Canonical Allele Identifier: CA1955154001
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1957153083

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17460610del , CM000673.2:g.17460610del GRCh38
NC_000011.9:g.17482157del , CM000673.1:g.17482157del GRCh37
NC_000011.8:g.17438733del NCBI36
NG_008867.1:g.21293del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.648+2828del
ENST00000526002.2:n.902del
ENST00000528202.6:n.955del
ENST00000642611.2:n.955del
ENST00000682051.1:n.902del
ENST00000682091.1:n.1864del
ENST00000682110.1:n.955del
ENST00000682140.1:c.886del ENSP00000507829.1:p.Arg296GlyfsTer?
ENST00000682199.1:n.955del
ENST00000682204.1:c.886del ENSP00000507094.1:p.Arg296GlyfsTer?
ENST00000682215.1:n.955del
ENST00000682288.1:c.886del ENSP00000507506.1:p.Arg296GlyfsTer?
ENST00000682442.1:n.989del
ENST00000682528.1:n.955del
ENST00000682673.1:n.902del
ENST00000682805.1:n.955del
ENST00000682863.1:n.955del
ENST00000682965.1:c.886del ENSP00000508229.1:p.Arg296GlyfsTer?
ENST00000683093.1:n.955del
ENST00000683136.1:c.886del ENSP00000507768.1:p.Arg296GlyfsTer?
ENST00000683153.1:n.955del
ENST00000683253.1:n.1869del
ENST00000683365.1:n.955del
ENST00000683377.1:n.955del
ENST00000683456.1:c.886del ENSP00000508318.1:p.Arg296GlyfsTer?
ENST00000683522.1:n.955del
ENST00000683531.1:n.958del
ENST00000683562.1:c.889del ENSP00000508265.1:p.Arg297GlyfsTer?
ENST00000683693.1:n.955del
ENST00000683725.1:c.889del ENSP00000507496.1:p.Arg297GlyfsTer?
ENST00000683808.1:n.225del
ENST00000684010.1:n.955del
ENST00000684157.1:n.955del
ENST00000684221.1:n.1725del
ENST00000684253.1:n.1007del
ENST00000684288.1:c.889del ENSP00000507143.1:p.Arg297GlyfsTer?
ENST00000684313.1:n.982del
ENST00000684332.1:n.955del
ENST00000684371.1:n.902del
ENST00000684404.1:n.955del
ENST00000684442.1:n.955del
ENST00000684555.1:c.889del ENSP00000507705.1:p.Arg297GlyfsTer?
ENST00000684571.1:c.886del ENSP00000506935.1:p.Arg296GlyfsTer?
ENST00000684593.1:c.*594del ENSP00000507005.1:n.*594del
ENST00000684711.1:c.886del ENSP00000506841.1:p.Arg296GlyfsTer?
ENST00000302539.9:c.889del ENSP00000303960.4:p.Arg297GlyfsTer?
ENST00000389817.8:c.889del MANE Select ENSP00000374467.4:p.Arg297GlyfsTer?
ENST00000532728.6:c.765del
ENST00000635881.1:n.917del
ENST00000642271.1:c.886del ENSP00000493749.1:p.Arg296GlyfsTer?
ENST00000642611.1:n.840del
ENST00000642902.1:c.870del
ENST00000643260.1:c.886del ENSP00000494450.1:p.Arg296GlyfsTer?
ENST00000643562.1:c.889del ENSP00000496124.1:p.Arg297GlyfsTer?
ENST00000644472.1:c.886del ENSP00000495378.1:p.Arg296GlyfsTer?
ENST00000644484.1:c.886del ENSP00000493558.1:p.Arg296GlyfsTer?
ENST00000644542.1:c.*591del ENSP00000495532.1:n.*591del
ENST00000644675.1:c.886del ENSP00000494567.1:p.Arg296GlyfsTer?
ENST00000644757.1:c.889del ENSP00000495085.1:p.Arg297GlyfsTer?
ENST00000644772.1:c.889del ENSP00000494321.1:p.Arg297GlyfsTer?
ENST00000645076.1:c.171del
ENST00000645744.1:c.886del ENSP00000494564.1:p.Arg296GlyfsTer?
ENST00000645760.1:c.1062del
ENST00000645884.1:c.886del ENSP00000495516.1:p.Arg296GlyfsTer?
ENST00000646003.1:c.886del ENSP00000495259.1:p.Arg296GlyfsTer?
ENST00000646207.1:c.886del ENSP00000495025.1:p.Arg296GlyfsTer?
ENST00000646276.1:c.865del ENSP00000496070.1:p.Arg289GlyfsTer?
ENST00000646592.1:c.140del
ENST00000646737.1:c.*983del ENSP00000494874.1:n.*983del
ENST00000646902.1:c.886del ENSP00000494101.1:p.Arg296GlyfsTer?
ENST00000646993.1:c.889del ENSP00000493720.1:p.Arg297GlyfsTer?
ENST00000647013.1:c.787del ENSP00000496741.1:p.Arg263GlyfsTer?
ENST00000647015.1:c.889del ENSP00000495389.1:p.Arg297GlyfsTer?
ENST00000647086.1:c.886del ENSP00000493677.1:p.Arg296GlyfsTer?
ENST00000647158.1:c.886del ENSP00000495744.1:p.Arg296GlyfsTer?
ENST00000302539.8:c.889del ENSP00000303960.4:p.Arg297GlyfsTer?
ENST00000389817.7:c.889del ENSP00000374467.3:p.Arg297GlyfsTer?
ENST00000527905.5:c.889del ENSP00000431653.1:p.Arg297GlyfsTer?
ENST00000532728.5:n.920del
NM_000352.4:c.889del NP_000343.2:p.Arg297GlyfsTer?
NM_001287174.1:c.889del NP_001274103.1:p.Arg297GlyfsTer?
XM_011520331.1:c.886del XP_011518633.1:p.Arg296GlyfsTer?
XM_011520332.1:c.889del XP_011518634.1:p.Arg297GlyfsTer?
XM_011520334.1:c.889del XP_011518636.1:p.Arg297GlyfsTer?
XR_930890.1:n.952del
XR_930891.1:n.952del
XR_930892.1:n.952del
XR_930893.1:n.952del
NM_001351295.1:c.889del NP_001338224.1:p.Arg297GlyfsTer?
NM_001351296.1:c.886del NP_001338225.1:p.Arg296GlyfsTer?
NM_001351297.1:c.886del NP_001338226.1:p.Arg296GlyfsTer?
NR_147094.1:n.955del
XM_017018197.2:c.889del XP_016873686.1:p.Arg297GlyfsTer?
XM_017018199.1:c.886del XP_016873688.1:p.Arg296GlyfsTer?
XM_017018201.2:c.889del XP_016873690.1:p.Arg297GlyfsTer?
XM_017018202.1:c.-629del XP_016873691.1:n.-629del
XM_024448668.1:c.-849del XP_024304436.1:n.-849del
XR_001747945.2:n.961del
XR_001747946.2:n.961del
XR_002957189.1:n.961del
NM_000352.6:c.889del MANE Select NP_000343.2:p.Arg297GlyfsTer?
NM_001287174.2:c.889del NP_001274103.1:p.Arg297GlyfsTer?
NM_001351295.2:c.889del NP_001338224.1:p.Arg297GlyfsTer?
NM_001351296.2:c.886del NP_001338225.1:p.Arg296GlyfsTer?
NM_001351297.2:c.886del NP_001338226.1:p.Arg296GlyfsTer?
NR_147094.2:n.955del
NM_001287174.3:c.889del NP_001274103.1:p.Arg297GlyfsTer?