Canonical Allele Identifier: CA2580082772

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1724457
• ClinVar RCV Id: RCV002309725

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428359del , CM000673.2:g.17428359del	GRCh38
NC_000011.9:g.17449906del , CM000673.1:g.17449906del	GRCh37
NC_000011.8:g.17406482del	NCBI36
NG_008867.1:g.53547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1642del
ENST00000529967.6:n.232del
ENST00000642611.2:n.2039del
ENST00000682051.1:n.1986del
ENST00000682110.1:n.2039del
ENST00000682140.1:c.1970del	ENSP00000507829.1:p.Gly657AlafsTer?
ENST00000682185.1:n.3278del
ENST00000682204.1:c.*111del	ENSP00000507094.1:n.*111del
ENST00000682215.1:n.2039del
ENST00000682288.1:c.*401del	ENSP00000507506.1:n.*401del
ENST00000682442.1:n.2160del
ENST00000682528.1:n.2039del
ENST00000682673.1:n.1986del
ENST00000682805.1:n.2039del
ENST00000682965.1:c.1970del	ENSP00000508229.1:p.Gly657AlafsTer?
ENST00000683093.1:n.2141del
ENST00000683136.1:c.1970del	ENSP00000507768.1:p.Gly657AlafsTer?
ENST00000683153.1:n.2198del
ENST00000683253.1:n.3055del
ENST00000683365.1:n.2141del
ENST00000683377.1:n.2039del
ENST00000683456.1:c.1970del	ENSP00000508318.1:p.Gly657AlafsTer?
ENST00000683522.1:n.2039del
ENST00000683562.1:c.*142del	ENSP00000508265.1:n.*142del
ENST00000683693.1:n.2039del
ENST00000683725.1:c.1973del	ENSP00000507496.1:p.Gly658AlafsTer?
ENST00000684010.1:n.2039del
ENST00000684157.1:n.2039del
ENST00000684253.1:n.1945del
ENST00000684288.1:c.*142del	ENSP00000507143.1:n.*142del
ENST00000684313.1:n.1724-11394del
ENST00000684332.1:n.2112del
ENST00000684371.1:n.2145del
ENST00000684404.1:n.2039del
ENST00000684442.1:n.2039del
ENST00000684555.1:c.*182del	ENSP00000507705.1:n.*182del
ENST00000684571.1:c.1814del	ENSP00000506935.1:p.Gly605AlafsTer?
ENST00000684593.1:c.*1678del	ENSP00000507005.1:n.*1678del
ENST00000684711.1:c.*369del	ENSP00000506841.1:n.*369del
ENST00000302539.9:c.1973del	ENSP00000303960.4:p.Gly658AlafsTer?
ENST00000389817.8:c.1973del MANE Select	ENSP00000374467.4:p.Gly658AlafsTer?
ENST00000532728.6:c.1554del
ENST00000642271.1:c.1970del	ENSP00000493749.1:p.Gly657AlafsTer?
ENST00000642579.1:c.54del
ENST00000642611.1:n.1924del
ENST00000642902.1:c.1808del
ENST00000643260.1:c.1970del	ENSP00000494450.1:p.Gly657AlafsTer?
ENST00000643562.1:c.1965del	ENSP00000496124.1:p.Pro656LeufsTer?
ENST00000644447.1:c.326del	ENSP00000496282.1:p.Gly109AlafsTer?
ENST00000644472.1:c.*334del	ENSP00000495378.1:n.*334del
ENST00000644484.1:c.*182del	ENSP00000493558.1:n.*182del
ENST00000644542.1:c.*1675del	ENSP00000495532.1:n.*1675del
ENST00000644649.1:c.1143del
ENST00000644675.1:c.*142del	ENSP00000494567.1:n.*142del
ENST00000644757.1:c.*275del	ENSP00000495085.1:n.*275del
ENST00000644772.1:c.2039del	ENSP00000494321.1:p.Gly680AlafsTer?
ENST00000645076.1:c.1225del
ENST00000645744.1:c.*334del	ENSP00000494564.1:n.*334del
ENST00000645760.1:c.2248del
ENST00000645884.1:c.1970del	ENSP00000495516.1:p.Gly657AlafsTer?
ENST00000646003.1:c.*111del	ENSP00000495259.1:n.*111del
ENST00000646207.1:c.*334del	ENSP00000495025.1:n.*334del
ENST00000646276.1:c.*243del	ENSP00000496070.1:n.*243del
ENST00000646592.1:c.1196del
ENST00000646902.1:c.1970del	ENSP00000494101.1:p.Gly657AlafsTer?
ENST00000646993.1:c.*369del	ENSP00000493720.1:n.*369del
ENST00000647013.1:c.1976del	ENSP00000496741.1:n.1976del
ENST00000647015.1:c.1721del	ENSP00000495389.1:p.Gly574AlafsTer?
ENST00000647086.1:c.*1700del	ENSP00000493677.1:n.*1700del
ENST00000647158.1:c.*111del	ENSP00000495744.1:n.*111del
ENST00000302539.8:c.1973del	ENSP00000303960.4:p.Gly658AlafsTer?
ENST00000389817.7:c.1973del	ENSP00000374467.3:p.Gly658AlafsTer?
ENST00000527905.5:c.1943del	ENSP00000431653.1:p.Gly648AlafsTer?
NM_000352.4:c.1973del	NP_000343.2:p.Gly658AlafsTer?
NM_001287174.1:c.1973del	NP_001274103.1:p.Gly658AlafsTer?
XM_011520331.1:c.1970del	XP_011518633.1:p.Gly657AlafsTer?
XM_011520332.1:c.1973del	XP_011518634.1:p.Gly658AlafsTer?
XM_011520333.1:c.470del	XP_011518635.1:p.Gly157AlafsTer?
XM_011520334.1:c.1973del	XP_011518636.1:p.Gly658AlafsTer?
XR_930890.1:n.2036del
XR_930891.1:n.2036del
XR_930892.1:n.2036del
XR_930893.1:n.2036del
NM_001351295.1:c.2039del	NP_001338224.1:p.Gly680AlafsTer?
NM_001351296.1:c.1970del	NP_001338225.1:p.Gly657AlafsTer?
NM_001351297.1:c.1970del	NP_001338226.1:p.Gly657AlafsTer?
NR_147094.1:n.2039del
XM_017018197.2:c.2039del	XP_016873686.1:p.Gly680AlafsTer?
XM_017018199.1:c.2036del	XP_016873688.1:p.Gly679AlafsTer?
XM_017018201.2:c.2039del	XP_016873690.1:p.Gly680AlafsTer?
XM_017018202.1:c.536del	XP_016873691.1:p.Gly179AlafsTer?
XM_017018204.1:c.-71del	XP_016873693.1:n.-71del
XM_024448668.1:c.338del	XP_024304436.1:p.Gly113AlafsTer?
XR_001747945.2:n.2111del
XR_001747946.2:n.2045del
XR_002957189.1:n.2111del
NM_000352.6:c.1973del MANE Select	NP_000343.2:p.Gly658AlafsTer?
NM_001287174.2:c.1973del	NP_001274103.1:p.Gly658AlafsTer?
NM_001351295.2:c.2039del	NP_001338224.1:p.Gly680AlafsTer?
NM_001351296.2:c.1970del	NP_001338225.1:p.Gly657AlafsTer?
NM_001351297.2:c.1970del	NP_001338226.1:p.Gly657AlafsTer?
NR_147094.2:n.2039del
NM_001287174.3:c.1973del	NP_001274103.1:p.Gly658AlafsTer?