Canonical Allele Identifier: CA935529970

Gene: ABCC8

Linked Data

• dbSNP Id: rs1954627347
• gnomAD v3: 11-17408097-CTT-C
• gnomAD v4: 11-17408097-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408098_17408099del , CM000673.2:g.17408098_17408099del	GRCh38
NC_000011.9:g.17429645_17429646del , CM000673.1:g.17429645_17429646del	GRCh37
NC_000011.8:g.17386221_17386222del	NCBI36
NG_008867.1:g.73804_73805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2489+293_2489+294del
ENST00000529967.6:n.1079+293_1079+294del
ENST00000532220.2:n.552+293_552+294del
ENST00000642611.2:n.2889+293_2889+294del
ENST00000682051.1:n.2836+293_2836+294del
ENST00000682110.1:n.2889+293_2889+294del
ENST00000682140.1:c.2817+293_2817+294del	ENSP00000507829.1:n.2817+293_2817+294del
ENST00000682185.1:n.4125+293_4125+294del
ENST00000682204.1:c.*958+293_*958+294del	ENSP00000507094.1:n.*958+293_*958+294del
ENST00000682215.1:n.2886+293_2886+294del
ENST00000682288.1:c.*1251+293_*1251+294del	ENSP00000507506.1:n.*1251+293_*1251+294del
ENST00000682442.1:n.3010+293_3010+294del
ENST00000682528.1:n.2886+293_2886+294del
ENST00000682673.1:n.2833+293_2833+294del
ENST00000682805.1:n.2886+293_2886+294del
ENST00000682965.1:c.2817+293_2817+294del	ENSP00000508229.1:n.2817+293_2817+294del
ENST00000683093.1:n.2988+293_2988+294del
ENST00000683136.1:c.2817+293_2817+294del	ENSP00000507768.1:n.2817+293_2817+294del
ENST00000683153.1:n.3045+293_3045+294del
ENST00000683365.1:n.2991+293_2991+294del
ENST00000683377.1:n.2889+293_2889+294del
ENST00000683456.1:c.2820+293_2820+294del	ENSP00000508318.1:n.2820+293_2820+294del
ENST00000683522.1:n.2889+293_2889+294del
ENST00000683562.1:c.*989+293_*989+294del	ENSP00000508265.1:n.*989+293_*989+294del
ENST00000683693.1:n.2886+293_2886+294del
ENST00000683725.1:c.2820+293_2820+294del	ENSP00000507496.1:n.2820+293_2820+294del
ENST00000684010.1:n.2804+293_2804+294del
ENST00000684157.1:n.2889+293_2889+294del
ENST00000684253.1:n.2792+293_2792+294del
ENST00000684288.1:c.*992+293_*992+294del	ENSP00000507143.1:n.*992+293_*992+294del
ENST00000684313.1:n.2321+293_2321+294del
ENST00000684332.1:n.2962+293_2962+294del
ENST00000684371.1:n.2995+293_2995+294del
ENST00000684404.1:n.2886+293_2886+294del
ENST00000684442.1:n.2889+293_2889+294del
ENST00000684555.1:c.*1032+293_*1032+294del	ENSP00000507705.1:n.*1032+293_*1032+294del
ENST00000684571.1:c.2661+293_2661+294del	ENSP00000506935.1:n.2661+293_2661+294del
ENST00000684593.1:c.*2525+293_*2525+294del	ENSP00000507005.1:n.*2525+293_*2525+294del
ENST00000684711.1:c.*1216+293_*1216+294del	ENSP00000506841.1:n.*1216+293_*1216+294del
ENST00000302539.9:c.2823+293_2823+294del	ENSP00000303960.4:n.2823+293_2823+294del
ENST00000389817.8:c.2820+293_2820+294del MANE Select	ENSP00000374467.4:n.2820+293_2820+294del
ENST00000642271.1:c.2817+293_2817+294del	ENSP00000493749.1:n.2817+293_2817+294del
ENST00000642579.1:c.904+293_904+294del
ENST00000642611.1:n.2774+293_2774+294del
ENST00000642902.1:c.2655+293_2655+294del
ENST00000643260.1:c.2820+293_2820+294del	ENSP00000494450.1:n.2820+293_2820+294del
ENST00000643562.1:c.*796+293_*796+294del	ENSP00000496124.1:n.*796+293_*796+294del
ENST00000643925.1:c.864+293_864+294del
ENST00000644447.1:c.1176+293_1176+294del	ENSP00000496282.1:n.1176+293_1176+294del
ENST00000644484.1:c.*1029+293_*1029+294del	ENSP00000493558.1:n.*1029+293_*1029+294del
ENST00000644542.1:c.*2525+293_*2525+294del	ENSP00000495532.1:n.*2525+293_*2525+294del
ENST00000644675.1:c.*992+293_*992+294del	ENSP00000494567.1:n.*992+293_*992+294del
ENST00000644757.1:c.*1125+293_*1125+294del	ENSP00000495085.1:n.*1125+293_*1125+294del
ENST00000644772.1:c.2886+293_2886+294del	ENSP00000494321.1:n.2886+293_2886+294del
ENST00000645076.1:c.2072+293_2072+294del
ENST00000645744.1:c.*1184+293_*1184+294del	ENSP00000494564.1:n.*1184+293_*1184+294del
ENST00000645760.1:c.3095+293_3095+294del
ENST00000645884.1:c.2820+293_2820+294del	ENSP00000495516.1:n.2820+293_2820+294del
ENST00000646003.1:c.*876+293_*876+294del	ENSP00000495259.1:n.*876+293_*876+294del
ENST00000646207.1:c.*1287+101_*1287+102del	ENSP00000495025.1:n.*1287+101_*1287+102del
ENST00000646276.1:c.*1093+293_*1093+294del	ENSP00000496070.1:n.*1093+293_*1093+294del
ENST00000646592.1:c.2046+293_2046+294del
ENST00000646902.1:c.2817+293_2817+294del	ENSP00000494101.1:n.2817+293_2817+294del
ENST00000646993.1:c.*1216+293_*1216+294del	ENSP00000493720.1:n.*1216+293_*1216+294del
ENST00000647013.1:c.2826+293_2826+294del	ENSP00000496741.1:n.2826+293_2826+294del
ENST00000647015.1:c.2571+293_2571+294del	ENSP00000495389.1:n.2571+293_2571+294del
ENST00000647086.1:c.*2550+293_*2550+294del	ENSP00000493677.1:n.*2550+293_*2550+294del
ENST00000647158.1:c.*961+293_*961+294del	ENSP00000495744.1:n.*961+293_*961+294del
ENST00000302539.8:c.2823+293_2823+294del	ENSP00000303960.4:n.2823+293_2823+294del
ENST00000389817.7:c.2820+293_2820+294del	ENSP00000374467.3:n.2820+293_2820+294del
ENST00000526921.5:n.504+293_504+294del
ENST00000527905.5:c.2790+293_2790+294del	ENSP00000431653.1:n.2790+293_2790+294del
ENST00000529967.5:n.489+293_489+294del
NM_000352.4:c.2820+293_2820+294del	NP_000343.2:n.2820+293_2820+294del
NM_001287174.1:c.2823+293_2823+294del	NP_001274103.1:n.2823+293_2823+294del
XM_011520331.1:c.2820+293_2820+294del	XP_011518633.1:n.2820+293_2820+294del
XM_011520332.1:c.2823+293_2823+294del	XP_011518634.1:n.2823+293_2823+294del
XM_011520333.1:c.1320+293_1320+294del	XP_011518635.1:n.1320+293_1320+294del
XM_011520334.1:c.2823+293_2823+294del	XP_011518636.1:n.2823+293_2823+294del
XR_930890.1:n.2886+293_2886+294del
XR_930891.1:n.2886+293_2886+294del
XR_930892.1:n.2886+293_2886+294del
XR_930893.1:n.2883+293_2883+294del
NM_001351295.1:c.2886+293_2886+294del	NP_001338224.1:n.2886+293_2886+294del
NM_001351296.1:c.2820+293_2820+294del	NP_001338225.1:n.2820+293_2820+294del
NM_001351297.1:c.2817+293_2817+294del	NP_001338226.1:n.2817+293_2817+294del
NR_147094.1:n.2889+293_2889+294del
XM_017018197.2:c.2889+293_2889+294del	XP_016873686.1:n.2889+293_2889+294del
XM_017018199.1:c.2886+293_2886+294del	XP_016873688.1:n.2886+293_2886+294del
XM_017018201.2:c.2889+293_2889+294del	XP_016873690.1:n.2889+293_2889+294del
XM_017018202.1:c.1386+293_1386+294del	XP_016873691.1:n.1386+293_1386+294del
XM_017018204.1:c.777+293_777+294del	XP_016873693.1:n.777+293_777+294del
XM_024448668.1:c.1188+293_1188+294del	XP_024304436.1:n.1188+293_1188+294del
XR_001747945.2:n.2961+293_2961+294del
XR_001747946.2:n.2892+293_2892+294del
XR_002957189.1:n.2961+293_2961+294del
NM_000352.6:c.2820+293_2820+294del MANE Select	NP_000343.2:n.2820+293_2820+294del
NM_001287174.2:c.2823+293_2823+294del	NP_001274103.1:n.2823+293_2823+294del
NM_001351295.2:c.2886+293_2886+294del	NP_001338224.1:n.2886+293_2886+294del
NM_001351296.2:c.2820+293_2820+294del	NP_001338225.1:n.2820+293_2820+294del
NM_001351297.2:c.2817+293_2817+294del	NP_001338226.1:n.2817+293_2817+294del
NR_147094.2:n.2889+293_2889+294del
NM_001287174.3:c.2823+293_2823+294del	NP_001274103.1:n.2823+293_2823+294del