Canonical Allele Identifier: CA2841180410
Community Standard Title: NM_000352.6(ABCC8):c.4118dup (p.Ile1374AspfsTer?)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396918dup , CM000673.2:g.17396918dup GRCh38
NC_000011.9:g.17418465dup , CM000673.1:g.17418465dup GRCh37
NC_000011.8:g.17375041dup NCBI36
NG_008867.1:g.84986dup

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4118dup MANE Select NP_000343.2:p.Ile1374AspfsTer?
ENST00000389817.8:c.4118dup MANE Select ENSP00000374467.4:p.Ile1374AspfsTer?
NM_000352.4:c.4118dup NP_000343.2:p.Ile1374AspfsTer?
NM_001287174.1:c.4121dup NP_001274103.1:p.Ile1375AspfsTer?
NM_001287174.2:c.4121dup NP_001274103.1:p.Ile1375AspfsTer?
NM_001287174.3:c.4121dup NP_001274103.1:p.Ile1375AspfsTer?
NM_001351295.1:c.4184dup NP_001338224.1:p.Ile1396AspfsTer?
NM_001351295.2:c.4184dup NP_001338224.1:p.Ile1396AspfsTer?
NM_001351296.1:c.4118dup NP_001338225.1:p.Ile1374AspfsTer?
NM_001351296.2:c.4118dup NP_001338225.1:p.Ile1374AspfsTer?
NM_001351297.1:c.4115dup NP_001338226.1:p.Ile1373AspfsTer?
NM_001351297.2:c.4115dup NP_001338226.1:p.Ile1373AspfsTer?
NR_147094.1:n.4413dup
NR_147094.2:n.4413dup
ENST00000302539.8:c.4121dup ENSP00000303960.4:p.Ile1375AspfsTer?
ENST00000302539.9:c.4121dup ENSP00000303960.4:p.Ile1375AspfsTer?
ENST00000389817.7:c.4118dup ENSP00000374467.3:p.Ile1374AspfsTer?
ENST00000524561.2:n.3719dup
ENST00000527905.5:c.*1140dup ENSP00000431653.1:n.*1140dup
ENST00000528374.1:c.600dup
ENST00000528374.2:c.709dup
ENST00000529967.6:n.2457dup
ENST00000532220.1:n.592dup
ENST00000532220.2:n.2366dup
ENST00000642271.1:c.4115dup ENSP00000493749.1:p.Ile1373AspfsTer?
ENST00000642579.1:c.2172dup
ENST00000642611.1:n.4218dup
ENST00000642611.2:n.4333dup
ENST00000642902.1:c.3900dup
ENST00000643260.1:c.4118dup ENSP00000494450.1:p.Ile1374AspfsTer?
ENST00000643562.1:c.*2240dup ENSP00000496124.1:n.*2240dup
ENST00000643925.1:c.2758dup
ENST00000644057.1:n.195dup
ENST00000644057.2:n.561dup
ENST00000644484.1:c.*2519dup ENSP00000493558.1:n.*2519dup
ENST00000644675.1:c.*2290dup ENSP00000494567.1:n.*2290dup
ENST00000644757.1:c.*2549dup ENSP00000495085.1:n.*2549dup
ENST00000644772.1:c.4184dup ENSP00000494321.1:p.Ile1396AspfsTer?
ENST00000645004.1:n.1773dup
ENST00000645004.2:n.1617dup
ENST00000645076.1:c.3317dup
ENST00000645417.1:c.1306dup
ENST00000645744.1:c.*2898dup ENSP00000494564.1:n.*2898dup
ENST00000645760.1:c.4539dup
ENST00000645884.1:c.*1401dup ENSP00000495516.1:n.*1401dup
ENST00000646003.1:c.*2220dup ENSP00000495259.1:n.*2220dup
ENST00000646207.1:c.*2955dup ENSP00000495025.1:n.*2955dup
ENST00000646276.1:c.*2537dup ENSP00000496070.1:n.*2537dup
ENST00000646592.1:c.3424dup
ENST00000646902.1:c.4085dup ENSP00000494101.1:p.Ile1363AspfsTer?
ENST00000646993.1:c.*2660dup ENSP00000493720.1:n.*2660dup
ENST00000647013.1:c.4124dup ENSP00000496741.1:n.4124dup
ENST00000647015.1:c.3869dup ENSP00000495389.1:p.Ile1291AspfsTer?
ENST00000647086.1:c.*3704dup ENSP00000493677.1:n.*3704dup
ENST00000647158.1:c.*2405dup ENSP00000495744.1:n.*2405dup
ENST00000682051.1:n.4280dup
ENST00000682110.1:n.4333dup
ENST00000682140.1:c.3985+276dup ENSP00000507829.1:n.3985+276dup
ENST00000682185.1:n.5423dup
ENST00000682204.1:c.*2256dup ENSP00000507094.1:n.*2256dup
ENST00000682215.1:n.4700dup
ENST00000682288.1:c.*2549dup ENSP00000507506.1:n.*2549dup
ENST00000682442.1:n.4553dup
ENST00000682528.1:n.4410dup
ENST00000682673.1:n.4277dup
ENST00000682805.1:n.4700dup
ENST00000682965.1:c.*540dup ENSP00000508229.1:n.*540dup
ENST00000683093.1:n.4432dup
ENST00000683136.1:c.4001dup ENSP00000507768.1:p.Ile1335AspfsTer?
ENST00000683153.1:n.4375dup
ENST00000683365.1:n.4435dup
ENST00000683377.1:n.4333dup
ENST00000683456.1:c.*1255dup ENSP00000508318.1:n.*1255dup
ENST00000683522.1:n.4333dup
ENST00000683562.1:c.*2287dup ENSP00000508265.1:n.*2287dup
ENST00000683693.1:n.4780dup
ENST00000683725.1:c.4118dup ENSP00000507496.1:p.Ile1374AspfsTer?
ENST00000684010.1:n.4328dup
ENST00000684157.1:n.4333dup
ENST00000684253.1:n.4236dup
ENST00000684288.1:c.*2290dup ENSP00000507143.1:n.*2290dup
ENST00000684313.1:n.3765dup
ENST00000684332.1:n.4406dup
ENST00000684371.1:n.4439dup
ENST00000684404.1:n.4376dup
ENST00000684442.1:n.4557dup
ENST00000684555.1:c.*2330dup ENSP00000507705.1:n.*2330dup
ENST00000684571.1:c.3959dup ENSP00000506935.1:p.Ile1321AspfsTer?
ENST00000684593.1:c.*3823dup ENSP00000507005.1:n.*3823dup
ENST00000684711.1:c.*2514dup ENSP00000506841.1:n.*2514dup
XM_011520331.1:c.4118dup XP_011518633.1:p.Ile1374AspfsTer?
XM_011520332.1:c.4121dup XP_011518634.1:p.Ile1375AspfsTer?
XM_011520333.1:c.2618dup XP_011518635.1:p.Ile874AspfsTer?
XM_017018197.2:c.4187dup XP_016873686.1:p.Ile1397AspfsTer?
XM_017018199.1:c.4184dup XP_016873688.1:p.Ile1396AspfsTer?
XM_017018201.2:c.4187dup XP_016873690.1:p.Ile1397AspfsTer?
XM_017018202.1:c.2684dup XP_016873691.1:p.Ile896AspfsTer?
XM_017018204.1:c.2075dup XP_016873693.1:p.Ile693AspfsTer?
XM_024448668.1:c.2486dup XP_024304436.1:p.Ile830AspfsTer?
XR_001747945.2:n.4259dup
XR_001747946.2:n.4190dup
XR_002957189.1:n.4855dup
XR_930890.1:n.4184dup