Canonical Allele Identifier: CA2695201090

Gene: ABCC8

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17414577_17414599del , CM000673.2:g.17414577_17414599del	GRCh38
NC_000011.9:g.17436124_17436146del , CM000673.1:g.17436124_17436146del	GRCh37
NC_000011.8:g.17392700_17392722del	NCBI36
NG_008867.1:g.67306_67328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1974_1996del
ENST00000529967.6:n.564_586del
ENST00000642611.2:n.2374_2396del
ENST00000682051.1:n.2321_2343del
ENST00000682110.1:n.2374_2396del
ENST00000682140.1:c.2302_2324del	ENSP00000507829.1:p.Val768MetfsTer14
ENST00000682185.1:n.3610_3632del
ENST00000682204.1:c.*443_*465del	ENSP00000507094.1:n.*443_*465del
ENST00000682215.1:n.2371_2393del
ENST00000682288.1:c.*736_*758del	ENSP00000507506.1:n.*736_*758del
ENST00000682442.1:n.2495_2517del
ENST00000682528.1:n.2371_2393del
ENST00000682673.1:n.2318_2340del
ENST00000682805.1:n.2371_2393del
ENST00000682965.1:c.2302_2324del	ENSP00000508229.1:p.Val768MetfsTer14
ENST00000683093.1:n.2473_2495del
ENST00000683136.1:c.2302_2324del	ENSP00000507768.1:p.Val768MetfsTer14
ENST00000683153.1:n.2530_2552del
ENST00000683365.1:n.2476_2498del
ENST00000683377.1:n.2374_2396del
ENST00000683456.1:c.2305_2327del	ENSP00000508318.1:p.Val769MetfsTer14
ENST00000683522.1:n.2374_2396del
ENST00000683562.1:c.*474_*496del	ENSP00000508265.1:n.*474_*496del
ENST00000683693.1:n.2371_2393del
ENST00000683725.1:c.2305_2327del	ENSP00000507496.1:p.Val769MetfsTer14
ENST00000684010.1:n.2374_2396del
ENST00000684157.1:n.2374_2396del
ENST00000684253.1:n.2277_2299del
ENST00000684288.1:c.*477_*499del	ENSP00000507143.1:n.*477_*499del
ENST00000684313.1:n.1806_1828del
ENST00000684332.1:n.2447_2469del
ENST00000684371.1:n.2480_2502del
ENST00000684404.1:n.2371_2393del
ENST00000684442.1:n.2374_2396del
ENST00000684555.1:c.*517_*539del	ENSP00000507705.1:n.*517_*539del
ENST00000684571.1:c.2146_2168del	ENSP00000506935.1:p.Val716MetfsTer14
ENST00000684593.1:c.*2010_*2032del	ENSP00000507005.1:n.*2010_*2032del
ENST00000684711.1:c.*701_*723del	ENSP00000506841.1:n.*701_*723del
ENST00000302539.9:c.2308_2330del	ENSP00000303960.4:p.Val770MetfsTer14
ENST00000389817.8:c.2305_2327del MANE Select	ENSP00000374467.4:p.Val769MetfsTer14
ENST00000642271.1:c.2302_2324del	ENSP00000493749.1:p.Val768MetfsTer14
ENST00000642579.1:c.389_411del
ENST00000642611.1:n.2259_2281del
ENST00000642902.1:c.2140_2162del
ENST00000643260.1:c.2305_2327del	ENSP00000494450.1:p.Val769MetfsTer14
ENST00000643562.1:c.*281_*303del	ENSP00000496124.1:n.*281_*303del
ENST00000643925.1:c.245_267del
ENST00000644447.1:c.661_683del	ENSP00000496282.1:p.Val221MetfsTer14
ENST00000644472.1:c.*666_*688del	ENSP00000495378.1:n.*666_*688del
ENST00000644484.1:c.*514_*536del	ENSP00000493558.1:n.*514_*536del
ENST00000644542.1:c.*2010_*2032del	ENSP00000495532.1:n.*2010_*2032del
ENST00000644675.1:c.*477_*499del	ENSP00000494567.1:n.*477_*499del
ENST00000644757.1:c.*610_*632del	ENSP00000495085.1:n.*610_*632del
ENST00000644772.1:c.2371_2393del	ENSP00000494321.1:p.Val791MetfsTer14
ENST00000645076.1:c.1557_1579del
ENST00000645744.1:c.*669_*691del	ENSP00000494564.1:n.*669_*691del
ENST00000645760.1:c.2580_2602del
ENST00000645884.1:c.2305_2327del	ENSP00000495516.1:p.Val769MetfsTer14
ENST00000646003.1:c.*446_*468del	ENSP00000495259.1:n.*446_*468del
ENST00000646207.1:c.*669_*691del	ENSP00000495025.1:n.*669_*691del
ENST00000646276.1:c.*578_*600del	ENSP00000496070.1:n.*578_*600del
ENST00000646592.1:c.1531_1553del
ENST00000646902.1:c.2302_2324del	ENSP00000494101.1:p.Val768MetfsTer14
ENST00000646993.1:c.*701_*723del	ENSP00000493720.1:n.*701_*723del
ENST00000647013.1:c.2311_2333del	ENSP00000496741.1:n.2311_2333del
ENST00000647015.1:c.2056_2078del	ENSP00000495389.1:p.Val686MetfsTer14
ENST00000647086.1:c.*2035_*2057del	ENSP00000493677.1:n.*2035_*2057del
ENST00000647158.1:c.*446_*468del	ENSP00000495744.1:n.*446_*468del
ENST00000302539.8:c.2308_2330del	ENSP00000303960.4:p.Val770MetfsTer14
ENST00000389817.7:c.2305_2327del	ENSP00000374467.3:p.Val769MetfsTer14
ENST00000527905.5:c.2275_2297del	ENSP00000431653.1:p.Val759MetfsTer14
ENST00000531911.1:n.419_441del
NM_000352.4:c.2305_2327del	NP_000343.2:p.Val769MetfsTer14
NM_001287174.1:c.2308_2330del	NP_001274103.1:p.Val770MetfsTer14
XM_011520331.1:c.2305_2327del	XP_011518633.1:p.Val769MetfsTer14
XM_011520332.1:c.2308_2330del	XP_011518634.1:p.Val770MetfsTer14
XM_011520333.1:c.805_827del	XP_011518635.1:p.Val269MetfsTer14
XM_011520334.1:c.2308_2330del	XP_011518636.1:p.Val770MetfsTer14
XR_930890.1:n.2371_2393del
XR_930891.1:n.2371_2393del
XR_930892.1:n.2371_2393del
XR_930893.1:n.2368_2390del
NM_001351295.1:c.2371_2393del	NP_001338224.1:p.Val791MetfsTer14
NM_001351296.1:c.2305_2327del	NP_001338225.1:p.Val769MetfsTer14
NM_001351297.1:c.2302_2324del	NP_001338226.1:p.Val768MetfsTer14
NR_147094.1:n.2374_2396del
XM_017018197.2:c.2374_2396del	XP_016873686.1:p.Val792MetfsTer14
XM_017018199.1:c.2371_2393del	XP_016873688.1:p.Val791MetfsTer14
XM_017018201.2:c.2374_2396del	XP_016873690.1:p.Val792MetfsTer14
XM_017018202.1:c.871_893del	XP_016873691.1:p.Val291MetfsTer14
XM_017018204.1:c.262_284del	XP_016873693.1:p.Val88MetfsTer14
XM_024448668.1:c.673_695del	XP_024304436.1:p.Val225MetfsTer14
XR_001747945.2:n.2446_2468del
XR_001747946.2:n.2377_2399del
XR_002957189.1:n.2446_2468del
NM_000352.6:c.2305_2327del MANE Select	NP_000343.2:p.Val769MetfsTer14
NM_001287174.2:c.2308_2330del	NP_001274103.1:p.Val770MetfsTer14
NM_001351295.2:c.2371_2393del	NP_001338224.1:p.Val791MetfsTer14
NM_001351296.2:c.2305_2327del	NP_001338225.1:p.Val769MetfsTer14
NM_001351297.2:c.2302_2324del	NP_001338226.1:p.Val768MetfsTer14
NR_147094.2:n.2374_2396del
NM_001287174.3:c.2308_2330del	NP_001274103.1:p.Val770MetfsTer14