Canonical Allele Identifier: CA2580082759
Gene: ABCC8 HGNC NCBI
ClinVar Allele:
2188785
ClinVar RCV:
RCV003048662
ClinVar Variation:
2135530
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17414595_17414605del , CM000673.2:g.17414595_17414605del GRCh38
NC_000011.9:g.17436142_17436152del , CM000673.1:g.17436142_17436152del GRCh37
NC_000011.8:g.17392718_17392728del NCBI36
NG_008867.1:g.67299_67309del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.1967_1977del
ENST00000529967.6:n.557_567del
ENST00000642611.2:n.2367_2377del
ENST00000682051.1:n.2314_2324del
ENST00000682110.1:n.2367_2377del
ENST00000682140.1:c.2295_2305del ENSP00000507829.1:p.Arg765SerfsTer21
ENST00000682185.1:n.3603_3613del
ENST00000682204.1:c.*436_*446del ENSP00000507094.1:n.*436_*446del
ENST00000682215.1:n.2364_2374del
ENST00000682288.1:c.*729_*739del ENSP00000507506.1:n.*729_*739del
ENST00000682442.1:n.2488_2498del
ENST00000682528.1:n.2364_2374del
ENST00000682673.1:n.2311_2321del
ENST00000682805.1:n.2364_2374del
ENST00000682965.1:c.2295_2305del ENSP00000508229.1:p.Arg765SerfsTer21
ENST00000683093.1:n.2466_2476del
ENST00000683136.1:c.2295_2305del ENSP00000507768.1:p.Arg765SerfsTer21
ENST00000683153.1:n.2523_2533del
ENST00000683365.1:n.2469_2479del
ENST00000683377.1:n.2367_2377del
ENST00000683456.1:c.2298_2308del ENSP00000508318.1:p.Arg766SerfsTer21
ENST00000683522.1:n.2367_2377del
ENST00000683562.1:c.*467_*477del ENSP00000508265.1:n.*467_*477del
ENST00000683693.1:n.2364_2374del
ENST00000683725.1:c.2298_2308del ENSP00000507496.1:p.Arg766SerfsTer21
ENST00000684010.1:n.2367_2377del
ENST00000684157.1:n.2367_2377del
ENST00000684253.1:n.2270_2280del
ENST00000684288.1:c.*470_*480del ENSP00000507143.1:n.*470_*480del
ENST00000684313.1:n.1799_1809del
ENST00000684332.1:n.2440_2450del
ENST00000684371.1:n.2473_2483del
ENST00000684404.1:n.2364_2374del
ENST00000684442.1:n.2367_2377del
ENST00000684555.1:c.*510_*520del ENSP00000507705.1:n.*510_*520del
ENST00000684571.1:c.2139_2149del ENSP00000506935.1:p.Arg713SerfsTer21
ENST00000684593.1:c.*2003_*2013del ENSP00000507005.1:n.*2003_*2013del
ENST00000684711.1:c.*694_*704del ENSP00000506841.1:n.*694_*704del
ENST00000302539.9:c.2301_2311del ENSP00000303960.4:p.Arg767SerfsTer21
ENST00000389817.8:c.2298_2308del MANE Select ENSP00000374467.4:p.Arg766SerfsTer21
ENST00000642271.1:c.2295_2305del ENSP00000493749.1:p.Arg765SerfsTer21
ENST00000642579.1:c.382_392del
ENST00000642611.1:n.2252_2262del
ENST00000642902.1:c.2133_2143del
ENST00000643260.1:c.2298_2308del ENSP00000494450.1:p.Arg766SerfsTer21
ENST00000643562.1:c.*274_*284del ENSP00000496124.1:n.*274_*284del
ENST00000643925.1:c.238_248del
ENST00000644447.1:c.654_664del ENSP00000496282.1:p.Arg218SerfsTer21
ENST00000644472.1:c.*659_*669del ENSP00000495378.1:n.*659_*669del
ENST00000644484.1:c.*507_*517del ENSP00000493558.1:n.*507_*517del
ENST00000644542.1:c.*2003_*2013del ENSP00000495532.1:n.*2003_*2013del
ENST00000644675.1:c.*470_*480del ENSP00000494567.1:n.*470_*480del
ENST00000644757.1:c.*603_*613del ENSP00000495085.1:n.*603_*613del
ENST00000644772.1:c.2364_2374del ENSP00000494321.1:p.Arg788SerfsTer21
ENST00000645076.1:c.1550_1560del
ENST00000645744.1:c.*662_*672del ENSP00000494564.1:n.*662_*672del
ENST00000645760.1:c.2573_2583del
ENST00000645884.1:c.2298_2308del ENSP00000495516.1:p.Arg766SerfsTer21
ENST00000646003.1:c.*439_*449del ENSP00000495259.1:n.*439_*449del
ENST00000646207.1:c.*662_*672del ENSP00000495025.1:n.*662_*672del
ENST00000646276.1:c.*571_*581del ENSP00000496070.1:n.*571_*581del
ENST00000646592.1:c.1524_1534del
ENST00000646902.1:c.2295_2305del ENSP00000494101.1:p.Arg765SerfsTer21
ENST00000646993.1:c.*694_*704del ENSP00000493720.1:n.*694_*704del
ENST00000647013.1:c.2304_2314del ENSP00000496741.1:n.2304_2314del
ENST00000647015.1:c.2049_2059del ENSP00000495389.1:p.Arg683SerfsTer21
ENST00000647086.1:c.*2028_*2038del ENSP00000493677.1:n.*2028_*2038del
ENST00000647158.1:c.*439_*449del ENSP00000495744.1:n.*439_*449del
ENST00000302539.8:c.2301_2311del ENSP00000303960.4:p.Arg767SerfsTer21
ENST00000389817.7:c.2298_2308del ENSP00000374467.3:p.Arg766SerfsTer21
ENST00000527905.5:c.2268_2278del ENSP00000431653.1:p.Arg756SerfsTer21
ENST00000531911.1:n.412_422del
NM_000352.4:c.2298_2308del NP_000343.2:p.Arg766SerfsTer21
NM_001287174.1:c.2301_2311del NP_001274103.1:p.Arg767SerfsTer21
XM_011520331.1:c.2298_2308del XP_011518633.1:p.Arg766SerfsTer21
XM_011520332.1:c.2301_2311del XP_011518634.1:p.Arg767SerfsTer21
XM_011520333.1:c.798_808del XP_011518635.1:p.Arg266SerfsTer21
XM_011520334.1:c.2301_2311del XP_011518636.1:p.Arg767SerfsTer21
XR_930890.1:n.2364_2374del
XR_930891.1:n.2364_2374del
XR_930892.1:n.2364_2374del
XR_930893.1:n.2361_2371del
NM_001351295.1:c.2364_2374del NP_001338224.1:p.Arg788SerfsTer21
NM_001351296.1:c.2298_2308del NP_001338225.1:p.Arg766SerfsTer21
NM_001351297.1:c.2295_2305del NP_001338226.1:p.Arg765SerfsTer21
NR_147094.1:n.2367_2377del
XM_017018197.2:c.2367_2377del XP_016873686.1:p.Arg789SerfsTer21
XM_017018199.1:c.2364_2374del XP_016873688.1:p.Arg788SerfsTer21
XM_017018201.2:c.2367_2377del XP_016873690.1:p.Arg789SerfsTer21
XM_017018202.1:c.864_874del XP_016873691.1:p.Arg288SerfsTer21
XM_017018204.1:c.255_265del XP_016873693.1:p.Arg85SerfsTer21
XM_024448668.1:c.666_676del XP_024304436.1:p.Arg222SerfsTer21
XR_001747945.2:n.2439_2449del
XR_001747946.2:n.2370_2380del
XR_002957189.1:n.2439_2449del
NM_000352.6:c.2298_2308del MANE Select NP_000343.2:p.Arg766SerfsTer21
NM_001287174.2:c.2301_2311del NP_001274103.1:p.Arg767SerfsTer21
NM_001351295.2:c.2364_2374del NP_001338224.1:p.Arg788SerfsTer21
NM_001351296.2:c.2298_2308del NP_001338225.1:p.Arg766SerfsTer21
NM_001351297.2:c.2295_2305del NP_001338226.1:p.Arg765SerfsTer21
NR_147094.2:n.2367_2377del
NM_001287174.3:c.2301_2311del NP_001274103.1:p.Arg767SerfsTer21
Search 100 bp 5'
Search 100 bp 3'