Canonical Allele Identifier: CA912971900
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404619_17404621del , CM000673.2:g.17404619_17404621del GRCh38
NC_000011.9:g.17426166_17426168del , CM000673.1:g.17426166_17426168del GRCh37
NC_000011.8:g.17382742_17382744del NCBI36
NG_008867.1:g.77282_77284del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3017_3019del
ENST00000528374.2:c.27_29del
ENST00000529967.6:n.1787_1789del
ENST00000532220.2:n.1180_1182del
ENST00000642611.2:n.3517_3519del
ENST00000645004.2:n.947_949del
ENST00000682051.1:n.3464_3466del
ENST00000682110.1:n.3517_3519del
ENST00000682140.1:c.3445_3447del ENSP00000507829.1:p.Val1149del
ENST00000682185.1:n.4753_4755del
ENST00000682204.1:c.*1586_*1588del ENSP00000507094.1:n.*1586_*1588del
ENST00000682215.1:n.3514_3516del
ENST00000682288.1:c.*1879_*1881del ENSP00000507506.1:n.*1879_*1881del
ENST00000682442.1:n.3737_3739del
ENST00000682528.1:n.3594_3596del
ENST00000682673.1:n.3461_3463del
ENST00000682805.1:n.3514_3516del
ENST00000682965.1:c.3396+873_3396+875del ENSP00000508229.1:n.3396+873_3396+875del
ENST00000683093.1:n.3616_3618del
ENST00000683136.1:c.3445_3447del ENSP00000507768.1:p.Val1149del
ENST00000683153.1:n.3673_3675del
ENST00000683365.1:n.3619_3621del
ENST00000683377.1:n.3517_3519del
ENST00000683456.1:c.*585_*587del ENSP00000508318.1:n.*585_*587del
ENST00000683522.1:n.3517_3519del
ENST00000683562.1:c.*1617_*1619del ENSP00000508265.1:n.*1617_*1619del
ENST00000683693.1:n.3594_3596del
ENST00000683725.1:c.3448_3450del ENSP00000507496.1:p.Val1150del
ENST00000684010.1:n.3512_3514del
ENST00000684157.1:n.3517_3519del
ENST00000684253.1:n.3420_3422del
ENST00000684288.1:c.*1620_*1622del ENSP00000507143.1:n.*1620_*1622del
ENST00000684313.1:n.2949_2951del
ENST00000684332.1:n.3590_3592del
ENST00000684371.1:n.3623_3625del
ENST00000684404.1:n.3560_3562del
ENST00000684442.1:n.3517_3519del
ENST00000684555.1:c.*1660_*1662del ENSP00000507705.1:n.*1660_*1662del
ENST00000684571.1:c.3289_3291del ENSP00000506935.1:p.Val1097del
ENST00000684593.1:c.*3153_*3155del ENSP00000507005.1:n.*3153_*3155del
ENST00000684711.1:c.*1844_*1846del ENSP00000506841.1:n.*1844_*1846del
ENST00000302539.9:c.3451_3453del ENSP00000303960.4:p.Val1151del
ENST00000389817.8:c.3448_3450del MANE Select ENSP00000374467.4:p.Val1150del
ENST00000642271.1:c.3445_3447del ENSP00000493749.1:p.Val1149del
ENST00000642579.1:c.1532_1534del
ENST00000642611.1:n.3402_3404del
ENST00000642902.1:c.3230_3232del
ENST00000643260.1:c.3448_3450del ENSP00000494450.1:p.Val1150del
ENST00000643562.1:c.*1424_*1426del ENSP00000496124.1:n.*1424_*1426del
ENST00000643925.1:c.1572_1574del
ENST00000644447.1:c.1804_1806del ENSP00000496282.1:p.Val602del
ENST00000644484.1:c.*1703_*1705del ENSP00000493558.1:n.*1703_*1705del
ENST00000644675.1:c.*1620_*1622del ENSP00000494567.1:n.*1620_*1622del
ENST00000644757.1:c.*1733_*1735del ENSP00000495085.1:n.*1733_*1735del
ENST00000644772.1:c.3514_3516del ENSP00000494321.1:p.Val1172del
ENST00000645004.1:n.587_589del
ENST00000645076.1:c.2647_2649del
ENST00000645417.1:c.614_616del
ENST00000645744.1:c.*1712_*1714del ENSP00000494564.1:n.*1712_*1714del
ENST00000645760.1:c.3723_3725del
ENST00000645884.1:c.*585_*587del ENSP00000495516.1:n.*585_*587del
ENST00000646003.1:c.*1404_*1406del ENSP00000495259.1:n.*1404_*1406del
ENST00000646207.1:c.*1915_*1917del ENSP00000495025.1:n.*1915_*1917del
ENST00000646276.1:c.*1721_*1723del ENSP00000496070.1:n.*1721_*1723del
ENST00000646592.1:c.2754_2756del
ENST00000646902.1:c.3445_3447del ENSP00000494101.1:p.Val1149del
ENST00000646993.1:c.*1844_*1846del ENSP00000493720.1:n.*1844_*1846del
ENST00000647013.1:c.3454_3456del ENSP00000496741.1:n.3454_3456del
ENST00000647015.1:c.3199_3201del ENSP00000495389.1:p.Val1067del
ENST00000647086.1:c.*3178_*3180del ENSP00000493677.1:n.*3178_*3180del
ENST00000647158.1:c.*1589_*1591del ENSP00000495744.1:n.*1589_*1591del
ENST00000302539.8:c.3451_3453del ENSP00000303960.4:p.Val1151del
ENST00000389817.7:c.3448_3450del ENSP00000374467.3:p.Val1150del
ENST00000524561.1:n.580_582del
ENST00000527905.5:c.*324_*326del ENSP00000431653.1:n.*324_*326del
NM_000352.4:c.3448_3450del NP_000343.2:p.Val1150del
NM_001287174.1:c.3451_3453del NP_001274103.1:p.Val1151del
XM_011520331.1:c.3448_3450del XP_011518633.1:p.Val1150del
XM_011520332.1:c.3451_3453del XP_011518634.1:p.Val1151del
XM_011520333.1:c.1948_1950del XP_011518635.1:p.Val650del
XR_930890.1:n.3514_3516del
XR_930892.1:n.3414_3416del
XR_930893.1:n.3411_3413del
NM_001351295.1:c.3514_3516del NP_001338224.1:p.Val1172del
NM_001351296.1:c.3448_3450del NP_001338225.1:p.Val1150del
NM_001351297.1:c.3445_3447del NP_001338226.1:p.Val1149del
NR_147094.1:n.3597_3599del
XM_017018197.2:c.3517_3519del XP_016873686.1:p.Val1173del
XM_017018199.1:c.3514_3516del XP_016873688.1:p.Val1172del
XM_017018201.2:c.3517_3519del XP_016873690.1:p.Val1173del
XM_017018202.1:c.2014_2016del XP_016873691.1:p.Val672del
XM_017018204.1:c.1405_1407del XP_016873693.1:p.Val469del
XM_024448668.1:c.1816_1818del XP_024304436.1:p.Val606del
XR_001747945.2:n.3589_3591del
XR_001747946.2:n.3520_3522del
XR_002957189.1:n.3669_3671del
NM_000352.6:c.3448_3450del MANE Select NP_000343.2:p.Val1150del
NM_001287174.2:c.3451_3453del NP_001274103.1:p.Val1151del
NM_001351295.2:c.3514_3516del NP_001338224.1:p.Val1172del
NM_001351296.2:c.3448_3450del NP_001338225.1:p.Val1150del
NM_001351297.2:c.3445_3447del NP_001338226.1:p.Val1149del
NR_147094.2:n.3597_3599del
NM_001287174.3:c.3451_3453del NP_001274103.1:p.Val1151del