Canonical Allele Identifier: CA3003294318
Community Standard Title: NM_000352.6(ABCC8):c.4118del (p.Lys1373ArgfsTer?)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4118del MANE Select NP_000343.2:p.Lys1373ArgfsTer?
ENST00000389817.8:c.4118del MANE Select ENSP00000374467.4:p.Lys1373ArgfsTer?
NM_000352.4:c.4118del NP_000343.2:p.Lys1373ArgfsTer?
NM_001287174.1:c.4121del NP_001274103.1:p.Lys1374ArgfsTer?
NM_001287174.2:c.4121del NP_001274103.1:p.Lys1374ArgfsTer?
NM_001287174.3:c.4121del NP_001274103.1:p.Lys1374ArgfsTer?
NM_001351295.1:c.4184del NP_001338224.1:p.Lys1395ArgfsTer?
NM_001351295.2:c.4184del NP_001338224.1:p.Lys1395ArgfsTer?
NM_001351296.1:c.4118del NP_001338225.1:p.Lys1373ArgfsTer?
NM_001351296.2:c.4118del NP_001338225.1:p.Lys1373ArgfsTer?
NM_001351297.1:c.4115del NP_001338226.1:p.Lys1372ArgfsTer?
NM_001351297.2:c.4115del NP_001338226.1:p.Lys1372ArgfsTer?
NR_147094.1:n.4413del
NR_147094.2:n.4413del
ENST00000302539.8:c.4121del ENSP00000303960.4:p.Lys1374ArgfsTer?
ENST00000302539.9:c.4121del ENSP00000303960.4:p.Lys1374ArgfsTer?
ENST00000389817.7:c.4118del ENSP00000374467.3:p.Lys1373ArgfsTer?
ENST00000524561.2:n.3719del
ENST00000527905.5:c.*1140del ENSP00000431653.1:n.*1140del
ENST00000528374.1:c.600del
ENST00000528374.2:c.709del
ENST00000529967.6:n.2457del
ENST00000532220.1:n.592del
ENST00000532220.2:n.2366del
ENST00000642271.1:c.4115del ENSP00000493749.1:p.Lys1372ArgfsTer?
ENST00000642579.1:c.2172del
ENST00000642611.1:n.4218del
ENST00000642611.2:n.4333del
ENST00000642902.1:c.3900del
ENST00000643260.1:c.4118del ENSP00000494450.1:p.Lys1373ArgfsTer?
ENST00000643562.1:c.*2240del ENSP00000496124.1:n.*2240del
ENST00000643925.1:c.2758del
ENST00000644057.1:n.195del
ENST00000644057.2:n.561del
ENST00000644484.1:c.*2519del ENSP00000493558.1:n.*2519del
ENST00000644675.1:c.*2290del ENSP00000494567.1:n.*2290del
ENST00000644757.1:c.*2549del ENSP00000495085.1:n.*2549del
ENST00000644772.1:c.4184del ENSP00000494321.1:p.Lys1395ArgfsTer?
ENST00000645004.1:n.1773del
ENST00000645004.2:n.1617del
ENST00000645076.1:c.3317del
ENST00000645417.1:c.1306del
ENST00000645744.1:c.*2898del ENSP00000494564.1:n.*2898del
ENST00000645760.1:c.4539del
ENST00000645884.1:c.*1401del ENSP00000495516.1:n.*1401del
ENST00000646003.1:c.*2220del ENSP00000495259.1:n.*2220del
ENST00000646207.1:c.*2955del ENSP00000495025.1:n.*2955del
ENST00000646276.1:c.*2537del ENSP00000496070.1:n.*2537del
ENST00000646592.1:c.3424del
ENST00000646902.1:c.4085del ENSP00000494101.1:p.Lys1362ArgfsTer?
ENST00000646993.1:c.*2660del ENSP00000493720.1:n.*2660del
ENST00000647013.1:c.4124del ENSP00000496741.1:n.4124del
ENST00000647015.1:c.3869del ENSP00000495389.1:p.Lys1290ArgfsTer?
ENST00000647086.1:c.*3704del ENSP00000493677.1:n.*3704del
ENST00000647158.1:c.*2405del ENSP00000495744.1:n.*2405del
ENST00000682051.1:n.4280del
ENST00000682110.1:n.4333del
ENST00000682140.1:c.3985+276del ENSP00000507829.1:n.3985+276del
ENST00000682185.1:n.5423del
ENST00000682204.1:c.*2256del ENSP00000507094.1:n.*2256del
ENST00000682215.1:n.4700del
ENST00000682288.1:c.*2549del ENSP00000507506.1:n.*2549del
ENST00000682442.1:n.4553del
ENST00000682528.1:n.4410del
ENST00000682673.1:n.4277del
ENST00000682805.1:n.4700del
ENST00000682965.1:c.*540del ENSP00000508229.1:n.*540del
ENST00000683093.1:n.4432del
ENST00000683136.1:c.4001del ENSP00000507768.1:p.Lys1334ArgfsTer?
ENST00000683153.1:n.4375del
ENST00000683365.1:n.4435del
ENST00000683377.1:n.4333del
ENST00000683456.1:c.*1255del ENSP00000508318.1:n.*1255del
ENST00000683522.1:n.4333del
ENST00000683562.1:c.*2287del ENSP00000508265.1:n.*2287del
ENST00000683693.1:n.4780del
ENST00000683725.1:c.4118del ENSP00000507496.1:p.Lys1373ArgfsTer?
ENST00000684010.1:n.4328del
ENST00000684157.1:n.4333del
ENST00000684253.1:n.4236del
ENST00000684288.1:c.*2290del ENSP00000507143.1:n.*2290del
ENST00000684313.1:n.3765del
ENST00000684332.1:n.4406del
ENST00000684371.1:n.4439del
ENST00000684404.1:n.4376del
ENST00000684442.1:n.4557del
ENST00000684555.1:c.*2330del ENSP00000507705.1:n.*2330del
ENST00000684571.1:c.3959del ENSP00000506935.1:p.Lys1320ArgfsTer?
ENST00000684593.1:c.*3823del ENSP00000507005.1:n.*3823del
ENST00000684711.1:c.*2514del ENSP00000506841.1:n.*2514del
XM_011520331.1:c.4118del XP_011518633.1:p.Lys1373ArgfsTer?
XM_011520332.1:c.4121del XP_011518634.1:p.Lys1374ArgfsTer?
XM_011520333.1:c.2618del XP_011518635.1:p.Lys873ArgfsTer?
XM_017018197.2:c.4187del XP_016873686.1:p.Lys1396ArgfsTer?
XM_017018199.1:c.4184del XP_016873688.1:p.Lys1395ArgfsTer?
XM_017018201.2:c.4187del XP_016873690.1:p.Lys1396ArgfsTer?
XM_017018202.1:c.2684del XP_016873691.1:p.Lys895ArgfsTer?
XM_017018204.1:c.2075del XP_016873693.1:p.Lys692ArgfsTer?
XM_024448668.1:c.2486del XP_024304436.1:p.Lys829ArgfsTer?
XR_001747945.2:n.4259del
XR_001747946.2:n.4190del
XR_002957189.1:n.4855del
XR_930890.1:n.4184del