Canonical Allele Identifier: CA2612661730

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17406653-GGCTGCGGTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406654_17406663del , CM000673.2:g.17406654_17406663del	GRCh38
NC_000011.9:g.17428201_17428210del , CM000673.1:g.17428201_17428210del	GRCh37
NC_000011.8:g.17384777_17384786del	NCBI36
NG_008867.1:g.75240_75249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2857_2866del
ENST00000529967.6:n.1627_1636del
ENST00000532220.2:n.1020_1029del
ENST00000642611.2:n.3357_3366del
ENST00000645004.2:n.787_796del
ENST00000682051.1:n.3304_3313del
ENST00000682110.1:n.3357_3366del
ENST00000682140.1:c.3285_3294del	ENSP00000507829.1:p.His1096CysfsTer2
ENST00000682185.1:n.4593_4602del
ENST00000682204.1:c.*1426_*1435del	ENSP00000507094.1:n.*1426_*1435del
ENST00000682215.1:n.3354_3363del
ENST00000682288.1:c.*1719_*1728del	ENSP00000507506.1:n.*1719_*1728del
ENST00000682442.1:n.3577_3586del
ENST00000682528.1:n.3434_3443del
ENST00000682673.1:n.3301_3310del
ENST00000682805.1:n.3354_3363del
ENST00000682965.1:c.3285_3294del	ENSP00000508229.1:p.His1096CysfsTer2
ENST00000683093.1:n.3456_3465del
ENST00000683136.1:c.3285_3294del	ENSP00000507768.1:p.His1096CysfsTer2
ENST00000683153.1:n.3513_3522del
ENST00000683365.1:n.3459_3468del
ENST00000683377.1:n.3357_3366del
ENST00000683456.1:c.*425_*434del	ENSP00000508318.1:n.*425_*434del
ENST00000683522.1:n.3357_3366del
ENST00000683562.1:c.*1457_*1466del	ENSP00000508265.1:n.*1457_*1466del
ENST00000683693.1:n.3434_3443del
ENST00000683725.1:c.3288_3297del	ENSP00000507496.1:p.His1097CysfsTer2
ENST00000684010.1:n.3352_3361del
ENST00000684157.1:n.3357_3366del
ENST00000684253.1:n.3260_3269del
ENST00000684288.1:c.*1460_*1469del	ENSP00000507143.1:n.*1460_*1469del
ENST00000684313.1:n.2789_2798del
ENST00000684332.1:n.3430_3439del
ENST00000684371.1:n.3463_3472del
ENST00000684404.1:n.3400_3409del
ENST00000684442.1:n.3357_3366del
ENST00000684555.1:c.*1500_*1509del	ENSP00000507705.1:n.*1500_*1509del
ENST00000684571.1:c.3129_3138del	ENSP00000506935.1:p.His1044CysfsTer2
ENST00000684593.1:c.*2993_*3002del	ENSP00000507005.1:n.*2993_*3002del
ENST00000684711.1:c.*1684_*1693del	ENSP00000506841.1:n.*1684_*1693del
ENST00000302539.9:c.3291_3300del	ENSP00000303960.4:p.His1098CysfsTer2
ENST00000389817.8:c.3288_3297del MANE Select	ENSP00000374467.4:p.His1097CysfsTer2
ENST00000642271.1:c.3285_3294del	ENSP00000493749.1:p.His1096CysfsTer2
ENST00000642579.1:c.1372_1381del
ENST00000642611.1:n.3242_3251del
ENST00000642902.1:c.3070_3079del
ENST00000643260.1:c.3288_3297del	ENSP00000494450.1:p.His1097CysfsTer2
ENST00000643562.1:c.*1264_*1273del	ENSP00000496124.1:n.*1264_*1273del
ENST00000643925.1:c.1412_1421del
ENST00000644447.1:c.1644_1653del	ENSP00000496282.1:p.His549CysfsTer2
ENST00000644484.1:c.*1543_*1552del	ENSP00000493558.1:n.*1543_*1552del
ENST00000644542.1:c.*3092_*3101del	ENSP00000495532.1:n.*3092_*3101del
ENST00000644675.1:c.*1460_*1469del	ENSP00000494567.1:n.*1460_*1469del
ENST00000644757.1:c.*1573_*1582del	ENSP00000495085.1:n.*1573_*1582del
ENST00000644772.1:c.3354_3363del	ENSP00000494321.1:p.His1119CysfsTer2
ENST00000645004.1:n.427_436del
ENST00000645076.1:c.2487_2496del
ENST00000645417.1:c.454_463del
ENST00000645744.1:c.*1552_*1561del	ENSP00000494564.1:n.*1552_*1561del
ENST00000645760.1:c.3563_3572del
ENST00000645884.1:c.*425_*434del	ENSP00000495516.1:n.*425_*434del
ENST00000646003.1:c.*1244_*1253del	ENSP00000495259.1:n.*1244_*1253del
ENST00000646207.1:c.*1755_*1764del	ENSP00000495025.1:n.*1755_*1764del
ENST00000646276.1:c.*1561_*1570del	ENSP00000496070.1:n.*1561_*1570del
ENST00000646592.1:c.2594_2603del
ENST00000646902.1:c.3285_3294del	ENSP00000494101.1:p.His1096CysfsTer2
ENST00000646993.1:c.*1684_*1693del	ENSP00000493720.1:n.*1684_*1693del
ENST00000647013.1:c.3294_3303del	ENSP00000496741.1:n.3294_3303del
ENST00000647015.1:c.3039_3048del	ENSP00000495389.1:p.His1014CysfsTer2
ENST00000647086.1:c.*3018_*3027del	ENSP00000493677.1:n.*3018_*3027del
ENST00000647158.1:c.*1429_*1438del	ENSP00000495744.1:n.*1429_*1438del
ENST00000302539.8:c.3291_3300del	ENSP00000303960.4:p.His1098CysfsTer2
ENST00000389817.7:c.3288_3297del	ENSP00000374467.3:p.His1097CysfsTer2
ENST00000524561.1:n.420_429del
ENST00000527905.5:c.*164_*173del	ENSP00000431653.1:n.*164_*173del
NM_000352.4:c.3288_3297del	NP_000343.2:p.His1097CysfsTer2
NM_001287174.1:c.3291_3300del	NP_001274103.1:p.His1098CysfsTer2
XM_011520331.1:c.3288_3297del	XP_011518633.1:p.His1097CysfsTer2
XM_011520332.1:c.3291_3300del	XP_011518634.1:p.His1098CysfsTer2
XM_011520333.1:c.1788_1797del	XP_011518635.1:p.His597CysfsTer2
XR_930890.1:n.3354_3363del
XR_930891.1:n.3354_3363del
XR_930892.1:n.3254_3263del
XR_930893.1:n.3251_3260del
NM_001351295.1:c.3354_3363del	NP_001338224.1:p.His1119CysfsTer2
NM_001351296.1:c.3288_3297del	NP_001338225.1:p.His1097CysfsTer2
NM_001351297.1:c.3285_3294del	NP_001338226.1:p.His1096CysfsTer2
NR_147094.1:n.3437_3446del
XM_017018197.2:c.3357_3366del	XP_016873686.1:p.His1120CysfsTer2
XM_017018199.1:c.3354_3363del	XP_016873688.1:p.His1119CysfsTer2
XM_017018201.2:c.3357_3366del	XP_016873690.1:p.His1120CysfsTer2
XM_017018202.1:c.1854_1863del	XP_016873691.1:p.His619CysfsTer2
XM_017018204.1:c.1245_1254del	XP_016873693.1:p.His416CysfsTer2
XM_024448668.1:c.1656_1665del	XP_024304436.1:p.His553CysfsTer2
XR_001747945.2:n.3429_3438del
XR_001747946.2:n.3360_3369del
XR_002957189.1:n.3509_3518del
NM_000352.6:c.3288_3297del MANE Select	NP_000343.2:p.His1097CysfsTer2
NM_001287174.2:c.3291_3300del	NP_001274103.1:p.His1098CysfsTer2
NM_001351295.2:c.3354_3363del	NP_001338224.1:p.His1119CysfsTer2
NM_001351296.2:c.3288_3297del	NP_001338225.1:p.His1097CysfsTer2
NM_001351297.2:c.3285_3294del	NP_001338226.1:p.His1096CysfsTer2
NR_147094.2:n.3437_3446del
NM_001287174.3:c.3291_3300del	NP_001274103.1:p.His1098CysfsTer2