Canonical Allele Identifier: CA1955132206
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17414594_17414607delinsCCACGGGGCCTCTC , CM000673.2:g.17414594_17414607delinsCCACGGGGCCTCTC GRCh38
NC_000011.9:g.17436141_17436154delinsCCACGGGGCCTCTC , CM000673.1:g.17436141_17436154delinsCCACGGGGCCTCTC GRCh37
NC_000011.8:g.17392717_17392730delinsCCACGGGGCCTCTC NCBI36
NG_008867.1:g.67296_67309delinsGAGAGGCCCCGTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.1964_1977delinsGAGAGGCCCCGTGG
ENST00000529967.6:n.554_567delinsGAGAGGCCCCGTGG
ENST00000642611.2:n.2364_2377delinsGAGAGGCCCCGTGG
ENST00000682051.1:n.2311_2324delinsGAGAGGCCCCGTGG
ENST00000682110.1:n.2364_2377delinsGAGAGGCCCCGTGG
ENST00000682140.1:c.2292_2305delinsGAGAGGCCCCGTGG ENSP00000507829.1:p.Lys764=
ENST00000682185.1:n.3600_3613delinsGAGAGGCCCCGTGG
ENST00000682204.1:c.*433_*446delinsGAGAGGCCCCGTGG ENSP00000507094.1:n.*433_*446delinsGAGAGGCCCCGTGG
ENST00000682215.1:n.2361_2374delinsGAGAGGCCCCGTGG
ENST00000682288.1:c.*726_*739delinsGAGAGGCCCCGTGG ENSP00000507506.1:n.*726_*739delinsGAGAGGCCCCGTGG
ENST00000682442.1:n.2485_2498delinsGAGAGGCCCCGTGG
ENST00000682528.1:n.2361_2374delinsGAGAGGCCCCGTGG
ENST00000682673.1:n.2308_2321delinsGAGAGGCCCCGTGG
ENST00000682805.1:n.2361_2374delinsGAGAGGCCCCGTGG
ENST00000682965.1:c.2292_2305delinsGAGAGGCCCCGTGG ENSP00000508229.1:p.Lys764=
ENST00000683093.1:n.2463_2476delinsGAGAGGCCCCGTGG
ENST00000683136.1:c.2292_2305delinsGAGAGGCCCCGTGG ENSP00000507768.1:p.Lys764=
ENST00000683153.1:n.2520_2533delinsGAGAGGCCCCGTGG
ENST00000683365.1:n.2466_2479delinsGAGAGGCCCCGTGG
ENST00000683377.1:n.2364_2377delinsGAGAGGCCCCGTGG
ENST00000683456.1:c.2295_2308delinsGAGAGGCCCCGTGG ENSP00000508318.1:p.Lys765=
ENST00000683522.1:n.2364_2377delinsGAGAGGCCCCGTGG
ENST00000683562.1:c.*464_*477delinsGAGAGGCCCCGTGG ENSP00000508265.1:n.*464_*477delinsGAGAGGCCCCGTGG
ENST00000683693.1:n.2361_2374delinsGAGAGGCCCCGTGG
ENST00000683725.1:c.2295_2308delinsGAGAGGCCCCGTGG ENSP00000507496.1:p.Lys765=
ENST00000684010.1:n.2364_2377delinsGAGAGGCCCCGTGG
ENST00000684157.1:n.2364_2377delinsGAGAGGCCCCGTGG
ENST00000684253.1:n.2267_2280delinsGAGAGGCCCCGTGG
ENST00000684288.1:c.*467_*480delinsGAGAGGCCCCGTGG ENSP00000507143.1:n.*467_*480delinsGAGAGGCCCCGTGG
ENST00000684313.1:n.1796_1809delinsGAGAGGCCCCGTGG
ENST00000684332.1:n.2437_2450delinsGAGAGGCCCCGTGG
ENST00000684371.1:n.2470_2483delinsGAGAGGCCCCGTGG
ENST00000684404.1:n.2361_2374delinsGAGAGGCCCCGTGG
ENST00000684442.1:n.2364_2377delinsGAGAGGCCCCGTGG
ENST00000684555.1:c.*507_*520delinsGAGAGGCCCCGTGG ENSP00000507705.1:n.*507_*520delinsGAGAGGCCCCGTGG
ENST00000684571.1:c.2136_2149delinsGAGAGGCCCCGTGG ENSP00000506935.1:p.Lys712=
ENST00000684593.1:c.*2000_*2013delinsGAGAGGCCCCGTGG ENSP00000507005.1:n.*2000_*2013delinsGAGAGGCCCCGTGG
ENST00000684711.1:c.*691_*704delinsGAGAGGCCCCGTGG ENSP00000506841.1:n.*691_*704delinsGAGAGGCCCCGTGG
ENST00000302539.9:c.2298_2311delinsGAGAGGCCCCGTGG ENSP00000303960.4:p.Lys766=
ENST00000389817.8:c.2295_2308delinsGAGAGGCCCCGTGG MANE Select ENSP00000374467.4:p.Lys765=
ENST00000642271.1:c.2292_2305delinsGAGAGGCCCCGTGG ENSP00000493749.1:p.Lys764=
ENST00000642579.1:c.379_392delinsGAGAGGCCCCGTGG
ENST00000642611.1:n.2249_2262delinsGAGAGGCCCCGTGG
ENST00000642902.1:c.2130_2143delinsGAGAGGCCCCGTGG
ENST00000643260.1:c.2295_2308delinsGAGAGGCCCCGTGG ENSP00000494450.1:p.Lys765=
ENST00000643562.1:c.*271_*284delinsGAGAGGCCCCGTGG ENSP00000496124.1:n.*271_*284delinsGAGAGGCCCCGTGG
ENST00000643925.1:c.235_248delinsGAGAGGCCCCGTGG
ENST00000644447.1:c.651_664delinsGAGAGGCCCCGTGG ENSP00000496282.1:p.Lys217=
ENST00000644472.1:c.*656_*669delinsGAGAGGCCCCGTGG ENSP00000495378.1:n.*656_*669delinsGAGAGGCCCCGTGG
ENST00000644484.1:c.*504_*517delinsGAGAGGCCCCGTGG ENSP00000493558.1:n.*504_*517delinsGAGAGGCCCCGTGG
ENST00000644542.1:c.*2000_*2013delinsGAGAGGCCCCGTGG ENSP00000495532.1:n.*2000_*2013delinsGAGAGGCCCCGTGG
ENST00000644675.1:c.*467_*480delinsGAGAGGCCCCGTGG ENSP00000494567.1:n.*467_*480delinsGAGAGGCCCCGTGG
ENST00000644757.1:c.*600_*613delinsGAGAGGCCCCGTGG ENSP00000495085.1:n.*600_*613delinsGAGAGGCCCCGTGG
ENST00000644772.1:c.2361_2374delinsGAGAGGCCCCGTGG ENSP00000494321.1:p.Lys787=
ENST00000645076.1:c.1547_1560delinsGAGAGGCCCCGTGG
ENST00000645744.1:c.*659_*672delinsGAGAGGCCCCGTGG ENSP00000494564.1:n.*659_*672delinsGAGAGGCCCCGTGG
ENST00000645760.1:c.2570_2583delinsGAGAGGCCCCGTGG
ENST00000645884.1:c.2295_2308delinsGAGAGGCCCCGTGG ENSP00000495516.1:p.Lys765=
ENST00000646003.1:c.*436_*449delinsGAGAGGCCCCGTGG ENSP00000495259.1:n.*436_*449delinsGAGAGGCCCCGTGG
ENST00000646207.1:c.*659_*672delinsGAGAGGCCCCGTGG ENSP00000495025.1:n.*659_*672delinsGAGAGGCCCCGTGG
ENST00000646276.1:c.*568_*581delinsGAGAGGCCCCGTGG ENSP00000496070.1:n.*568_*581delinsGAGAGGCCCCGTGG
ENST00000646592.1:c.1521_1534delinsGAGAGGCCCCGTGG
ENST00000646902.1:c.2292_2305delinsGAGAGGCCCCGTGG ENSP00000494101.1:p.Lys764=
ENST00000646993.1:c.*691_*704delinsGAGAGGCCCCGTGG ENSP00000493720.1:n.*691_*704delinsGAGAGGCCCCGTGG
ENST00000647013.1:c.2301_2314delinsGAGAGGCCCCGTGG ENSP00000496741.1:n.2301_2314delinsGAGAGGCCCCGTGG
ENST00000647015.1:c.2046_2059delinsGAGAGGCCCCGTGG ENSP00000495389.1:p.Lys682=
ENST00000647086.1:c.*2025_*2038delinsGAGAGGCCCCGTGG ENSP00000493677.1:n.*2025_*2038delinsGAGAGGCCCCGTGG
ENST00000647158.1:c.*436_*449delinsGAGAGGCCCCGTGG ENSP00000495744.1:n.*436_*449delinsGAGAGGCCCCGTGG
ENST00000302539.8:c.2298_2311delinsGAGAGGCCCCGTGG ENSP00000303960.4:p.Lys766=
ENST00000389817.7:c.2295_2308delinsGAGAGGCCCCGTGG ENSP00000374467.3:p.Lys765=
ENST00000527905.5:c.2265_2278delinsGAGAGGCCCCGTGG ENSP00000431653.1:p.Lys755=
ENST00000531911.1:n.409_422delinsGAGAGGCCCCGTGG
NM_000352.4:c.2295_2308delinsGAGAGGCCCCGTGG NP_000343.2:p.Lys765=
NM_001287174.1:c.2298_2311delinsGAGAGGCCCCGTGG NP_001274103.1:p.Lys766=
XM_011520331.1:c.2295_2308delinsGAGAGGCCCCGTGG XP_011518633.1:p.Lys765=
XM_011520332.1:c.2298_2311delinsGAGAGGCCCCGTGG XP_011518634.1:p.Lys766=
XM_011520333.1:c.795_808delinsGAGAGGCCCCGTGG XP_011518635.1:p.Lys265=
XM_011520334.1:c.2298_2311delinsGAGAGGCCCCGTGG XP_011518636.1:p.Lys766=
XR_930890.1:n.2361_2374delinsGAGAGGCCCCGTGG
XR_930891.1:n.2361_2374delinsGAGAGGCCCCGTGG
XR_930892.1:n.2361_2374delinsGAGAGGCCCCGTGG
XR_930893.1:n.2358_2371delinsGAGAGGCCCCGTGG
NM_001351295.1:c.2361_2374delinsGAGAGGCCCCGTGG NP_001338224.1:p.Lys787=
NM_001351296.1:c.2295_2308delinsGAGAGGCCCCGTGG NP_001338225.1:p.Lys765=
NM_001351297.1:c.2292_2305delinsGAGAGGCCCCGTGG NP_001338226.1:p.Lys764=
NR_147094.1:n.2364_2377delinsGAGAGGCCCCGTGG
XM_017018197.2:c.2364_2377delinsGAGAGGCCCCGTGG XP_016873686.1:p.Lys788=
XM_017018199.1:c.2361_2374delinsGAGAGGCCCCGTGG XP_016873688.1:p.Lys787=
XM_017018201.2:c.2364_2377delinsGAGAGGCCCCGTGG XP_016873690.1:p.Lys788=
XM_017018202.1:c.861_874delinsGAGAGGCCCCGTGG XP_016873691.1:p.Lys287=
XM_017018204.1:c.252_265delinsGAGAGGCCCCGTGG XP_016873693.1:p.Lys84=
XM_024448668.1:c.663_676delinsGAGAGGCCCCGTGG XP_024304436.1:p.Lys221=
XR_001747945.2:n.2436_2449delinsGAGAGGCCCCGTGG
XR_001747946.2:n.2367_2380delinsGAGAGGCCCCGTGG
XR_002957189.1:n.2436_2449delinsGAGAGGCCCCGTGG
NM_000352.6:c.2295_2308delinsGAGAGGCCCCGTGG MANE Select NP_000343.2:p.Lys765=
NM_001287174.2:c.2298_2311delinsGAGAGGCCCCGTGG NP_001274103.1:p.Lys766=
NM_001351295.2:c.2361_2374delinsGAGAGGCCCCGTGG NP_001338224.1:p.Lys787=
NM_001351296.2:c.2295_2308delinsGAGAGGCCCCGTGG NP_001338225.1:p.Lys765=
NM_001351297.2:c.2292_2305delinsGAGAGGCCCCGTGG NP_001338226.1:p.Lys764=
NR_147094.2:n.2364_2377delinsGAGAGGCCCCGTGG
NM_001287174.3:c.2298_2311delinsGAGAGGCCCCGTGG NP_001274103.1:p.Lys766=