Canonical Allele Identifier: CA2612661813

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17406916-GGGGTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406926_17406931del , CM000673.2:g.17406926_17406931del	GRCh38
NC_000011.9:g.17428473_17428478del , CM000673.1:g.17428473_17428478del	GRCh37
NC_000011.8:g.17385049_17385054del	NCBI36
NG_008867.1:g.74981_74986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2697_2702del
ENST00000529967.6:n.1467_1472del
ENST00000532220.2:n.860_865del
ENST00000642611.2:n.3197_3202del
ENST00000645004.2:n.627_632del
ENST00000682051.1:n.3144_3149del
ENST00000682110.1:n.3197_3202del
ENST00000682140.1:c.3125_3130del	ENSP00000507829.1:p.Leu1042_Thr1043del
ENST00000682185.1:n.4433_4438del
ENST00000682204.1:c.*1266_*1271del	ENSP00000507094.1:n.*1266_*1271del
ENST00000682215.1:n.3194_3199del
ENST00000682288.1:c.*1559_*1564del	ENSP00000507506.1:n.*1559_*1564del
ENST00000682442.1:n.3318_3323del
ENST00000682528.1:n.3274_3279del
ENST00000682673.1:n.3141_3146del
ENST00000682805.1:n.3194_3199del
ENST00000682965.1:c.3125_3130del	ENSP00000508229.1:p.Leu1042_Thr1043del
ENST00000683093.1:n.3296_3301del
ENST00000683136.1:c.3125_3130del	ENSP00000507768.1:p.Leu1042_Thr1043del
ENST00000683153.1:n.3353_3358del
ENST00000683365.1:n.3299_3304del
ENST00000683377.1:n.3197_3202del
ENST00000683456.1:c.*265_*270del	ENSP00000508318.1:n.*265_*270del
ENST00000683522.1:n.3197_3202del
ENST00000683562.1:c.*1297_*1302del	ENSP00000508265.1:n.*1297_*1302del
ENST00000683693.1:n.3274_3279del
ENST00000683725.1:c.3128_3133del	ENSP00000507496.1:p.Leu1043_Thr1044del
ENST00000684010.1:n.3192_3197del
ENST00000684157.1:n.3197_3202del
ENST00000684253.1:n.3100_3105del
ENST00000684288.1:c.*1300_*1305del	ENSP00000507143.1:n.*1300_*1305del
ENST00000684313.1:n.2629_2634del
ENST00000684332.1:n.3270_3275del
ENST00000684371.1:n.3303_3308del
ENST00000684404.1:n.3240_3245del
ENST00000684442.1:n.3197_3202del
ENST00000684555.1:c.*1340_*1345del	ENSP00000507705.1:n.*1340_*1345del
ENST00000684571.1:c.2969_2974del	ENSP00000506935.1:p.Leu990_Thr991del
ENST00000684593.1:c.*2833_*2838del	ENSP00000507005.1:n.*2833_*2838del
ENST00000684711.1:c.*1524_*1529del	ENSP00000506841.1:n.*1524_*1529del
ENST00000302539.9:c.3131_3136del	ENSP00000303960.4:p.Leu1044_Thr1045del
ENST00000389817.8:c.3128_3133del MANE Select	ENSP00000374467.4:p.Leu1043_Thr1044del
ENST00000642271.1:c.3125_3130del	ENSP00000493749.1:p.Leu1042_Thr1043del
ENST00000642579.1:c.1212_1217del
ENST00000642611.1:n.3082_3087del
ENST00000642902.1:c.2910_2915del
ENST00000643260.1:c.3128_3133del	ENSP00000494450.1:p.Leu1043_Thr1044del
ENST00000643562.1:c.*1104_*1109del	ENSP00000496124.1:n.*1104_*1109del
ENST00000643925.1:c.1252_1257del
ENST00000644447.1:c.1484_1489del	ENSP00000496282.1:p.Leu495_Thr496del
ENST00000644484.1:c.*1383_*1388del	ENSP00000493558.1:n.*1383_*1388del
ENST00000644542.1:c.*2833_*2838del	ENSP00000495532.1:n.*2833_*2838del
ENST00000644675.1:c.*1300_*1305del	ENSP00000494567.1:n.*1300_*1305del
ENST00000644757.1:c.*1413_*1418del	ENSP00000495085.1:n.*1413_*1418del
ENST00000644772.1:c.3194_3199del	ENSP00000494321.1:p.Leu1065_Thr1066del
ENST00000645004.1:n.267_272del
ENST00000645076.1:c.2327_2332del
ENST00000645417.1:c.294_299del
ENST00000645744.1:c.*1392_*1397del	ENSP00000494564.1:n.*1392_*1397del
ENST00000645760.1:c.3403_3408del
ENST00000645884.1:c.*265_*270del	ENSP00000495516.1:n.*265_*270del
ENST00000646003.1:c.*1084_*1089del	ENSP00000495259.1:n.*1084_*1089del
ENST00000646207.1:c.*1595_*1600del	ENSP00000495025.1:n.*1595_*1600del
ENST00000646276.1:c.*1401_*1406del	ENSP00000496070.1:n.*1401_*1406del
ENST00000646592.1:c.2434_2439del
ENST00000646902.1:c.3125_3130del	ENSP00000494101.1:p.Leu1042_Thr1043del
ENST00000646993.1:c.*1524_*1529del	ENSP00000493720.1:n.*1524_*1529del
ENST00000647013.1:c.3134_3139del	ENSP00000496741.1:n.3134_3139del
ENST00000647015.1:c.2879_2884del	ENSP00000495389.1:p.Leu960_Thr961del
ENST00000647086.1:c.*2858_*2863del	ENSP00000493677.1:n.*2858_*2863del
ENST00000647158.1:c.*1269_*1274del	ENSP00000495744.1:n.*1269_*1274del
ENST00000302539.8:c.3131_3136del	ENSP00000303960.4:p.Leu1044_Thr1045del
ENST00000389817.7:c.3128_3133del	ENSP00000374467.3:p.Leu1043_Thr1044del
ENST00000524561.1:n.260_265del
ENST00000526921.5:n.812_817del
ENST00000527905.5:c.*4_*9del	ENSP00000431653.1:n.*4_*9del
ENST00000529967.5:n.797_802del
NM_000352.4:c.3128_3133del	NP_000343.2:p.Leu1043_Thr1044del
NM_001287174.1:c.3131_3136del	NP_001274103.1:p.Leu1044_Thr1045del
XM_011520331.1:c.3128_3133del	XP_011518633.1:p.Leu1043_Thr1044del
XM_011520332.1:c.3131_3136del	XP_011518634.1:p.Leu1044_Thr1045del
XM_011520333.1:c.1628_1633del	XP_011518635.1:p.Leu543_Thr544del
XR_930890.1:n.3194_3199del
XR_930891.1:n.3194_3199del
XR_930892.1:n.3094_3099del
XR_930893.1:n.3091_3096del
NM_001351295.1:c.3194_3199del	NP_001338224.1:p.Leu1065_Thr1066del
NM_001351296.1:c.3128_3133del	NP_001338225.1:p.Leu1043_Thr1044del
NM_001351297.1:c.3125_3130del	NP_001338226.1:p.Leu1042_Thr1043del
NR_147094.1:n.3277_3282del
XM_017018197.2:c.3197_3202del	XP_016873686.1:p.Leu1066_Thr1067del
XM_017018199.1:c.3194_3199del	XP_016873688.1:p.Leu1065_Thr1066del
XM_017018201.2:c.3197_3202del	XP_016873690.1:p.Leu1066_Thr1067del
XM_017018202.1:c.1694_1699del	XP_016873691.1:p.Leu565_Thr566del
XM_017018204.1:c.1085_1090del	XP_016873693.1:p.Leu362_Thr363del
XM_024448668.1:c.1496_1501del	XP_024304436.1:p.Leu499_Thr500del
XR_001747945.2:n.3269_3274del
XR_001747946.2:n.3200_3205del
XR_002957189.1:n.3349_3354del
NM_000352.6:c.3128_3133del MANE Select	NP_000343.2:p.Leu1043_Thr1044del
NM_001287174.2:c.3131_3136del	NP_001274103.1:p.Leu1044_Thr1045del
NM_001351295.2:c.3194_3199del	NP_001338224.1:p.Leu1065_Thr1066del
NM_001351296.2:c.3128_3133del	NP_001338225.1:p.Leu1043_Thr1044del
NM_001351297.2:c.3125_3130del	NP_001338226.1:p.Leu1042_Thr1043del
NR_147094.2:n.3277_3282del
NM_001287174.3:c.3131_3136del	NP_001274103.1:p.Leu1044_Thr1045del