Canonical Allele Identifier: CA2697548452
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2772157
ClinVar RCV Id: RCV003574602
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17443186_17443195del , CM000673.2:g.17443186_17443195del GRCh38
NC_000011.9:g.17464733_17464742del , CM000673.1:g.17464733_17464742del GRCh37
NC_000011.8:g.17421309_17421318del NCBI36
NG_008867.1:g.38710_38719del

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.1089_1098del
ENST00000526002.2:n.1465_1474del
ENST00000528202.6:n.1518_1527del
ENST00000642611.2:n.1518_1527del
ENST00000682051.1:n.1465_1474del
ENST00000682110.1:n.1518_1527del
ENST00000682140.1:c.1449_1458del ENSP00000507829.1:p.Gln484HisfsTer9
ENST00000682185.1:n.2757_2766del
ENST00000682199.1:n.1518_1527del
ENST00000682204.1:c.1449_1458del ENSP00000507094.1:p.Gln484HisfsTer9
ENST00000682215.1:n.1518_1527del
ENST00000682288.1:c.1449_1458del ENSP00000507506.1:p.Gln484HisfsTer9
ENST00000682442.1:n.1552_1561del
ENST00000682528.1:n.1518_1527del
ENST00000682673.1:n.1465_1474del
ENST00000682805.1:n.1518_1527del
ENST00000682965.1:c.1449_1458del ENSP00000508229.1:p.Gln484HisfsTer9
ENST00000683093.1:n.1518_1527del
ENST00000683136.1:c.1449_1458del ENSP00000507768.1:p.Gln484HisfsTer9
ENST00000683153.1:n.1518_1527del
ENST00000683253.1:n.2432_2441del
ENST00000683365.1:n.1518_1527del
ENST00000683377.1:n.1518_1527del
ENST00000683456.1:c.1449_1458del ENSP00000508318.1:p.Gln484HisfsTer9
ENST00000683522.1:n.1518_1527del
ENST00000683531.1:n.1521_1530del
ENST00000683562.1:c.1452_1461del ENSP00000508265.1:p.Gln485HisfsTer9
ENST00000683693.1:n.1518_1527del
ENST00000683725.1:c.1452_1461del ENSP00000507496.1:p.Gln485HisfsTer9
ENST00000684010.1:n.1518_1527del
ENST00000684157.1:n.1518_1527del
ENST00000684253.1:n.1570_1579del
ENST00000684288.1:c.1452_1461del ENSP00000507143.1:p.Gln485HisfsTer9
ENST00000684313.1:n.1545_1554del
ENST00000684332.1:n.1518_1527del
ENST00000684371.1:n.1465_1474del
ENST00000684404.1:n.1518_1527del
ENST00000684442.1:n.1518_1527del
ENST00000684555.1:c.1452_1461del ENSP00000507705.1:p.Gln485HisfsTer9
ENST00000684571.1:c.1293_1302del ENSP00000506935.1:p.Gln432HisfsTer9
ENST00000684593.1:c.*1157_*1166del ENSP00000507005.1:n.*1157_*1166del
ENST00000684711.1:c.1449_1458del ENSP00000506841.1:p.Gln484HisfsTer9
ENST00000302539.9:c.1452_1461del ENSP00000303960.4:p.Gln485HisfsTer9
ENST00000389817.8:c.1452_1461del MANE Select ENSP00000374467.4:p.Gln485HisfsTer9
ENST00000532728.6:c.1328_1337del
ENST00000635881.1:n.1480_1489del
ENST00000642271.1:c.1449_1458del ENSP00000493749.1:p.Gln484HisfsTer9
ENST00000642611.1:n.1403_1412del
ENST00000642902.1:c.1433_1442del
ENST00000643260.1:c.1449_1458del ENSP00000494450.1:p.Gln484HisfsTer9
ENST00000643562.1:c.1452_1461del ENSP00000496124.1:p.Gln485HisfsTer9
ENST00000644472.1:c.1329+5323_1329+5332del ENSP00000495378.1:n.1329+5323_1329+5332de...
ENST00000644484.1:c.1449_1458del ENSP00000493558.1:p.Gln484HisfsTer9
ENST00000644542.1:c.*1154_*1163del ENSP00000495532.1:n.*1154_*1163del
ENST00000644649.1:c.622_631del
ENST00000644675.1:c.1449_1458del ENSP00000494567.1:p.Gln484HisfsTer9
ENST00000644757.1:c.1452_1461del ENSP00000495085.1:p.Gln485HisfsTer9
ENST00000644772.1:c.1452_1461del ENSP00000494321.1:p.Gln485HisfsTer9
ENST00000645076.1:c.734_743del
ENST00000645744.1:c.1009-10949_1009-10940del ENSP00000494564.1:n.1009-10949_1009-10940...
ENST00000645760.1:c.1625_1634del
ENST00000645884.1:c.1449_1458del ENSP00000495516.1:p.Gln484HisfsTer9
ENST00000646003.1:c.1449_1458del ENSP00000495259.1:p.Gln484HisfsTer9
ENST00000646207.1:c.1449_1458del ENSP00000495025.1:p.Gln484HisfsTer?
ENST00000646276.1:c.1428_1437del ENSP00000496070.1:p.Gln477HisfsTer9
ENST00000646592.1:c.703_712del
ENST00000646902.1:c.1449_1458del ENSP00000494101.1:p.Gln484HisfsTer9
ENST00000646993.1:c.1452_1461del ENSP00000493720.1:p.Gln485HisfsTer9
ENST00000647013.1:c.1350_1359del ENSP00000496741.1:p.Gln451HisfsTer9
ENST00000647015.1:c.1452_1461del ENSP00000495389.1:p.Gln485HisfsTer9
ENST00000647086.1:c.1449_1458del ENSP00000493677.1:p.Gln484HisfsTer9
ENST00000647158.1:c.1449_1458del ENSP00000495744.1:p.Gln484HisfsTer9
ENST00000302539.8:c.1452_1461del ENSP00000303960.4:p.Gln485HisfsTer9
ENST00000389817.7:c.1452_1461del ENSP00000374467.3:p.Gln485HisfsTer9
ENST00000526002.1:n.241_250del
ENST00000527905.5:c.1452_1461del ENSP00000431653.1:p.Gln485HisfsTer9
ENST00000532728.5:n.1483_1492del
NM_000352.4:c.1452_1461del NP_000343.2:p.Gln485HisfsTer9
NM_001287174.1:c.1452_1461del NP_001274103.1:p.Gln485HisfsTer9
XM_011520331.1:c.1449_1458del XP_011518633.1:p.Gln484HisfsTer9
XM_011520332.1:c.1452_1461del XP_011518634.1:p.Gln485HisfsTer9
XM_011520333.1:c.-66_-57del XP_011518635.1:n.-66_-57del
XM_011520334.1:c.1452_1461del XP_011518636.1:p.Gln485HisfsTer9
XR_930890.1:n.1515_1524del
XR_930891.1:n.1515_1524del
XR_930892.1:n.1515_1524del
XR_930893.1:n.1515_1524del
NM_001351295.1:c.1452_1461del NP_001338224.1:p.Gln485HisfsTer9
NM_001351296.1:c.1449_1458del NP_001338225.1:p.Gln484HisfsTer9
NM_001351297.1:c.1449_1458del NP_001338226.1:p.Gln484HisfsTer9
NR_147094.1:n.1518_1527del
XM_017018197.2:c.1452_1461del XP_016873686.1:p.Gln485HisfsTer9
XM_017018199.1:c.1449_1458del XP_016873688.1:p.Gln484HisfsTer9
XM_017018201.2:c.1452_1461del XP_016873690.1:p.Gln485HisfsTer9
XM_017018202.1:c.-66_-57del XP_016873691.1:n.-66_-57del
XM_017018204.1:c.-665_-656del XP_016873693.1:n.-665_-656del
XM_024448668.1:c.-286_-277del XP_024304436.1:n.-286_-277del
XR_001747945.2:n.1524_1533del
XR_001747946.2:n.1524_1533del
XR_002957189.1:n.1524_1533del
NM_000352.6:c.1452_1461del MANE Select NP_000343.2:p.Gln485HisfsTer9
NM_001287174.2:c.1452_1461del NP_001274103.1:p.Gln485HisfsTer9
NM_001351295.2:c.1452_1461del NP_001338224.1:p.Gln485HisfsTer9
NM_001351296.2:c.1449_1458del NP_001338225.1:p.Gln484HisfsTer9
NM_001351297.2:c.1449_1458del NP_001338226.1:p.Gln484HisfsTer9
NR_147094.2:n.1518_1527del
NM_001287174.3:c.1452_1461del NP_001274103.1:p.Gln485HisfsTer9
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