Canonical Allele Identifier: CA2950852754
Community Standard Title: NM_000352.6(ABCC8):c.4016del (p.Pro1339GlnfsTer11)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397020del , CM000673.2:g.17397020del GRCh38
NC_000011.9:g.17418567del , CM000673.1:g.17418567del GRCh37
NC_000011.8:g.17375143del NCBI36
NG_008867.1:g.84884del

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4016del MANE Select NP_000343.2:p.Pro1339GlnfsTer11
ENST00000389817.8:c.4016del MANE Select ENSP00000374467.4:p.Pro1339GlnfsTer11
NM_000352.4:c.4016del NP_000343.2:p.Pro1339GlnfsTer11
NM_001287174.1:c.4019del NP_001274103.1:p.Pro1340GlnfsTer11
NM_001287174.2:c.4019del NP_001274103.1:p.Pro1340GlnfsTer11
NM_001287174.3:c.4019del NP_001274103.1:p.Pro1340GlnfsTer11
NM_001351295.1:c.4082del NP_001338224.1:p.Pro1361GlnfsTer11
NM_001351295.2:c.4082del NP_001338224.1:p.Pro1361GlnfsTer11
NM_001351296.1:c.4016del NP_001338225.1:p.Pro1339GlnfsTer11
NM_001351296.2:c.4016del NP_001338225.1:p.Pro1339GlnfsTer11
NM_001351297.1:c.4013del NP_001338226.1:p.Pro1338GlnfsTer11
NM_001351297.2:c.4013del NP_001338226.1:p.Pro1338GlnfsTer11
NR_147094.1:n.4311del
NR_147094.2:n.4311del
ENST00000302539.8:c.4019del ENSP00000303960.4:p.Pro1340GlnfsTer11
ENST00000302539.9:c.4019del ENSP00000303960.4:p.Pro1340GlnfsTer11
ENST00000389817.7:c.4016del ENSP00000374467.3:p.Pro1339GlnfsTer11
ENST00000524561.2:n.3617del
ENST00000527905.5:c.*1038del ENSP00000431653.1:n.*1038del
ENST00000528374.1:c.498del
ENST00000528374.2:c.607del
ENST00000529967.6:n.2355del
ENST00000531137.1:n.581del
ENST00000531891.1:c.357-3del
ENST00000532220.1:n.490del
ENST00000532220.2:n.2264del
ENST00000642271.1:c.4013del ENSP00000493749.1:p.Pro1338GlnfsTer11
ENST00000642579.1:c.2073-3del
ENST00000642611.1:n.4116del
ENST00000642611.2:n.4231del
ENST00000642902.1:c.3798del
ENST00000643260.1:c.4016del ENSP00000494450.1:p.Pro1339GlnfsTer11
ENST00000643562.1:c.*2138del ENSP00000496124.1:n.*2138del
ENST00000643925.1:c.2656del
ENST00000644057.1:n.93del
ENST00000644057.2:n.459del
ENST00000644484.1:c.*2417del ENSP00000493558.1:n.*2417del
ENST00000644675.1:c.*2188del ENSP00000494567.1:n.*2188del
ENST00000644757.1:c.*2447del ENSP00000495085.1:n.*2447del
ENST00000644772.1:c.4082del ENSP00000494321.1:p.Pro1361GlnfsTer11
ENST00000645004.1:n.1671del
ENST00000645004.2:n.1515del
ENST00000645076.1:c.3215del
ENST00000645417.1:c.1204del
ENST00000645744.1:c.*2796del ENSP00000494564.1:n.*2796del
ENST00000645760.1:c.4437del
ENST00000645884.1:c.*1299del ENSP00000495516.1:n.*1299del
ENST00000646003.1:c.*2118del ENSP00000495259.1:n.*2118del
ENST00000646207.1:c.*2853del ENSP00000495025.1:n.*2853del
ENST00000646276.1:c.*2435del ENSP00000496070.1:n.*2435del
ENST00000646592.1:c.3322del
ENST00000646902.1:c.3986-3del ENSP00000494101.1:n.3986-3del
ENST00000646993.1:c.*2558del ENSP00000493720.1:n.*2558del
ENST00000647013.1:c.4022del ENSP00000496741.1:n.4022del
ENST00000647015.1:c.3767del ENSP00000495389.1:p.Pro1256GlnfsTer11
ENST00000647086.1:c.*3605-3del ENSP00000493677.1:n.*3605-3del
ENST00000647158.1:c.*2303del ENSP00000495744.1:n.*2303del
ENST00000682051.1:n.4178del
ENST00000682110.1:n.4231del
ENST00000682140.1:c.3985+174del ENSP00000507829.1:n.3985+174del
ENST00000682185.1:n.5321del
ENST00000682204.1:c.*2154del ENSP00000507094.1:n.*2154del
ENST00000682215.1:n.4598del
ENST00000682288.1:c.*2447del ENSP00000507506.1:n.*2447del
ENST00000682442.1:n.4451del
ENST00000682528.1:n.4308del
ENST00000682673.1:n.4175del
ENST00000682805.1:n.4598del
ENST00000682965.1:c.*438del ENSP00000508229.1:n.*438del
ENST00000683093.1:n.4330del
ENST00000683136.1:c.3899del ENSP00000507768.1:p.Pro1300GlnfsTer11
ENST00000683153.1:n.4273del
ENST00000683365.1:n.4333del
ENST00000683377.1:n.4231del
ENST00000683456.1:c.*1153del ENSP00000508318.1:n.*1153del
ENST00000683522.1:n.4231del
ENST00000683562.1:c.*2185del ENSP00000508265.1:n.*2185del
ENST00000683693.1:n.4678del
ENST00000683725.1:c.4016del ENSP00000507496.1:p.Pro1339GlnfsTer11
ENST00000684010.1:n.4226del
ENST00000684157.1:n.4231del
ENST00000684253.1:n.4134del
ENST00000684288.1:c.*2188del ENSP00000507143.1:n.*2188del
ENST00000684313.1:n.3663del
ENST00000684332.1:n.4304del
ENST00000684371.1:n.4337del
ENST00000684404.1:n.4274del
ENST00000684442.1:n.4455del
ENST00000684555.1:c.*2228del ENSP00000507705.1:n.*2228del
ENST00000684571.1:c.3857del ENSP00000506935.1:p.Pro1286GlnfsTer11
ENST00000684593.1:c.*3721del ENSP00000507005.1:n.*3721del
ENST00000684711.1:c.*2412del ENSP00000506841.1:n.*2412del
XM_011520331.1:c.4016del XP_011518633.1:p.Pro1339GlnfsTer11
XM_011520332.1:c.4019del XP_011518634.1:p.Pro1340GlnfsTer11
XM_011520333.1:c.2516del XP_011518635.1:p.Pro839GlnfsTer11
XM_017018197.2:c.4085del XP_016873686.1:p.Pro1362GlnfsTer11
XM_017018199.1:c.4082del XP_016873688.1:p.Pro1361GlnfsTer11
XM_017018201.2:c.4085del XP_016873690.1:p.Pro1362GlnfsTer11
XM_017018202.1:c.2582del XP_016873691.1:p.Pro861GlnfsTer11
XM_017018204.1:c.1973del XP_016873693.1:p.Pro658GlnfsTer11
XM_024448668.1:c.2384del XP_024304436.1:p.Pro795GlnfsTer11
XR_001747945.2:n.4157del
XR_001747946.2:n.4088del
XR_002957189.1:n.4753del
XR_930890.1:n.4082del