Canonical Allele Identifier: CA2612662512

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17408234-TCTCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408239_17408243del , CM000673.2:g.17408239_17408243del	GRCh38
NC_000011.9:g.17429786_17429790del , CM000673.1:g.17429786_17429790del	GRCh37
NC_000011.8:g.17386362_17386366del	NCBI36
NG_008867.1:g.73664_73668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2489+153_2489+157del
ENST00000529967.6:n.1079+153_1079+157del
ENST00000532220.2:n.552+153_552+157del
ENST00000642611.2:n.2889+153_2889+157del
ENST00000682051.1:n.2836+153_2836+157del
ENST00000682110.1:n.2889+153_2889+157del
ENST00000682140.1:c.2817+153_2817+157del	ENSP00000507829.1:n.2817+153_2817+157del
ENST00000682185.1:n.4125+153_4125+157del
ENST00000682204.1:c.*958+153_*958+157del	ENSP00000507094.1:n.*958+153_*958+157del
ENST00000682215.1:n.2886+153_2886+157del
ENST00000682288.1:c.*1251+153_*1251+157del	ENSP00000507506.1:n.*1251+153_*1251+157del
ENST00000682442.1:n.3010+153_3010+157del
ENST00000682528.1:n.2886+153_2886+157del
ENST00000682673.1:n.2833+153_2833+157del
ENST00000682805.1:n.2886+153_2886+157del
ENST00000682965.1:c.2817+153_2817+157del	ENSP00000508229.1:n.2817+153_2817+157del
ENST00000683093.1:n.2988+153_2988+157del
ENST00000683136.1:c.2817+153_2817+157del	ENSP00000507768.1:n.2817+153_2817+157del
ENST00000683153.1:n.3045+153_3045+157del
ENST00000683365.1:n.2991+153_2991+157del
ENST00000683377.1:n.2889+153_2889+157del
ENST00000683456.1:c.2820+153_2820+157del	ENSP00000508318.1:n.2820+153_2820+157del
ENST00000683522.1:n.2889+153_2889+157del
ENST00000683562.1:c.*989+153_*989+157del	ENSP00000508265.1:n.*989+153_*989+157del
ENST00000683693.1:n.2886+153_2886+157del
ENST00000683725.1:c.2820+153_2820+157del	ENSP00000507496.1:n.2820+153_2820+157del
ENST00000684010.1:n.2804+153_2804+157del
ENST00000684157.1:n.2889+153_2889+157del
ENST00000684253.1:n.2792+153_2792+157del
ENST00000684288.1:c.*992+153_*992+157del	ENSP00000507143.1:n.*992+153_*992+157del
ENST00000684313.1:n.2321+153_2321+157del
ENST00000684332.1:n.2962+153_2962+157del
ENST00000684371.1:n.2995+153_2995+157del
ENST00000684404.1:n.2886+153_2886+157del
ENST00000684442.1:n.2889+153_2889+157del
ENST00000684555.1:c.*1032+153_*1032+157del	ENSP00000507705.1:n.*1032+153_*1032+157del
ENST00000684571.1:c.2661+153_2661+157del	ENSP00000506935.1:n.2661+153_2661+157del
ENST00000684593.1:c.*2525+153_*2525+157del	ENSP00000507005.1:n.*2525+153_*2525+157del
ENST00000684711.1:c.*1216+153_*1216+157del	ENSP00000506841.1:n.*1216+153_*1216+157del
ENST00000302539.9:c.2823+153_2823+157del	ENSP00000303960.4:n.2823+153_2823+157del
ENST00000389817.8:c.2820+153_2820+157del MANE Select	ENSP00000374467.4:n.2820+153_2820+157del
ENST00000642271.1:c.2817+153_2817+157del	ENSP00000493749.1:n.2817+153_2817+157del
ENST00000642579.1:c.904+153_904+157del
ENST00000642611.1:n.2774+153_2774+157del
ENST00000642902.1:c.2655+153_2655+157del
ENST00000643260.1:c.2820+153_2820+157del	ENSP00000494450.1:n.2820+153_2820+157del
ENST00000643562.1:c.*796+153_*796+157del	ENSP00000496124.1:n.*796+153_*796+157del
ENST00000643925.1:c.864+153_864+157del
ENST00000644447.1:c.1176+153_1176+157del	ENSP00000496282.1:n.1176+153_1176+157del
ENST00000644484.1:c.*1029+153_*1029+157del	ENSP00000493558.1:n.*1029+153_*1029+157del
ENST00000644542.1:c.*2525+153_*2525+157del	ENSP00000495532.1:n.*2525+153_*2525+157del
ENST00000644675.1:c.*992+153_*992+157del	ENSP00000494567.1:n.*992+153_*992+157del
ENST00000644757.1:c.*1125+153_*1125+157del	ENSP00000495085.1:n.*1125+153_*1125+157del
ENST00000644772.1:c.2886+153_2886+157del	ENSP00000494321.1:n.2886+153_2886+157del
ENST00000645076.1:c.2072+153_2072+157del
ENST00000645744.1:c.*1184+153_*1184+157del	ENSP00000494564.1:n.*1184+153_*1184+157del
ENST00000645760.1:c.3095+153_3095+157del
ENST00000645884.1:c.2820+153_2820+157del	ENSP00000495516.1:n.2820+153_2820+157del
ENST00000646003.1:c.*876+153_*876+157del	ENSP00000495259.1:n.*876+153_*876+157del
ENST00000646207.1:c.*1248_*1252del	ENSP00000495025.1:n.*1248_*1252del
ENST00000646276.1:c.*1093+153_*1093+157del	ENSP00000496070.1:n.*1093+153_*1093+157del
ENST00000646592.1:c.2046+153_2046+157del
ENST00000646902.1:c.2817+153_2817+157del	ENSP00000494101.1:n.2817+153_2817+157del
ENST00000646993.1:c.*1216+153_*1216+157del	ENSP00000493720.1:n.*1216+153_*1216+157del
ENST00000647013.1:c.2826+153_2826+157del	ENSP00000496741.1:n.2826+153_2826+157del
ENST00000647015.1:c.2571+153_2571+157del	ENSP00000495389.1:n.2571+153_2571+157del
ENST00000647086.1:c.*2550+153_*2550+157del	ENSP00000493677.1:n.*2550+153_*2550+157del
ENST00000647158.1:c.*961+153_*961+157del	ENSP00000495744.1:n.*961+153_*961+157del
ENST00000302539.8:c.2823+153_2823+157del	ENSP00000303960.4:n.2823+153_2823+157del
ENST00000389817.7:c.2820+153_2820+157del	ENSP00000374467.3:n.2820+153_2820+157del
ENST00000526921.5:n.504+153_504+157del
ENST00000527905.5:c.2790+153_2790+157del	ENSP00000431653.1:n.2790+153_2790+157del
ENST00000529967.5:n.489+153_489+157del
NM_000352.4:c.2820+153_2820+157del	NP_000343.2:n.2820+153_2820+157del
NM_001287174.1:c.2823+153_2823+157del	NP_001274103.1:n.2823+153_2823+157del
XM_011520331.1:c.2820+153_2820+157del	XP_011518633.1:n.2820+153_2820+157del
XM_011520332.1:c.2823+153_2823+157del	XP_011518634.1:n.2823+153_2823+157del
XM_011520333.1:c.1320+153_1320+157del	XP_011518635.1:n.1320+153_1320+157del
XM_011520334.1:c.2823+153_2823+157del	XP_011518636.1:n.2823+153_2823+157del
XR_930890.1:n.2886+153_2886+157del
XR_930891.1:n.2886+153_2886+157del
XR_930892.1:n.2886+153_2886+157del
XR_930893.1:n.2883+153_2883+157del
NM_001351295.1:c.2886+153_2886+157del	NP_001338224.1:n.2886+153_2886+157del
NM_001351296.1:c.2820+153_2820+157del	NP_001338225.1:n.2820+153_2820+157del
NM_001351297.1:c.2817+153_2817+157del	NP_001338226.1:n.2817+153_2817+157del
NR_147094.1:n.2889+153_2889+157del
XM_017018197.2:c.2889+153_2889+157del	XP_016873686.1:n.2889+153_2889+157del
XM_017018199.1:c.2886+153_2886+157del	XP_016873688.1:n.2886+153_2886+157del
XM_017018201.2:c.2889+153_2889+157del	XP_016873690.1:n.2889+153_2889+157del
XM_017018202.1:c.1386+153_1386+157del	XP_016873691.1:n.1386+153_1386+157del
XM_017018204.1:c.777+153_777+157del	XP_016873693.1:n.777+153_777+157del
XM_024448668.1:c.1188+153_1188+157del	XP_024304436.1:n.1188+153_1188+157del
XR_001747945.2:n.2961+153_2961+157del
XR_001747946.2:n.2892+153_2892+157del
XR_002957189.1:n.2961+153_2961+157del
NM_000352.6:c.2820+153_2820+157del MANE Select	NP_000343.2:n.2820+153_2820+157del
NM_001287174.2:c.2823+153_2823+157del	NP_001274103.1:n.2823+153_2823+157del
NM_001351295.2:c.2886+153_2886+157del	NP_001338224.1:n.2886+153_2886+157del
NM_001351296.2:c.2820+153_2820+157del	NP_001338225.1:n.2820+153_2820+157del
NM_001351297.2:c.2817+153_2817+157del	NP_001338226.1:n.2817+153_2817+157del
NR_147094.2:n.2889+153_2889+157del
NM_001287174.3:c.2823+153_2823+157del	NP_001274103.1:n.2823+153_2823+157del