Canonical Allele Identifier: CA2580082805

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1725995
• ClinVar RCV Id: RCV002306966

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404615del , CM000673.2:g.17404615del	GRCh38
NC_000011.9:g.17426162del , CM000673.1:g.17426162del	GRCh37
NC_000011.8:g.17382738del	NCBI36
NG_008867.1:g.77288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3023del
ENST00000528374.2:c.33del
ENST00000529967.6:n.1793del
ENST00000532220.2:n.1186del
ENST00000642611.2:n.3523del
ENST00000645004.2:n.953del
ENST00000682051.1:n.3470del
ENST00000682110.1:n.3523del
ENST00000682140.1:c.3451del	ENSP00000507829.1:p.Ala1151ProfsTer?
ENST00000682185.1:n.4759del
ENST00000682204.1:c.*1592del	ENSP00000507094.1:n.*1592del
ENST00000682215.1:n.3520del
ENST00000682288.1:c.*1885del	ENSP00000507506.1:n.*1885del
ENST00000682442.1:n.3743del
ENST00000682528.1:n.3600del
ENST00000682673.1:n.3467del
ENST00000682805.1:n.3520del
ENST00000682965.1:c.3396+879del	ENSP00000508229.1:n.3396+879del
ENST00000683093.1:n.3622del
ENST00000683136.1:c.3451del	ENSP00000507768.1:p.Ala1151ProfsTer?
ENST00000683153.1:n.3679del
ENST00000683365.1:n.3625del
ENST00000683377.1:n.3523del
ENST00000683456.1:c.*591del	ENSP00000508318.1:n.*591del
ENST00000683522.1:n.3523del
ENST00000683562.1:c.*1623del	ENSP00000508265.1:n.*1623del
ENST00000683693.1:n.3600del
ENST00000683725.1:c.3454del	ENSP00000507496.1:p.Ala1152ProfsTer?
ENST00000684010.1:n.3518del
ENST00000684157.1:n.3523del
ENST00000684253.1:n.3426del
ENST00000684288.1:c.*1626del	ENSP00000507143.1:n.*1626del
ENST00000684313.1:n.2955del
ENST00000684332.1:n.3596del
ENST00000684371.1:n.3629del
ENST00000684404.1:n.3566del
ENST00000684442.1:n.3523del
ENST00000684555.1:c.*1666del	ENSP00000507705.1:n.*1666del
ENST00000684571.1:c.3295del	ENSP00000506935.1:p.Ala1099ProfsTer?
ENST00000684593.1:c.*3159del	ENSP00000507005.1:n.*3159del
ENST00000684711.1:c.*1850del	ENSP00000506841.1:n.*1850del
ENST00000302539.9:c.3457del	ENSP00000303960.4:p.Ala1153ProfsTer?
ENST00000389817.8:c.3454del MANE Select	ENSP00000374467.4:p.Ala1152ProfsTer?
ENST00000642271.1:c.3451del	ENSP00000493749.1:p.Ala1151ProfsTer?
ENST00000642579.1:c.1538del
ENST00000642611.1:n.3408del
ENST00000642902.1:c.3236del
ENST00000643260.1:c.3454del	ENSP00000494450.1:p.Ala1152ProfsTer?
ENST00000643562.1:c.*1430del	ENSP00000496124.1:n.*1430del
ENST00000643925.1:c.1578del
ENST00000644447.1:c.1810del	ENSP00000496282.1:p.Ala604ProfsTer?
ENST00000644484.1:c.*1709del	ENSP00000493558.1:n.*1709del
ENST00000644675.1:c.*1626del	ENSP00000494567.1:n.*1626del
ENST00000644757.1:c.*1739del	ENSP00000495085.1:n.*1739del
ENST00000644772.1:c.3520del	ENSP00000494321.1:p.Ala1174ProfsTer?
ENST00000645004.1:n.593del
ENST00000645076.1:c.2653del
ENST00000645417.1:c.620del
ENST00000645744.1:c.*1718del	ENSP00000494564.1:n.*1718del
ENST00000645760.1:c.3729del
ENST00000645884.1:c.*591del	ENSP00000495516.1:n.*591del
ENST00000646003.1:c.*1410del	ENSP00000495259.1:n.*1410del
ENST00000646207.1:c.*1921del	ENSP00000495025.1:n.*1921del
ENST00000646276.1:c.*1727del	ENSP00000496070.1:n.*1727del
ENST00000646592.1:c.2760del
ENST00000646902.1:c.3451del	ENSP00000494101.1:p.Ala1151ProfsTer?
ENST00000646993.1:c.*1850del	ENSP00000493720.1:n.*1850del
ENST00000647013.1:c.3460del	ENSP00000496741.1:n.3460del
ENST00000647015.1:c.3205del	ENSP00000495389.1:p.Ala1069ProfsTer?
ENST00000647086.1:c.*3184del	ENSP00000493677.1:n.*3184del
ENST00000647158.1:c.*1595del	ENSP00000495744.1:n.*1595del
ENST00000302539.8:c.3457del	ENSP00000303960.4:p.Ala1153ProfsTer?
ENST00000389817.7:c.3454del	ENSP00000374467.3:p.Ala1152ProfsTer?
ENST00000524561.1:n.586del
ENST00000527905.5:c.*330del	ENSP00000431653.1:n.*330del
NM_000352.4:c.3454del	NP_000343.2:p.Ala1152ProfsTer?
NM_001287174.1:c.3457del	NP_001274103.1:p.Ala1153ProfsTer?
XM_011520331.1:c.3454del	XP_011518633.1:p.Ala1152ProfsTer?
XM_011520332.1:c.3457del	XP_011518634.1:p.Ala1153ProfsTer?
XM_011520333.1:c.1954del	XP_011518635.1:p.Ala652ProfsTer?
XR_930890.1:n.3520del
XR_930892.1:n.3420del
XR_930893.1:n.3417del
NM_001351295.1:c.3520del	NP_001338224.1:p.Ala1174ProfsTer?
NM_001351296.1:c.3454del	NP_001338225.1:p.Ala1152ProfsTer?
NM_001351297.1:c.3451del	NP_001338226.1:p.Ala1151ProfsTer?
NR_147094.1:n.3603del
XM_017018197.2:c.3523del	XP_016873686.1:p.Ala1175ProfsTer?
XM_017018199.1:c.3520del	XP_016873688.1:p.Ala1174ProfsTer?
XM_017018201.2:c.3523del	XP_016873690.1:p.Ala1175ProfsTer?
XM_017018202.1:c.2020del	XP_016873691.1:p.Ala674ProfsTer?
XM_017018204.1:c.1411del	XP_016873693.1:p.Ala471ProfsTer?
XM_024448668.1:c.1822del	XP_024304436.1:p.Ala608ProfsTer?
XR_001747945.2:n.3595del
XR_001747946.2:n.3526del
XR_002957189.1:n.3675del
NM_000352.6:c.3454del MANE Select	NP_000343.2:p.Ala1152ProfsTer?
NM_001287174.2:c.3457del	NP_001274103.1:p.Ala1153ProfsTer?
NM_001351295.2:c.3520del	NP_001338224.1:p.Ala1174ProfsTer?
NM_001351296.2:c.3454del	NP_001338225.1:p.Ala1152ProfsTer?
NM_001351297.2:c.3451del	NP_001338226.1:p.Ala1151ProfsTer?
NR_147094.2:n.3603del
NM_001287174.3:c.3457del	NP_001274103.1:p.Ala1153ProfsTer?