Canonical Allele Identifier: CA1955154105
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17460842_17460843delinsAG , CM000673.2:g.17460842_17460843delinsAG GRCh38
NC_000011.9:g.17482389_17482390delinsAG , CM000673.1:g.17482389_17482390delinsAG GRCh37
NC_000011.8:g.17438965_17438966delinsAG NCBI36
NG_008867.1:g.21060_21061delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.648+2595_648+2596delinsCT
ENST00000526002.2:n.836-167_836-166delinsCT
ENST00000528202.6:n.889-167_889-166delinsCT
ENST00000642611.2:n.889-167_889-166delinsCT
ENST00000682051.1:n.836-167_836-166delinsCT
ENST00000682091.1:n.1631_1632delinsCT
ENST00000682110.1:n.889-167_889-166delinsCT
ENST00000682140.1:c.820-167_820-166delinsCT ENSP00000507829.1:n.820-167_820-166delinsCT
ENST00000682199.1:n.889-167_889-166delinsCT
ENST00000682204.1:c.820-167_820-166delinsCT ENSP00000507094.1:n.820-167_820-166delinsCT
ENST00000682215.1:n.889-167_889-166delinsCT
ENST00000682288.1:c.820-167_820-166delinsCT ENSP00000507506.1:n.820-167_820-166delinsCT
ENST00000682442.1:n.923-167_923-166delinsCT
ENST00000682528.1:n.889-167_889-166delinsCT
ENST00000682673.1:n.836-167_836-166delinsCT
ENST00000682805.1:n.889-167_889-166delinsCT
ENST00000682863.1:n.889-167_889-166delinsCT
ENST00000682965.1:c.820-167_820-166delinsCT ENSP00000508229.1:n.820-167_820-166delinsCT
ENST00000683093.1:n.889-167_889-166delinsCT
ENST00000683136.1:c.820-167_820-166delinsCT ENSP00000507768.1:n.820-167_820-166delinsCT
ENST00000683153.1:n.889-167_889-166delinsCT
ENST00000683253.1:n.1636_1637delinsCT
ENST00000683365.1:n.889-167_889-166delinsCT
ENST00000683377.1:n.889-167_889-166delinsCT
ENST00000683456.1:c.820-167_820-166delinsCT ENSP00000508318.1:n.820-167_820-166delinsCT
ENST00000683522.1:n.889-167_889-166delinsCT
ENST00000683531.1:n.892-167_892-166delinsCT
ENST00000683562.1:c.823-167_823-166delinsCT ENSP00000508265.1:n.823-167_823-166delinsCT
ENST00000683693.1:n.889-167_889-166delinsCT
ENST00000683725.1:c.823-167_823-166delinsCT ENSP00000507496.1:n.823-167_823-166delinsCT
ENST00000684010.1:n.889-167_889-166delinsCT
ENST00000684157.1:n.889-167_889-166delinsCT
ENST00000684221.1:n.1492_1493delinsCT
ENST00000684253.1:n.941-167_941-166delinsCT
ENST00000684288.1:c.823-167_823-166delinsCT ENSP00000507143.1:n.823-167_823-166delinsCT
ENST00000684313.1:n.916-167_916-166delinsCT
ENST00000684332.1:n.889-167_889-166delinsCT
ENST00000684371.1:n.836-167_836-166delinsCT
ENST00000684404.1:n.889-167_889-166delinsCT
ENST00000684442.1:n.889-167_889-166delinsCT
ENST00000684555.1:c.823-167_823-166delinsCT ENSP00000507705.1:n.823-167_823-166delinsCT
ENST00000684571.1:c.820-167_820-166delinsCT ENSP00000506935.1:n.820-167_820-166delinsCT
ENST00000684593.1:c.*528-167_*528-166delinsCT ENSP00000507005.1:n.*528-167_*528-166delinsCT
ENST00000684711.1:c.820-167_820-166delinsCT ENSP00000506841.1:n.820-167_820-166delinsCT
ENST00000302539.9:c.823-167_823-166delinsCT ENSP00000303960.4:n.823-167_823-166delinsCT
ENST00000389817.8:c.823-167_823-166delinsCT MANE Select ENSP00000374467.4:n.823-167_823-166delinsCT
ENST00000532728.6:c.699-167_699-166delinsCT
ENST00000635881.1:n.851-167_851-166delinsCT
ENST00000642271.1:c.820-167_820-166delinsCT ENSP00000493749.1:n.820-167_820-166delinsCT
ENST00000642611.1:n.774-167_774-166delinsCT
ENST00000642902.1:c.804-167_804-166delinsCT
ENST00000643260.1:c.820-167_820-166delinsCT ENSP00000494450.1:n.820-167_820-166delinsCT
ENST00000643562.1:c.823-167_823-166delinsCT ENSP00000496124.1:n.823-167_823-166delinsCT
ENST00000644472.1:c.820-167_820-166delinsCT ENSP00000495378.1:n.820-167_820-166delinsCT
ENST00000644484.1:c.820-167_820-166delinsCT ENSP00000493558.1:n.820-167_820-166delinsCT
ENST00000644542.1:c.*525-167_*525-166delinsCT ENSP00000495532.1:n.*525-167_*525-166delinsCT
ENST00000644675.1:c.820-167_820-166delinsCT ENSP00000494567.1:n.820-167_820-166delinsCT
ENST00000644757.1:c.823-167_823-166delinsCT ENSP00000495085.1:n.823-167_823-166delinsCT
ENST00000644772.1:c.823-167_823-166delinsCT ENSP00000494321.1:n.823-167_823-166delinsCT
ENST00000645076.1:c.105-167_105-166delinsCT
ENST00000645744.1:c.820-167_820-166delinsCT ENSP00000494564.1:n.820-167_820-166delinsCT
ENST00000645760.1:c.996-167_996-166delinsCT
ENST00000645884.1:c.820-167_820-166delinsCT ENSP00000495516.1:n.820-167_820-166delinsCT
ENST00000646003.1:c.820-167_820-166delinsCT ENSP00000495259.1:n.820-167_820-166delinsCT
ENST00000646207.1:c.820-167_820-166delinsCT ENSP00000495025.1:n.820-167_820-166delinsCT
ENST00000646276.1:c.799-167_799-166delinsCT ENSP00000496070.1:n.799-167_799-166delinsCT
ENST00000646592.1:c.74-167_74-166delinsCT
ENST00000646737.1:c.*750_*751delinsCT ENSP00000494874.1:n.*750_*751delinsCT
ENST00000646902.1:c.820-167_820-166delinsCT ENSP00000494101.1:n.820-167_820-166delinsCT
ENST00000646993.1:c.823-167_823-166delinsCT ENSP00000493720.1:n.823-167_823-166delinsCT
ENST00000647013.1:c.721-167_721-166delinsCT ENSP00000496741.1:n.721-167_721-166delinsCT
ENST00000647015.1:c.823-167_823-166delinsCT ENSP00000495389.1:n.823-167_823-166delinsCT
ENST00000647086.1:c.820-167_820-166delinsCT ENSP00000493677.1:n.820-167_820-166delinsCT
ENST00000647158.1:c.820-167_820-166delinsCT ENSP00000495744.1:n.820-167_820-166delinsCT
ENST00000302539.8:c.823-167_823-166delinsCT ENSP00000303960.4:n.823-167_823-166delinsCT
ENST00000389817.7:c.823-167_823-166delinsCT ENSP00000374467.3:n.823-167_823-166delinsCT
ENST00000527905.5:c.823-167_823-166delinsCT ENSP00000431653.1:n.823-167_823-166delinsCT
ENST00000532728.5:n.854-167_854-166delinsCT
NM_000352.4:c.823-167_823-166delinsCT NP_000343.2:n.823-167_823-166delinsCT
NM_001287174.1:c.823-167_823-166delinsCT NP_001274103.1:n.823-167_823-166delinsCT
XM_011520331.1:c.820-167_820-166delinsCT XP_011518633.1:n.820-167_820-166delinsCT
XM_011520332.1:c.823-167_823-166delinsCT XP_011518634.1:n.823-167_823-166delinsCT
XM_011520334.1:c.823-167_823-166delinsCT XP_011518636.1:n.823-167_823-166delinsCT
XR_930890.1:n.886-167_886-166delinsCT
XR_930891.1:n.886-167_886-166delinsCT
XR_930892.1:n.886-167_886-166delinsCT
XR_930893.1:n.886-167_886-166delinsCT
NM_001351295.1:c.823-167_823-166delinsCT NP_001338224.1:n.823-167_823-166delinsCT
NM_001351296.1:c.820-167_820-166delinsCT NP_001338225.1:n.820-167_820-166delinsCT
NM_001351297.1:c.820-167_820-166delinsCT NP_001338226.1:n.820-167_820-166delinsCT
NR_147094.1:n.889-167_889-166delinsCT
XM_017018197.2:c.823-167_823-166delinsCT XP_016873686.1:n.823-167_823-166delinsCT
XM_017018199.1:c.820-167_820-166delinsCT XP_016873688.1:n.820-167_820-166delinsCT
XM_017018201.2:c.823-167_823-166delinsCT XP_016873690.1:n.823-167_823-166delinsCT
XM_017018202.1:c.-695-167_-695-166delinsCT XP_016873691.1:n.-695-167_-695-166delinsCT
XM_024448668.1:c.-1082_-1081delinsCT XP_024304436.1:n.-1082_-1081delinsCT
XR_001747945.2:n.895-167_895-166delinsCT
XR_001747946.2:n.895-167_895-166delinsCT
XR_002957189.1:n.895-167_895-166delinsCT
NM_000352.6:c.823-167_823-166delinsCT MANE Select NP_000343.2:n.823-167_823-166delinsCT
NM_001287174.2:c.823-167_823-166delinsCT NP_001274103.1:n.823-167_823-166delinsCT
NM_001351295.2:c.823-167_823-166delinsCT NP_001338224.1:n.823-167_823-166delinsCT
NM_001351296.2:c.820-167_820-166delinsCT NP_001338225.1:n.820-167_820-166delinsCT
NM_001351297.2:c.820-167_820-166delinsCT NP_001338226.1:n.820-167_820-166delinsCT
NR_147094.2:n.889-167_889-166delinsCT
NM_001287174.3:c.823-167_823-166delinsCT NP_001274103.1:n.823-167_823-166delinsCT