Canonical Allele Identifier: CA3003294328
Community Standard Title: NM_000352.6(ABCC8):c.4112del (p.Gly1371AspfsTer?)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396924del , CM000673.2:g.17396924del GRCh38
NC_000011.9:g.17418471del , CM000673.1:g.17418471del GRCh37
NC_000011.8:g.17375047del NCBI36
NG_008867.1:g.84980del

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4112del MANE Select NP_000343.2:p.Gly1371AspfsTer?
ENST00000389817.8:c.4112del MANE Select ENSP00000374467.4:p.Gly1371AspfsTer?
NM_000352.4:c.4112del NP_000343.2:p.Gly1371AspfsTer?
NM_001287174.1:c.4115del NP_001274103.1:p.Gly1372AspfsTer?
NM_001287174.2:c.4115del NP_001274103.1:p.Gly1372AspfsTer?
NM_001287174.3:c.4115del NP_001274103.1:p.Gly1372AspfsTer?
NM_001351295.1:c.4178del NP_001338224.1:p.Gly1393AspfsTer?
NM_001351295.2:c.4178del NP_001338224.1:p.Gly1393AspfsTer?
NM_001351296.1:c.4112del NP_001338225.1:p.Gly1371AspfsTer?
NM_001351296.2:c.4112del NP_001338225.1:p.Gly1371AspfsTer?
NM_001351297.1:c.4109del NP_001338226.1:p.Gly1370AspfsTer?
NM_001351297.2:c.4109del NP_001338226.1:p.Gly1370AspfsTer?
NR_147094.1:n.4407del
NR_147094.2:n.4407del
ENST00000302539.8:c.4115del ENSP00000303960.4:p.Gly1372AspfsTer?
ENST00000302539.9:c.4115del ENSP00000303960.4:p.Gly1372AspfsTer?
ENST00000389817.7:c.4112del ENSP00000374467.3:p.Gly1371AspfsTer?
ENST00000524561.2:n.3713del
ENST00000527905.5:c.*1134del ENSP00000431653.1:n.*1134del
ENST00000528374.1:c.594del
ENST00000528374.2:c.703del
ENST00000529967.6:n.2451del
ENST00000532220.1:n.586del
ENST00000532220.2:n.2360del
ENST00000642271.1:c.4109del ENSP00000493749.1:p.Gly1370AspfsTer?
ENST00000642579.1:c.2166del
ENST00000642611.1:n.4212del
ENST00000642611.2:n.4327del
ENST00000642902.1:c.3894del
ENST00000643260.1:c.4112del ENSP00000494450.1:p.Gly1371AspfsTer?
ENST00000643562.1:c.*2234del ENSP00000496124.1:n.*2234del
ENST00000643925.1:c.2752del
ENST00000644057.1:n.189del
ENST00000644057.2:n.555del
ENST00000644484.1:c.*2513del ENSP00000493558.1:n.*2513del
ENST00000644675.1:c.*2284del ENSP00000494567.1:n.*2284del
ENST00000644757.1:c.*2543del ENSP00000495085.1:n.*2543del
ENST00000644772.1:c.4178del ENSP00000494321.1:p.Gly1393AspfsTer?
ENST00000645004.1:n.1767del
ENST00000645004.2:n.1611del
ENST00000645076.1:c.3311del
ENST00000645417.1:c.1300del
ENST00000645744.1:c.*2892del ENSP00000494564.1:n.*2892del
ENST00000645760.1:c.4533del
ENST00000645884.1:c.*1395del ENSP00000495516.1:n.*1395del
ENST00000646003.1:c.*2214del ENSP00000495259.1:n.*2214del
ENST00000646207.1:c.*2949del ENSP00000495025.1:n.*2949del
ENST00000646276.1:c.*2531del ENSP00000496070.1:n.*2531del
ENST00000646592.1:c.3418del
ENST00000646902.1:c.4079del ENSP00000494101.1:p.Gly1360AspfsTer?
ENST00000646993.1:c.*2654del ENSP00000493720.1:n.*2654del
ENST00000647013.1:c.4118del ENSP00000496741.1:n.4118del
ENST00000647015.1:c.3863del ENSP00000495389.1:p.Gly1288AspfsTer?
ENST00000647086.1:c.*3698del ENSP00000493677.1:n.*3698del
ENST00000647158.1:c.*2399del ENSP00000495744.1:n.*2399del
ENST00000682051.1:n.4274del
ENST00000682110.1:n.4327del
ENST00000682140.1:c.3985+270del ENSP00000507829.1:n.3985+270del
ENST00000682185.1:n.5417del
ENST00000682204.1:c.*2250del ENSP00000507094.1:n.*2250del
ENST00000682215.1:n.4694del
ENST00000682288.1:c.*2543del ENSP00000507506.1:n.*2543del
ENST00000682442.1:n.4547del
ENST00000682528.1:n.4404del
ENST00000682673.1:n.4271del
ENST00000682805.1:n.4694del
ENST00000682965.1:c.*534del ENSP00000508229.1:n.*534del
ENST00000683093.1:n.4426del
ENST00000683136.1:c.3995del ENSP00000507768.1:p.Gly1332AspfsTer?
ENST00000683153.1:n.4369del
ENST00000683365.1:n.4429del
ENST00000683377.1:n.4327del
ENST00000683456.1:c.*1249del ENSP00000508318.1:n.*1249del
ENST00000683522.1:n.4327del
ENST00000683562.1:c.*2281del ENSP00000508265.1:n.*2281del
ENST00000683693.1:n.4774del
ENST00000683725.1:c.4112del ENSP00000507496.1:p.Gly1371AspfsTer?
ENST00000684010.1:n.4322del
ENST00000684157.1:n.4327del
ENST00000684253.1:n.4230del
ENST00000684288.1:c.*2284del ENSP00000507143.1:n.*2284del
ENST00000684313.1:n.3759del
ENST00000684332.1:n.4400del
ENST00000684371.1:n.4433del
ENST00000684404.1:n.4370del
ENST00000684442.1:n.4551del
ENST00000684555.1:c.*2324del ENSP00000507705.1:n.*2324del
ENST00000684571.1:c.3953del ENSP00000506935.1:p.Gly1318AspfsTer?
ENST00000684593.1:c.*3817del ENSP00000507005.1:n.*3817del
ENST00000684711.1:c.*2508del ENSP00000506841.1:n.*2508del
XM_011520331.1:c.4112del XP_011518633.1:p.Gly1371AspfsTer?
XM_011520332.1:c.4115del XP_011518634.1:p.Gly1372AspfsTer?
XM_011520333.1:c.2612del XP_011518635.1:p.Gly871AspfsTer?
XM_017018197.2:c.4181del XP_016873686.1:p.Gly1394AspfsTer?
XM_017018199.1:c.4178del XP_016873688.1:p.Gly1393AspfsTer?
XM_017018201.2:c.4181del XP_016873690.1:p.Gly1394AspfsTer?
XM_017018202.1:c.2678del XP_016873691.1:p.Gly893AspfsTer?
XM_017018204.1:c.2069del XP_016873693.1:p.Gly690AspfsTer?
XM_024448668.1:c.2480del XP_024304436.1:p.Gly827AspfsTer?
XR_001747945.2:n.4253del
XR_001747946.2:n.4184del
XR_002957189.1:n.4849del
XR_930890.1:n.4178del