Canonical Allele Identifier: CA1955129275
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17408419_17408421delinsCAT , CM000673.2:g.17408419_17408421delinsCAT GRCh38
NC_000011.9:g.17429966_17429968delinsCAT , CM000673.1:g.17429966_17429968delinsCAT GRCh37
NC_000011.8:g.17386542_17386544delinsCAT NCBI36
NG_008867.1:g.73482_73484delinsATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2460_2462delinsATG
ENST00000529967.6:n.1050_1052delinsATG
ENST00000532220.2:n.523_525delinsATG
ENST00000642611.2:n.2860_2862delinsATG
ENST00000682051.1:n.2807_2809delinsATG
ENST00000682110.1:n.2860_2862delinsATG
ENST00000682140.1:c.2788_2790delinsATG ENSP00000507829.1:p.Met930=
ENST00000682185.1:n.4096_4098delinsATG
ENST00000682204.1:c.*929_*931delinsATG ENSP00000507094.1:n.*929_*931delinsATG
ENST00000682215.1:n.2857_2859delinsATG
ENST00000682288.1:c.*1222_*1224delinsATG ENSP00000507506.1:n.*1222_*1224delinsATG
ENST00000682442.1:n.2981_2983delinsATG
ENST00000682528.1:n.2857_2859delinsATG
ENST00000682673.1:n.2804_2806delinsATG
ENST00000682805.1:n.2857_2859delinsATG
ENST00000682965.1:c.2788_2790delinsATG ENSP00000508229.1:p.Met930=
ENST00000683093.1:n.2959_2961delinsATG
ENST00000683136.1:c.2788_2790delinsATG ENSP00000507768.1:p.Met930=
ENST00000683153.1:n.3016_3018delinsATG
ENST00000683365.1:n.2962_2964delinsATG
ENST00000683377.1:n.2860_2862delinsATG
ENST00000683456.1:c.2791_2793delinsATG ENSP00000508318.1:p.Met931=
ENST00000683522.1:n.2860_2862delinsATG
ENST00000683562.1:c.*960_*962delinsATG ENSP00000508265.1:n.*960_*962delinsATG
ENST00000683693.1:n.2857_2859delinsATG
ENST00000683725.1:c.2791_2793delinsATG ENSP00000507496.1:p.Met931=
ENST00000684010.1:n.2775_2777delinsATG
ENST00000684157.1:n.2860_2862delinsATG
ENST00000684253.1:n.2763_2765delinsATG
ENST00000684288.1:c.*963_*965delinsATG ENSP00000507143.1:n.*963_*965delinsATG
ENST00000684313.1:n.2292_2294delinsATG
ENST00000684332.1:n.2933_2935delinsATG
ENST00000684371.1:n.2966_2968delinsATG
ENST00000684404.1:n.2857_2859delinsATG
ENST00000684442.1:n.2860_2862delinsATG
ENST00000684555.1:c.*1003_*1005delinsATG ENSP00000507705.1:n.*1003_*1005delinsATG
ENST00000684571.1:c.2632_2634delinsATG ENSP00000506935.1:p.Met878=
ENST00000684593.1:c.*2496_*2498delinsATG ENSP00000507005.1:n.*2496_*2498delinsATG
ENST00000684711.1:c.*1187_*1189delinsATG ENSP00000506841.1:n.*1187_*1189delinsATG
ENST00000302539.9:c.2794_2796delinsATG ENSP00000303960.4:p.Met932=
ENST00000389817.8:c.2791_2793delinsATG MANE Select ENSP00000374467.4:p.Met931=
ENST00000642271.1:c.2788_2790delinsATG ENSP00000493749.1:p.Met930=
ENST00000642579.1:c.875_877delinsATG
ENST00000642611.1:n.2745_2747delinsATG
ENST00000642902.1:c.2626_2628delinsATG
ENST00000643260.1:c.2791_2793delinsATG ENSP00000494450.1:p.Met931=
ENST00000643562.1:c.*767_*769delinsATG ENSP00000496124.1:n.*767_*769delinsATG
ENST00000643925.1:c.835_837delinsATG
ENST00000644447.1:c.1147_1149delinsATG ENSP00000496282.1:p.Met383=
ENST00000644484.1:c.*1000_*1002delinsATG ENSP00000493558.1:n.*1000_*1002delinsATG
ENST00000644542.1:c.*2496_*2498delinsATG ENSP00000495532.1:n.*2496_*2498delinsATG
ENST00000644675.1:c.*963_*965delinsATG ENSP00000494567.1:n.*963_*965delinsATG
ENST00000644757.1:c.*1096_*1098delinsATG ENSP00000495085.1:n.*1096_*1098delinsATG
ENST00000644772.1:c.2857_2859delinsATG ENSP00000494321.1:p.Met953=
ENST00000645076.1:c.2043_2045delinsATG
ENST00000645744.1:c.*1155_*1157delinsATG ENSP00000494564.1:n.*1155_*1157delinsATG
ENST00000645760.1:c.3066_3068delinsATG
ENST00000645884.1:c.2791_2793delinsATG ENSP00000495516.1:p.Met931=
ENST00000646003.1:c.*847_*849delinsATG ENSP00000495259.1:n.*847_*849delinsATG
ENST00000646207.1:c.*1155_*1157delinsATG ENSP00000495025.1:n.*1155_*1157delinsATG
ENST00000646276.1:c.*1064_*1066delinsATG ENSP00000496070.1:n.*1064_*1066delinsATG
ENST00000646592.1:c.2017_2019delinsATG
ENST00000646902.1:c.2788_2790delinsATG ENSP00000494101.1:p.Met930=
ENST00000646993.1:c.*1187_*1189delinsATG ENSP00000493720.1:n.*1187_*1189delinsATG
ENST00000647013.1:c.2797_2799delinsATG ENSP00000496741.1:n.2797_2799delinsATG
ENST00000647015.1:c.2542_2544delinsATG ENSP00000495389.1:p.Met848=
ENST00000647086.1:c.*2521_*2523delinsATG ENSP00000493677.1:n.*2521_*2523delinsATG
ENST00000647158.1:c.*932_*934delinsATG ENSP00000495744.1:n.*932_*934delinsATG
ENST00000302539.8:c.2794_2796delinsATG ENSP00000303960.4:p.Met932=
ENST00000389817.7:c.2791_2793delinsATG ENSP00000374467.3:p.Met931=
ENST00000526921.5:n.475_477delinsATG
ENST00000527905.5:c.2761_2763delinsATG ENSP00000431653.1:p.Met921=
ENST00000529967.5:n.460_462delinsATG
NM_000352.4:c.2791_2793delinsATG NP_000343.2:p.Met931=
NM_001287174.1:c.2794_2796delinsATG NP_001274103.1:p.Met932=
XM_011520331.1:c.2791_2793delinsATG XP_011518633.1:p.Met931=
XM_011520332.1:c.2794_2796delinsATG XP_011518634.1:p.Met932=
XM_011520333.1:c.1291_1293delinsATG XP_011518635.1:p.Met431=
XM_011520334.1:c.2794_2796delinsATG XP_011518636.1:p.Met932=
XR_930890.1:n.2857_2859delinsATG
XR_930891.1:n.2857_2859delinsATG
XR_930892.1:n.2857_2859delinsATG
XR_930893.1:n.2854_2856delinsATG
NM_001351295.1:c.2857_2859delinsATG NP_001338224.1:p.Met953=
NM_001351296.1:c.2791_2793delinsATG NP_001338225.1:p.Met931=
NM_001351297.1:c.2788_2790delinsATG NP_001338226.1:p.Met930=
NR_147094.1:n.2860_2862delinsATG
XM_017018197.2:c.2860_2862delinsATG XP_016873686.1:p.Met954=
XM_017018199.1:c.2857_2859delinsATG XP_016873688.1:p.Met953=
XM_017018201.2:c.2860_2862delinsATG XP_016873690.1:p.Met954=
XM_017018202.1:c.1357_1359delinsATG XP_016873691.1:p.Met453=
XM_017018204.1:c.748_750delinsATG XP_016873693.1:p.Met250=
XM_024448668.1:c.1159_1161delinsATG XP_024304436.1:p.Met387=
XR_001747945.2:n.2932_2934delinsATG
XR_001747946.2:n.2863_2865delinsATG
XR_002957189.1:n.2932_2934delinsATG
NM_000352.6:c.2791_2793delinsATG MANE Select NP_000343.2:p.Met931=
NM_001287174.2:c.2794_2796delinsATG NP_001274103.1:p.Met932=
NM_001351295.2:c.2857_2859delinsATG NP_001338224.1:p.Met953=
NM_001351296.2:c.2791_2793delinsATG NP_001338225.1:p.Met931=
NM_001351297.2:c.2788_2790delinsATG NP_001338226.1:p.Met930=
NR_147094.2:n.2860_2862delinsATG
NM_001287174.3:c.2794_2796delinsATG NP_001274103.1:p.Met932=