Canonical Allele Identifier: CA1955129157
Gene: ABCC8 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17408156_17408163delinsCTAAATAG , CM000673.2:g.17408156_17408163delinsCTAAATAG GRCh38
NC_000011.9:g.17429703_17429710delinsCTAAATAG , CM000673.1:g.17429703_17429710delinsCTAAATAG GRCh37
NC_000011.8:g.17386279_17386286delinsCTAAATAG NCBI36
NG_008867.1:g.73740_73747delinsCTATTTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2489+229_2489+236delinsCTATTTAG
ENST00000529967.6:n.1079+229_1079+236delinsCTATTTAG
ENST00000532220.2:n.552+229_552+236delinsCTATTTAG
ENST00000642611.2:n.2889+229_2889+236delinsCTATTTAG
ENST00000682051.1:n.2836+229_2836+236delinsCTATTTAG
ENST00000682110.1:n.2889+229_2889+236delinsCTATTTAG
ENST00000682140.1:c.2817+229_2817+236delinsCTATTTAG ENSP00000507829.1:n.2817+229_2817+236delinsCTATTTAG
ENST00000682185.1:n.4125+229_4125+236delinsCTATTTAG
ENST00000682204.1:c.*958+229_*958+236delinsCTATTTAG ENSP00000507094.1:n.*958+229_*958+236delinsCTATTTAG
ENST00000682215.1:n.2886+229_2886+236delinsCTATTTAG
ENST00000682288.1:c.*1251+229_*1251+236delinsCTATTTAG ENSP00000507506.1:n.*1251+229_*1251+236delinsCTATTTAG
ENST00000682442.1:n.3010+229_3010+236delinsCTATTTAG
ENST00000682528.1:n.2886+229_2886+236delinsCTATTTAG
ENST00000682673.1:n.2833+229_2833+236delinsCTATTTAG
ENST00000682805.1:n.2886+229_2886+236delinsCTATTTAG
ENST00000682965.1:c.2817+229_2817+236delinsCTATTTAG ENSP00000508229.1:n.2817+229_2817+236delinsCTATTTAG
ENST00000683093.1:n.2988+229_2988+236delinsCTATTTAG
ENST00000683136.1:c.2817+229_2817+236delinsCTATTTAG ENSP00000507768.1:n.2817+229_2817+236delinsCTATTTAG
ENST00000683153.1:n.3045+229_3045+236delinsCTATTTAG
ENST00000683365.1:n.2991+229_2991+236delinsCTATTTAG
ENST00000683377.1:n.2889+229_2889+236delinsCTATTTAG
ENST00000683456.1:c.2820+229_2820+236delinsCTATTTAG ENSP00000508318.1:n.2820+229_2820+236delinsCTATTTAG
ENST00000683522.1:n.2889+229_2889+236delinsCTATTTAG
ENST00000683562.1:c.*989+229_*989+236delinsCTATTTAG ENSP00000508265.1:n.*989+229_*989+236delinsCTATTTAG
ENST00000683693.1:n.2886+229_2886+236delinsCTATTTAG
ENST00000683725.1:c.2820+229_2820+236delinsCTATTTAG ENSP00000507496.1:n.2820+229_2820+236delinsCTATTTAG
ENST00000684010.1:n.2804+229_2804+236delinsCTATTTAG
ENST00000684157.1:n.2889+229_2889+236delinsCTATTTAG
ENST00000684253.1:n.2792+229_2792+236delinsCTATTTAG
ENST00000684288.1:c.*992+229_*992+236delinsCTATTTAG ENSP00000507143.1:n.*992+229_*992+236delinsCTATTTAG
ENST00000684313.1:n.2321+229_2321+236delinsCTATTTAG
ENST00000684332.1:n.2962+229_2962+236delinsCTATTTAG
ENST00000684371.1:n.2995+229_2995+236delinsCTATTTAG
ENST00000684404.1:n.2886+229_2886+236delinsCTATTTAG
ENST00000684442.1:n.2889+229_2889+236delinsCTATTTAG
ENST00000684555.1:c.*1032+229_*1032+236delinsCTATTTAG ENSP00000507705.1:n.*1032+229_*1032+236delinsCTATTTAG
ENST00000684571.1:c.2661+229_2661+236delinsCTATTTAG ENSP00000506935.1:n.2661+229_2661+236delinsCTATTTAG
ENST00000684593.1:c.*2525+229_*2525+236delinsCTATTTAG ENSP00000507005.1:n.*2525+229_*2525+236delinsCTATTTAG
ENST00000684711.1:c.*1216+229_*1216+236delinsCTATTTAG ENSP00000506841.1:n.*1216+229_*1216+236delinsCTATTTAG
ENST00000302539.9:c.2823+229_2823+236delinsCTATTTAG ENSP00000303960.4:n.2823+229_2823+236delinsCTATTTAG
ENST00000389817.8:c.2820+229_2820+236delinsCTATTTAG MANE Select ENSP00000374467.4:n.2820+229_2820+236delinsCTATTTAG
ENST00000642271.1:c.2817+229_2817+236delinsCTATTTAG ENSP00000493749.1:n.2817+229_2817+236delinsCTATTTAG
ENST00000642579.1:c.904+229_904+236delinsCTATTTAG
ENST00000642611.1:n.2774+229_2774+236delinsCTATTTAG
ENST00000642902.1:c.2655+229_2655+236delinsCTATTTAG
ENST00000643260.1:c.2820+229_2820+236delinsCTATTTAG ENSP00000494450.1:n.2820+229_2820+236delinsCTATTTAG
ENST00000643562.1:c.*796+229_*796+236delinsCTATTTAG ENSP00000496124.1:n.*796+229_*796+236delinsCTATTTAG
ENST00000643925.1:c.864+229_864+236delinsCTATTTAG
ENST00000644447.1:c.1176+229_1176+236delinsCTATTTAG ENSP00000496282.1:n.1176+229_1176+236delinsCTATTTAG
ENST00000644484.1:c.*1029+229_*1029+236delinsCTATTTAG ENSP00000493558.1:n.*1029+229_*1029+236delinsCTATTTAG
ENST00000644542.1:c.*2525+229_*2525+236delinsCTATTTAG ENSP00000495532.1:n.*2525+229_*2525+236delinsCTATTTAG
ENST00000644675.1:c.*992+229_*992+236delinsCTATTTAG ENSP00000494567.1:n.*992+229_*992+236delinsCTATTTAG
ENST00000644757.1:c.*1125+229_*1125+236delinsCTATTTAG ENSP00000495085.1:n.*1125+229_*1125+236delinsCTATTTAG
ENST00000644772.1:c.2886+229_2886+236delinsCTATTTAG ENSP00000494321.1:n.2886+229_2886+236delinsCTATTTAG
ENST00000645076.1:c.2072+229_2072+236delinsCTATTTAG
ENST00000645744.1:c.*1184+229_*1184+236delinsCTATTTAG ENSP00000494564.1:n.*1184+229_*1184+236delinsCTATTTAG
ENST00000645760.1:c.3095+229_3095+236delinsCTATTTAG
ENST00000645884.1:c.2820+229_2820+236delinsCTATTTAG ENSP00000495516.1:n.2820+229_2820+236delinsCTATTTAG
ENST00000646003.1:c.*876+229_*876+236delinsCTATTTAG ENSP00000495259.1:n.*876+229_*876+236delinsCTATTTAG
ENST00000646207.1:c.*1287+37_*1287+44delinsCTATTTAG ENSP00000495025.1:n.*1287+37_*1287+44delinsCTATTTAG
ENST00000646276.1:c.*1093+229_*1093+236delinsCTATTTAG ENSP00000496070.1:n.*1093+229_*1093+236delinsCTATTTAG
ENST00000646592.1:c.2046+229_2046+236delinsCTATTTAG
ENST00000646902.1:c.2817+229_2817+236delinsCTATTTAG ENSP00000494101.1:n.2817+229_2817+236delinsCTATTTAG
ENST00000646993.1:c.*1216+229_*1216+236delinsCTATTTAG ENSP00000493720.1:n.*1216+229_*1216+236delinsCTATTTAG
ENST00000647013.1:c.2826+229_2826+236delinsCTATTTAG ENSP00000496741.1:n.2826+229_2826+236delinsCTATTTAG
ENST00000647015.1:c.2571+229_2571+236delinsCTATTTAG ENSP00000495389.1:n.2571+229_2571+236delinsCTATTTAG
ENST00000647086.1:c.*2550+229_*2550+236delinsCTATTTAG ENSP00000493677.1:n.*2550+229_*2550+236delinsCTATTTAG
ENST00000647158.1:c.*961+229_*961+236delinsCTATTTAG ENSP00000495744.1:n.*961+229_*961+236delinsCTATTTAG
ENST00000302539.8:c.2823+229_2823+236delinsCTATTTAG ENSP00000303960.4:n.2823+229_2823+236delinsCTATTTAG
ENST00000389817.7:c.2820+229_2820+236delinsCTATTTAG ENSP00000374467.3:n.2820+229_2820+236delinsCTATTTAG
ENST00000526921.5:n.504+229_504+236delinsCTATTTAG
ENST00000527905.5:c.2790+229_2790+236delinsCTATTTAG ENSP00000431653.1:n.2790+229_2790+236delinsCTATTTAG
ENST00000529967.5:n.489+229_489+236delinsCTATTTAG
NM_000352.4:c.2820+229_2820+236delinsCTATTTAG NP_000343.2:n.2820+229_2820+236delinsCTATTTAG
NM_001287174.1:c.2823+229_2823+236delinsCTATTTAG NP_001274103.1:n.2823+229_2823+236delinsCTATTTAG
XM_011520331.1:c.2820+229_2820+236delinsCTATTTAG XP_011518633.1:n.2820+229_2820+236delinsCTATTTAG
XM_011520332.1:c.2823+229_2823+236delinsCTATTTAG XP_011518634.1:n.2823+229_2823+236delinsCTATTTAG
XM_011520333.1:c.1320+229_1320+236delinsCTATTTAG XP_011518635.1:n.1320+229_1320+236delinsCTATTTAG
XM_011520334.1:c.2823+229_2823+236delinsCTATTTAG XP_011518636.1:n.2823+229_2823+236delinsCTATTTAG
XR_930890.1:n.2886+229_2886+236delinsCTATTTAG
XR_930891.1:n.2886+229_2886+236delinsCTATTTAG
XR_930892.1:n.2886+229_2886+236delinsCTATTTAG
XR_930893.1:n.2883+229_2883+236delinsCTATTTAG
NM_001351295.1:c.2886+229_2886+236delinsCTATTTAG NP_001338224.1:n.2886+229_2886+236delinsCTATTTAG
NM_001351296.1:c.2820+229_2820+236delinsCTATTTAG NP_001338225.1:n.2820+229_2820+236delinsCTATTTAG
NM_001351297.1:c.2817+229_2817+236delinsCTATTTAG NP_001338226.1:n.2817+229_2817+236delinsCTATTTAG
NR_147094.1:n.2889+229_2889+236delinsCTATTTAG
XM_017018197.2:c.2889+229_2889+236delinsCTATTTAG XP_016873686.1:n.2889+229_2889+236delinsCTATTTAG
XM_017018199.1:c.2886+229_2886+236delinsCTATTTAG XP_016873688.1:n.2886+229_2886+236delinsCTATTTAG
XM_017018201.2:c.2889+229_2889+236delinsCTATTTAG XP_016873690.1:n.2889+229_2889+236delinsCTATTTAG
XM_017018202.1:c.1386+229_1386+236delinsCTATTTAG XP_016873691.1:n.1386+229_1386+236delinsCTATTTAG
XM_017018204.1:c.777+229_777+236delinsCTATTTAG XP_016873693.1:n.777+229_777+236delinsCTATTTAG
XM_024448668.1:c.1188+229_1188+236delinsCTATTTAG XP_024304436.1:n.1188+229_1188+236delinsCTATTTAG
XR_001747945.2:n.2961+229_2961+236delinsCTATTTAG
XR_001747946.2:n.2892+229_2892+236delinsCTATTTAG
XR_002957189.1:n.2961+229_2961+236delinsCTATTTAG
NM_000352.6:c.2820+229_2820+236delinsCTATTTAG MANE Select NP_000343.2:n.2820+229_2820+236delinsCTATTTAG
NM_001287174.2:c.2823+229_2823+236delinsCTATTTAG NP_001274103.1:n.2823+229_2823+236delinsCTATTTAG
NM_001351295.2:c.2886+229_2886+236delinsCTATTTAG NP_001338224.1:n.2886+229_2886+236delinsCTATTTAG
NM_001351296.2:c.2820+229_2820+236delinsCTATTTAG NP_001338225.1:n.2820+229_2820+236delinsCTATTTAG
NM_001351297.2:c.2817+229_2817+236delinsCTATTTAG NP_001338226.1:n.2817+229_2817+236delinsCTATTTAG
NR_147094.2:n.2889+229_2889+236delinsCTATTTAG
NM_001287174.3:c.2823+229_2823+236delinsCTATTTAG NP_001274103.1:n.2823+229_2823+236delinsCTATTTAG
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