Canonical Allele Identifier: CA597904335

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2137018
• ClinVar RCV Id: RCV003058289 ; RCV003465921
• dbSNP Id: rs1360606629
• gnomAD v2: 11-17449942-AC-A
• gnomAD v4: 11-17428395-AC-A
• MyVariant Identifiers: chr11:g.17449943del (hg19) ; chr11:g.17428396del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428398del , CM000673.2:g.17428398del	GRCh38
NC_000011.9:g.17449945del , CM000673.1:g.17449945del	GRCh37
NC_000011.8:g.17406521del	NCBI36
NG_008867.1:g.53507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1602del
ENST00000529967.6:n.192del
ENST00000642611.2:n.1999del
ENST00000682051.1:n.1946del
ENST00000682110.1:n.1999del
ENST00000682140.1:c.1930del	ENSP00000507829.1:p.Val644LeufsTer2
ENST00000682185.1:n.3238del
ENST00000682204.1:c.*71del	ENSP00000507094.1:n.*71del
ENST00000682215.1:n.1999del
ENST00000682288.1:c.*361del	ENSP00000507506.1:n.*361del
ENST00000682442.1:n.2120del
ENST00000682528.1:n.1999del
ENST00000682673.1:n.1946del
ENST00000682805.1:n.1999del
ENST00000682965.1:c.1930del	ENSP00000508229.1:p.Val644LeufsTer2
ENST00000683093.1:n.2101del
ENST00000683136.1:c.1930del	ENSP00000507768.1:p.Val644LeufsTer2
ENST00000683153.1:n.2158del
ENST00000683253.1:n.3015del
ENST00000683365.1:n.2101del
ENST00000683377.1:n.1999del
ENST00000683456.1:c.1930del	ENSP00000508318.1:p.Val644LeufsTer2
ENST00000683522.1:n.1999del
ENST00000683562.1:c.*102del	ENSP00000508265.1:n.*102del
ENST00000683693.1:n.1999del
ENST00000683725.1:c.1933del	ENSP00000507496.1:p.Val645LeufsTer2
ENST00000684010.1:n.1999del
ENST00000684157.1:n.1999del
ENST00000684253.1:n.1905del
ENST00000684288.1:c.*102del	ENSP00000507143.1:n.*102del
ENST00000684313.1:n.1724-11434del
ENST00000684332.1:n.2072del
ENST00000684371.1:n.2105del
ENST00000684404.1:n.1999del
ENST00000684442.1:n.1999del
ENST00000684555.1:c.*142del	ENSP00000507705.1:n.*142del
ENST00000684571.1:c.1774del	ENSP00000506935.1:p.Val592LeufsTer2
ENST00000684593.1:c.*1638del	ENSP00000507005.1:n.*1638del
ENST00000684711.1:c.*329del	ENSP00000506841.1:n.*329del
ENST00000302539.9:c.1933del	ENSP00000303960.4:p.Val645LeufsTer2
ENST00000389817.8:c.1933del MANE Select	ENSP00000374467.4:p.Val645LeufsTer2
ENST00000532728.6:c.1514del
ENST00000642271.1:c.1930del	ENSP00000493749.1:p.Val644LeufsTer2
ENST00000642579.1:c.14del
ENST00000642611.1:n.1884del
ENST00000642902.1:c.1768del
ENST00000643260.1:c.1930del	ENSP00000494450.1:p.Val644LeufsTer2
ENST00000643562.1:c.1925del
ENST00000644447.1:c.286del	ENSP00000496282.1:p.Val96LeufsTer2
ENST00000644472.1:c.*294del	ENSP00000495378.1:n.*294del
ENST00000644484.1:c.*142del	ENSP00000493558.1:n.*142del
ENST00000644542.1:c.*1635del	ENSP00000495532.1:n.*1635del
ENST00000644649.1:c.1103del
ENST00000644675.1:c.*102del	ENSP00000494567.1:n.*102del
ENST00000644757.1:c.*235del	ENSP00000495085.1:n.*235del
ENST00000644772.1:c.1999del	ENSP00000494321.1:p.Val667LeufsTer2
ENST00000645076.1:c.1185del
ENST00000645744.1:c.*294del	ENSP00000494564.1:n.*294del
ENST00000645760.1:c.2208del
ENST00000645884.1:c.1930del	ENSP00000495516.1:p.Val644LeufsTer2
ENST00000646003.1:c.*71del	ENSP00000495259.1:n.*71del
ENST00000646207.1:c.*294del	ENSP00000495025.1:n.*294del
ENST00000646276.1:c.*203del	ENSP00000496070.1:n.*203del
ENST00000646592.1:c.1156del
ENST00000646902.1:c.1930del	ENSP00000494101.1:p.Val644LeufsTer2
ENST00000646993.1:c.*329del	ENSP00000493720.1:n.*329del
ENST00000647013.1:c.1936del	ENSP00000496741.1:n.1936del
ENST00000647015.1:c.1681del	ENSP00000495389.1:p.Val561LeufsTer2
ENST00000647086.1:c.*1660del	ENSP00000493677.1:n.*1660del
ENST00000647158.1:c.*71del	ENSP00000495744.1:n.*71del
ENST00000302539.8:c.1933del	ENSP00000303960.4:p.Val645LeufsTer2
ENST00000389817.7:c.1933del	ENSP00000374467.3:p.Val645LeufsTer2
ENST00000527905.5:c.1903del	ENSP00000431653.1:p.Val635LeufsTer2
NM_000352.4:c.1933del	NP_000343.2:p.Val645LeufsTer2
NM_001287174.1:c.1933del	NP_001274103.1:p.Val645LeufsTer2
XM_011520331.1:c.1930del	XP_011518633.1:p.Val644LeufsTer2
XM_011520332.1:c.1933del	XP_011518634.1:p.Val645LeufsTer2
XM_011520333.1:c.430del	XP_011518635.1:p.Val144LeufsTer2
XM_011520334.1:c.1933del	XP_011518636.1:p.Val645LeufsTer2
XR_930890.1:n.1996del
XR_930891.1:n.1996del
XR_930892.1:n.1996del
XR_930893.1:n.1996del
NM_001351295.1:c.1999del	NP_001338224.1:p.Val667LeufsTer2
NM_001351296.1:c.1930del	NP_001338225.1:p.Val644LeufsTer2
NM_001351297.1:c.1930del	NP_001338226.1:p.Val644LeufsTer2
NR_147094.1:n.1999del
XM_017018197.2:c.1999del	XP_016873686.1:p.Val667LeufsTer2
XM_017018199.1:c.1996del	XP_016873688.1:p.Val666LeufsTer2
XM_017018201.2:c.1999del	XP_016873690.1:p.Val667LeufsTer2
XM_017018202.1:c.496del	XP_016873691.1:p.Val166LeufsTer2
XM_017018204.1:c.-111del	XP_016873693.1:n.-111del
XM_024448668.1:c.298del	XP_024304436.1:p.Val100LeufsTer2
XR_001747945.2:n.2071del
XR_001747946.2:n.2005del
XR_002957189.1:n.2071del
NM_000352.6:c.1933del MANE Select	NP_000343.2:p.Val645LeufsTer2
NM_001287174.2:c.1933del	NP_001274103.1:p.Val645LeufsTer2
NM_001351295.2:c.1999del	NP_001338224.1:p.Val667LeufsTer2
NM_001351296.2:c.1930del	NP_001338225.1:p.Val644LeufsTer2
NM_001351297.2:c.1930del	NP_001338226.1:p.Val644LeufsTer2
NR_147094.2:n.1999del
NM_001287174.3:c.1933del	NP_001274103.1:p.Val645LeufsTer2