCT ENSP00000494450.1:n.1920+11_1920+20delins...
ENST00000643562.1:c.1923+11_1923+20delinsGGCCTCCCCT ENSP00000496124.1:n.1923+11_1923+20delins...
ENST00000644447.1:c.276+11_276+20delinsGGCCTCCCCT ENSP00000496282.1:n.276+11_276+20delinsGG...
ENST00000644472.1:c.*284+11_*284+20delinsGGCCTCCCCT ENSP00000495378.1:n.*284+11_*284+20delins...
ENST00000644484.1:c.*132+11_*132+20delinsGGCCTCCCCT ENSP00000493558.1:n.*132+11_*132+20delins...
ENST00000644542.1:c.*1625+11_*1625+20delinsGGCCTCCCCT ENSP00000495532.1:n.*1625+11_*1625+20deli...
ENST00000644649.1:c.1093+11_1093+20delinsGGCCTCCCCT
ENST00000644675.1:c.*92+11_*92+20delinsGGCCTCCCCT ENSP00000494567.1:n.*92+11_*92+20delinsGG...
ENST00000644757.1:c.*225+11_*225+20delinsGGCCTCCCCT ENSP00000495085.1:n.*225+11_*225+20delins...
ENST00000644772.1:c.1923+11_1923+20delinsGGCCTCCCCT ENSP00000494321.1:n.1923+11_1923+20delins...
ENST00000645076.1:c.1175+11_1175+20delinsGGCCTCCCCT
ENST00000645744.1:c.*284+11_*284+20delinsGGCCTCCCCT ENSP00000494564.1:n.*284+11_*284+20delins...
ENST00000645760.1:c.2198+11_2198+20delinsGGCCTCCCCT
ENST00000645884.1:c.1920+11_1920+20delinsGGCCTCCCCT ENSP00000495516.1:n.1920+11_1920+20delins...
ENST00000646003.1:c.*61+11_*61+20delinsGGCCTCCCCT ENSP00000495259.1:n.*61+11_*61+20delinsGG...
ENST00000646207.1:c.*284+11_*284+20delinsGGCCTCCCCT ENSP00000495025.1:n.*284+11_*284+20delins...
ENST00000646276.1:c.*193+11_*193+20delinsGGCCTCCCCT ENSP00000496070.1:n.*193+11_*193+20delins...
ENST00000646592.1:c.998_1007delinsGGCCTCCCCT
ENST00000646902.1:c.1920+11_1920+20delinsGGCCTCCCCT ENSP00000494101.1:n.1920+11_1920+20delins...
ENST00000646993.1:c.*319+11_*319+20delinsGGCCTCCCCT ENSP00000493720.1:n.*319+11_*319+20delins...
ENST00000647013.1:c.1926+11_1926+20delinsGGCCTCCCCT ENSP00000496741.1:n.1926+11_1926+20delins...
ENST00000647015.1:c.1672-149_1672-140delinsGGCCTCCCCT ENSP00000495389.1:n.1672-149_1672-140deli...
ENST00000647086.1:c.*1650+11_*1650+20delinsGGCCTCCCCT ENSP00000493677.1:n.*1650+11_*1650+20deli...
ENST00000647158.1:c.*61+11_*61+20delinsGGCCTCCCCT ENSP00000495744.1:n.*61+11_*61+20delinsGG...
ENST00000302539.8:c.1923+11_1923+20delinsGGCCTCCCCT ENSP00000303960.4:n.1923+11_1923+20delins...
ENST00000389817.7:c.1923+11_1923+20delinsGGCCTCCCCT ENSP00000374467.3:n.1923+11_1923+20delins...
ENST00000527905.5:c.1893+11_1893+20delinsGGCCTCCCCT ENSP00000431653.1:n.1893+11_1893+20delins...
NM_000352.4:c.1923+11_1923+20delinsGGCCTCCCCT NP_000343.2:n.1923+11_1923+20delinsGGCCTC...
NM_001287174.1:c.1923+11_1923+20delinsGGCCTCCCCT NP_001274103.1:n.1923+11_1923+20delinsGGC...
XM_011520331.1:c.1920+11_1920+20delinsGGCCTCCCCT XP_011518633.1:n.1920+11_1920+20delinsGGC...
XM_011520332.1:c.1923+11_1923+20delinsGGCCTCCCCT XP_011518634.1:n.1923+11_1923+20delinsGGC...
XM_011520333.1:c.420+11_420+20delinsGGCCTCCCCT XP_011518635.1:n.420+11_420+20delinsGGCCT...
XM_011520334.1:c.1923+11_1923+20delinsGGCCTCCCCT XP_011518636.1:n.1923+11_1923+20delinsGGC...
XR_930890.1:n.1986+11_1986+20delinsGGCCTCCCCT
XR_930891.1:n.1986+11_1986+20delinsGGCCTCCCCT
XR_930892.1:n.1986+11_1986+20delinsGGCCTCCCCT
XR_930893.1:n.1986+11_1986+20delinsGGCCTCCCCT
NM_001351295.1:c.1923+11_1923+20delinsGGCCTCCCCT NP_001338224.1:n.1923+11_1923+20delinsGGC...
NM_001351296.1:c.1920+11_1920+20delinsGGCCTCCCCT NP_001338225.1:n.1920+11_1920+20delinsGGC...
NM_001351297.1:c.1920+11_1920+20delinsGGCCTCCCCT NP_001338226.1:n.1920+11_1920+20delinsGGC...
NR_147094.1:n.1989+11_1989+20delinsGGCCTCCCCT
XM_017018197.2:c.1923+11_1923+20delinsGGCCTCCCCT XP_016873686.1:n.1923+11_1923+20delinsGGC...
XM_017018199.1:c.1920+11_1920+20delinsGGCCTCCCCT XP_016873688.1:n.1920+11_1920+20delinsGGC...
XM_017018201.2:c.1923+11_1923+20delinsGGCCTCCCCT XP_016873690.1:n.1923+11_1923+20delinsGGC...
XM_017018202.1:c.420+11_420+20delinsGGCCTCCCCT XP_016873691.1:n.420+11_420+20delinsGGCCT...
XM_017018204.1:c.-121+11_-121+20delinsGGCCTCCCCT XP_016873693.1:n.-121+11_-121+20delinsGGC...
XM_024448668.1:c.288+11_288+20delinsGGCCTCCCCT XP_024304436.1:n.288+11_288+20delinsGGCCT...
XR_001747945.2:n.1995+11_1995+20delinsGGCCTCCCCT
XR_001747946.2:n.1995+11_1995+20delinsGGCCTCCCCT
XR_002957189.1:n.1995+11_1995+20delinsGGCCTCCCCT
NM_000352.6:c.1923+11_1923+20delinsGGCCTCCCCT MANE Select NP_000343.2:n.1923+11_1923+20delinsGGCCTC...
NM_001287174.2:c.1923+11_1923+20delinsGGCCTCCCCT NP_001274103.1:n.1923+11_1923+20delinsGGC...
NM_001351295.2:c.1923+11_1923+20delinsGGCCTCCCCT NP_001338224.1:n.1923+11_1923+20delinsGGC...
NM_001351296.2:c.1920+11_1920+20delinsGGCCTCCCCT NP_001338225.1:n.1920+11_1920+20delinsGGC...
NM_001351297.2:c.1920+11_1920+20delinsGGCCTCCCCT NP_001338226.1:n.1920+11_1920+20delinsGGC...
NR_147094.2:n.1989+11_1989+20delinsGGCCTCCCCT
NM_001287174.3:c.1923+11_1923+20delinsGGCCTCCCCT NP_001274103.1:n.1923+11_1923+20delinsGGC...