Canonical Allele Identifier: CA1955122344
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393821_17393822delinsTG , CM000673.2:g.17393821_17393822delinsTG GRCh38
NC_000011.9:g.17415368_17415369delinsTG , CM000673.1:g.17415368_17415369delinsTG GRCh37
NC_000011.8:g.17371944_17371945delinsTG NCBI36
NG_008867.1:g.88081_88082delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4147-63_4147-62delinsCA
ENST00000526037.6:n.481-63_481-62delinsCA
ENST00000528374.2:c.1137-63_1137-62delinsCA
ENST00000529967.6:n.2885-63_2885-62delinsCA
ENST00000532220.2:n.3779-63_3779-62delinsCA
ENST00000642611.2:n.5879-63_5879-62delinsCA
ENST00000644057.2:n.1122-63_1122-62delinsCA
ENST00000645004.2:n.2045-63_2045-62delinsCA
ENST00000682051.1:n.4708-63_4708-62delinsCA
ENST00000682110.1:n.4761-63_4761-62delinsCA
ENST00000682140.1:c.*332-63_*332-62delinsCA ENSP00000507829.1:n.*332-63_*332-62delinsCA
ENST00000682185.1:n.5851-63_5851-62delinsCA
ENST00000682204.1:c.*2684-63_*2684-62delinsCA ENSP00000507094.1:n.*2684-63_*2684-62delinsCA
ENST00000682215.1:n.5128-63_5128-62delinsCA
ENST00000682288.1:c.*2977-63_*2977-62delinsCA ENSP00000507506.1:n.*2977-63_*2977-62delinsCA
ENST00000682442.1:n.4981-63_4981-62delinsCA
ENST00000682528.1:n.4838-63_4838-62delinsCA
ENST00000682673.1:n.4705-63_4705-62delinsCA
ENST00000682805.1:n.5166-63_5166-62delinsCA
ENST00000682965.1:c.*968-63_*968-62delinsCA ENSP00000508229.1:n.*968-63_*968-62delinsCA
ENST00000683093.1:n.5741-63_5741-62delinsCA
ENST00000683136.1:c.4429-63_4429-62delinsCA ENSP00000507768.1:n.4429-63_4429-62delinsCA
ENST00000683153.1:n.4803-63_4803-62delinsCA
ENST00000683365.1:n.4863-63_4863-62delinsCA
ENST00000683377.1:n.4657-63_4657-62delinsCA
ENST00000683456.1:c.*1683-63_*1683-62delinsCA ENSP00000508318.1:n.*1683-63_*1683-62delinsCA
ENST00000683522.1:n.4843-63_4843-62delinsCA
ENST00000683562.1:c.*2611-63_*2611-62delinsCA ENSP00000508265.1:n.*2611-63_*2611-62delinsCA
ENST00000683693.1:n.6222-63_6222-62delinsCA
ENST00000683725.1:c.*11-63_*11-62delinsCA ENSP00000507496.1:n.*11-63_*11-62delinsCA
ENST00000684010.1:n.4756-63_4756-62delinsCA
ENST00000684014.1:n.733-63_733-62delinsCA
ENST00000684157.1:n.5746-63_5746-62delinsCA
ENST00000684253.1:n.4664-63_4664-62delinsCA
ENST00000684288.1:c.*2718-63_*2718-62delinsCA ENSP00000507143.1:n.*2718-63_*2718-62delinsCA
ENST00000684313.1:n.4193-63_4193-62delinsCA
ENST00000684332.1:n.4834-63_4834-62delinsCA
ENST00000684371.1:n.4867-63_4867-62delinsCA
ENST00000684404.1:n.5789-63_5789-62delinsCA
ENST00000684442.1:n.4985-63_4985-62delinsCA
ENST00000684555.1:c.*2758-63_*2758-62delinsCA ENSP00000507705.1:n.*2758-63_*2758-62delinsCA
ENST00000684571.1:c.4387-63_4387-62delinsCA ENSP00000506935.1:n.4387-63_4387-62delinsCA
ENST00000684593.1:c.*4251-63_*4251-62delinsCA ENSP00000507005.1:n.*4251-63_*4251-62delinsCA
ENST00000684711.1:c.*2942-63_*2942-62delinsCA ENSP00000506841.1:n.*2942-63_*2942-62delinsCA
ENST00000302539.9:c.4549-63_4549-62delinsCA ENSP00000303960.4:n.4549-63_4549-62delinsCA
ENST00000389817.8:c.4546-63_4546-62delinsCA MANE Select ENSP00000374467.4:n.4546-63_4546-62delinsCA
ENST00000642271.1:c.4543-63_4543-62delinsCA ENSP00000493749.1:n.4543-63_4543-62delinsCA
ENST00000642579.1:c.2600-63_2600-62delinsCA
ENST00000642611.1:n.5764-63_5764-62delinsCA
ENST00000642902.1:c.4328-63_4328-62delinsCA
ENST00000643260.1:c.4546-63_4546-62delinsCA ENSP00000494450.1:n.4546-63_4546-62delinsCA
ENST00000643562.1:c.*2668-63_*2668-62delinsCA ENSP00000496124.1:n.*2668-63_*2668-62delinsCA
ENST00000643925.1:c.3185+444_3185+445delinsCA
ENST00000644057.1:n.705-63_705-62delinsCA
ENST00000644484.1:c.*3932-63_*3932-62delinsCA ENSP00000493558.1:n.*3932-63_*3932-62delinsCA
ENST00000644675.1:c.*2718-63_*2718-62delinsCA ENSP00000494567.1:n.*2718-63_*2718-62delinsCA
ENST00000644757.1:c.*3203-842_*3203-841delinsCA ENSP00000495085.1:n.*3203-842_*3203-841delinsCA
ENST00000644772.1:c.4612-63_4612-62delinsCA ENSP00000494321.1:n.4612-63_4612-62delinsCA
ENST00000645004.1:n.2239-63_2239-62delinsCA
ENST00000645076.1:c.3641-63_3641-62delinsCA
ENST00000645417.1:c.1734-63_1734-62delinsCA
ENST00000645744.1:c.*4231-63_*4231-62delinsCA ENSP00000494564.1:n.*4231-63_*4231-62delinsCA
ENST00000645760.1:c.4967-63_4967-62delinsCA
ENST00000645884.1:c.*1829-63_*1829-62delinsCA ENSP00000495516.1:n.*1829-63_*1829-62delinsCA
ENST00000646003.1:c.*2568-63_*2568-62delinsCA ENSP00000495259.1:n.*2568-63_*2568-62delinsCA
ENST00000646207.1:c.*3383-63_*3383-62delinsCA ENSP00000495025.1:n.*3383-63_*3383-62delinsCA
ENST00000646276.1:c.*3950-63_*3950-62delinsCA ENSP00000496070.1:n.*3950-63_*3950-62delinsCA
ENST00000646592.1:c.3852-63_3852-62delinsCA
ENST00000646902.1:c.4513-63_4513-62delinsCA ENSP00000494101.1:n.4513-63_4513-62delinsCA
ENST00000646993.1:c.*2984-63_*2984-62delinsCA ENSP00000493720.1:n.*2984-63_*2984-62delinsCA
ENST00000647015.1:c.4297-63_4297-62delinsCA ENSP00000495389.1:n.4297-63_4297-62delinsCA
ENST00000647086.1:c.*4132-63_*4132-62delinsCA ENSP00000493677.1:n.*4132-63_*4132-62delinsCA
ENST00000647158.1:c.*2833-63_*2833-62delinsCA ENSP00000495744.1:n.*2833-63_*2833-62delinsCA
ENST00000302539.8:c.4549-63_4549-62delinsCA ENSP00000303960.4:n.4549-63_4549-62delinsCA
ENST00000389817.7:c.4546-63_4546-62delinsCA ENSP00000374467.3:n.4546-63_4546-62delinsCA
ENST00000525022.1:n.441-63_441-62delinsCA
ENST00000526037.5:n.306-63_306-62delinsCA
ENST00000526168.5:c.334-63_334-62delinsCA
ENST00000531642.5:c.577-63_577-62delinsCA
NM_000352.4:c.4546-63_4546-62delinsCA NP_000343.2:n.4546-63_4546-62delinsCA
NM_001287174.1:c.4549-63_4549-62delinsCA NP_001274103.1:n.4549-63_4549-62delinsCA
XM_011520331.1:c.4546-63_4546-62delinsCA XP_011518633.1:n.4546-63_4546-62delinsCA
XM_011520333.1:c.3046-63_3046-62delinsCA XP_011518635.1:n.3046-63_3046-62delinsCA
XR_930890.1:n.4508-63_4508-62delinsCA
NM_001351295.1:c.4612-63_4612-62delinsCA NP_001338224.1:n.4612-63_4612-62delinsCA
NM_001351296.1:c.4546-63_4546-62delinsCA NP_001338225.1:n.4546-63_4546-62delinsCA
NM_001351297.1:c.4543-63_4543-62delinsCA NP_001338226.1:n.4543-63_4543-62delinsCA
NR_147094.1:n.4841-63_4841-62delinsCA
XM_017018197.2:c.4615-63_4615-62delinsCA XP_016873686.1:n.4615-63_4615-62delinsCA
XM_017018199.1:c.4612-63_4612-62delinsCA XP_016873688.1:n.4612-63_4612-62delinsCA
XM_017018202.1:c.3112-63_3112-62delinsCA XP_016873691.1:n.3112-63_3112-62delinsCA
XM_017018204.1:c.2503-63_2503-62delinsCA XP_016873693.1:n.2503-63_2503-62delinsCA
XM_024448668.1:c.2914-63_2914-62delinsCA XP_024304436.1:n.2914-63_2914-62delinsCA
XR_001747945.2:n.4583-63_4583-62delinsCA
XR_001747946.2:n.4514-63_4514-62delinsCA
XR_002957189.1:n.6297-63_6297-62delinsCA
NM_000352.6:c.4546-63_4546-62delinsCA MANE Select NP_000343.2:n.4546-63_4546-62delinsCA
NM_001287174.2:c.4549-63_4549-62delinsCA NP_001274103.1:n.4549-63_4549-62delinsCA
NM_001351295.2:c.4612-63_4612-62delinsCA NP_001338224.1:n.4612-63_4612-62delinsCA
NM_001351296.2:c.4546-63_4546-62delinsCA NP_001338225.1:n.4546-63_4546-62delinsCA
NM_001351297.2:c.4543-63_4543-62delinsCA NP_001338226.1:n.4543-63_4543-62delinsCA
NR_147094.2:n.4841-63_4841-62delinsCA
NM_001287174.3:c.4549-63_4549-62delinsCA NP_001274103.1:n.4549-63_4549-62delinsCA