Canonical Allele Identifier: CA2841180340

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393096del , CM000673.2:g.17393096del	GRCh38
NC_000011.9:g.17414643del , CM000673.1:g.17414643del	GRCh37
NC_000011.8:g.17371219del	NCBI36
NG_008867.1:g.88808del
NG_012446.1:g.565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4243del
ENST00000526037.6:n.577del
ENST00000528374.2:c.1233del
ENST00000529967.6:n.2981del
ENST00000532220.2:n.3875del
ENST00000642611.2:n.5975del
ENST00000644057.2:n.1218del
ENST00000645004.2:n.2141del
ENST00000682051.1:n.4804del
ENST00000682110.1:n.4857del
ENST00000682140.1:c.*428del	ENSP00000507829.1:n.*428del
ENST00000682185.1:n.5947del
ENST00000682204.1:c.*2780del	ENSP00000507094.1:n.*2780del
ENST00000682215.1:n.5224del
ENST00000682288.1:c.*3073del	ENSP00000507506.1:n.*3073del
ENST00000682442.1:n.5077del
ENST00000682528.1:n.4934del
ENST00000682673.1:n.4801del
ENST00000682805.1:n.5262del
ENST00000682965.1:c.*1064del	ENSP00000508229.1:n.*1064del
ENST00000683093.1:n.5837del
ENST00000683136.1:c.4525del	ENSP00000507768.1:p.Val1509Ter
ENST00000683153.1:n.4899del
ENST00000683365.1:n.4959del
ENST00000683377.1:n.4753del
ENST00000683456.1:c.*1779del	ENSP00000508318.1:n.*1779del
ENST00000683522.1:n.4939del
ENST00000683562.1:c.*2707del	ENSP00000508265.1:n.*2707del
ENST00000683693.1:n.6318del
ENST00000683725.1:c.*107del	ENSP00000507496.1:n.*107del
ENST00000684010.1:n.4852del
ENST00000684014.1:n.829del
ENST00000684157.1:n.5842del
ENST00000684253.1:n.4760del
ENST00000684288.1:c.*2814del	ENSP00000507143.1:n.*2814del
ENST00000684313.1:n.4289del
ENST00000684332.1:n.4930del
ENST00000684371.1:n.4963del
ENST00000684404.1:n.5885del
ENST00000684442.1:n.5081del
ENST00000684555.1:c.*2854del	ENSP00000507705.1:n.*2854del
ENST00000684571.1:c.4483del	ENSP00000506935.1:p.Val1495Ter
ENST00000684593.1:c.*4347del	ENSP00000507005.1:n.*4347del
ENST00000684711.1:c.*3038del	ENSP00000506841.1:n.*3038del
ENST00000302539.9:c.4645del	ENSP00000303960.4:p.Val1549Ter
ENST00000389817.8:c.4642del MANE Select	ENSP00000374467.4:p.Val1548Ter
ENST00000642271.1:c.4639del	ENSP00000493749.1:p.Val1547Ter
ENST00000642579.1:c.2696del
ENST00000642611.1:n.5860del
ENST00000642902.1:c.4424del
ENST00000643260.1:c.4642del	ENSP00000494450.1:p.Val1548Ter
ENST00000643562.1:c.*2764del	ENSP00000496124.1:n.*2764del
ENST00000643925.1:c.3219del
ENST00000644057.1:n.801del
ENST00000644484.1:c.*4028del	ENSP00000493558.1:n.*4028del
ENST00000644675.1:c.*2814del	ENSP00000494567.1:n.*2814del
ENST00000644757.1:c.*3203-115del	ENSP00000495085.1:n.*3203-115del
ENST00000644772.1:c.4708del	ENSP00000494321.1:p.Val1570Ter
ENST00000645004.1:n.2335del
ENST00000645076.1:c.3737del
ENST00000645417.1:c.1830del
ENST00000645760.1:c.5063del
ENST00000645884.1:c.*1925del	ENSP00000495516.1:n.*1925del
ENST00000646003.1:c.*2664del	ENSP00000495259.1:n.*2664del
ENST00000646207.1:c.*3479del	ENSP00000495025.1:n.*3479del
ENST00000646276.1:c.*4046del	ENSP00000496070.1:n.*4046del
ENST00000646592.1:c.3948del
ENST00000646902.1:c.4609del	ENSP00000494101.1:p.Val1537Ter
ENST00000646993.1:c.*3080del	ENSP00000493720.1:n.*3080del
ENST00000647015.1:c.4393del	ENSP00000495389.1:p.Val1465Ter
ENST00000647086.1:c.*4228del	ENSP00000493677.1:n.*4228del
ENST00000647158.1:c.*2929del	ENSP00000495744.1:n.*2929del
ENST00000302539.8:c.4645del	ENSP00000303960.4:p.Val1549Ter
ENST00000389817.7:c.4642del	ENSP00000374467.3:p.Val1548Ter
ENST00000525022.1:n.621del
ENST00000526037.5:n.402del
ENST00000526168.5:c.430del
ENST00000531642.5:c.673del
NM_000352.4:c.4642del	NP_000343.2:p.Val1548Ter
NM_001287174.1:c.4645del	NP_001274103.1:p.Val1549Ter
XM_011520331.1:c.4642del	XP_011518633.1:p.Val1548Ter
XM_011520333.1:c.3142del	XP_011518635.1:p.Val1048Ter
XR_930890.1:n.4604del
NM_001351295.1:c.4708del	NP_001338224.1:p.Val1570Ter
NM_001351296.1:c.4642del	NP_001338225.1:p.Val1548Ter
NM_001351297.1:c.4639del	NP_001338226.1:p.Val1547Ter
NR_147094.1:n.4937del
XM_017018197.2:c.4711del	XP_016873686.1:p.Val1571Ter
XM_017018199.1:c.4708del	XP_016873688.1:p.Val1570Ter
XM_017018202.1:c.3208del	XP_016873691.1:p.Val1070Ter
XM_017018204.1:c.2599del	XP_016873693.1:p.Val867Ter
XM_024448668.1:c.3010del	XP_024304436.1:p.Val1004Ter
XR_001747945.2:n.4679del
XR_001747946.2:n.4610del
XR_002957189.1:n.6393del
NM_000352.6:c.4642del MANE Select	NP_000343.2:p.Val1548Ter
NM_001287174.2:c.4645del	NP_001274103.1:p.Val1549Ter
NM_001351295.2:c.4708del	NP_001338224.1:p.Val1570Ter
NM_001351296.2:c.4642del	NP_001338225.1:p.Val1548Ter
NM_001351297.2:c.4639del	NP_001338226.1:p.Val1547Ter
NR_147094.2:n.4937del
NM_001287174.3:c.4645del	NP_001274103.1:p.Val1549Ter