Canonical Allele Identifier: CA1955127654
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404711_17404713delinsTTG , CM000673.2:g.17404711_17404713delinsTTG GRCh38
NC_000011.9:g.17426258_17426260delinsTTG , CM000673.1:g.17426258_17426260delinsTTG GRCh37
NC_000011.8:g.17382834_17382836delinsTTG NCBI36
NG_008867.1:g.77190_77192delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2969-44_2969-42delinsCAA
ENST00000529967.6:n.1739-44_1739-42delinsCAA
ENST00000532220.2:n.1132-44_1132-42delinsCAA
ENST00000642611.2:n.3469-44_3469-42delinsCAA
ENST00000645004.2:n.899-44_899-42delinsCAA
ENST00000682051.1:n.3416-44_3416-42delinsCAA
ENST00000682110.1:n.3469-44_3469-42delinsCAA
ENST00000682140.1:c.3397-44_3397-42delinsCAA ENSP00000507829.1:n.3397-44_3397-42delinsCAA
ENST00000682185.1:n.4705-44_4705-42delinsCAA
ENST00000682204.1:c.*1538-44_*1538-42delinsCAA ENSP00000507094.1:n.*1538-44_*1538-42delinsCAA
ENST00000682215.1:n.3466-44_3466-42delinsCAA
ENST00000682288.1:c.*1831-44_*1831-42delinsCAA ENSP00000507506.1:n.*1831-44_*1831-42delinsCAA
ENST00000682442.1:n.3689-44_3689-42delinsCAA
ENST00000682528.1:n.3546-44_3546-42delinsCAA
ENST00000682673.1:n.3413-44_3413-42delinsCAA
ENST00000682805.1:n.3466-44_3466-42delinsCAA
ENST00000682965.1:c.3396+781_3396+783delinsCAA ENSP00000508229.1:n.3396+781_3396+783delinsCAA
ENST00000683093.1:n.3568-44_3568-42delinsCAA
ENST00000683136.1:c.3397-44_3397-42delinsCAA ENSP00000507768.1:n.3397-44_3397-42delinsCAA
ENST00000683153.1:n.3625-44_3625-42delinsCAA
ENST00000683365.1:n.3571-44_3571-42delinsCAA
ENST00000683377.1:n.3469-44_3469-42delinsCAA
ENST00000683456.1:c.*537-44_*537-42delinsCAA ENSP00000508318.1:n.*537-44_*537-42delinsCAA
ENST00000683522.1:n.3469-44_3469-42delinsCAA
ENST00000683562.1:c.*1569-44_*1569-42delinsCAA ENSP00000508265.1:n.*1569-44_*1569-42delinsCAA
ENST00000683693.1:n.3546-44_3546-42delinsCAA
ENST00000683725.1:c.3400-44_3400-42delinsCAA ENSP00000507496.1:n.3400-44_3400-42delinsCAA
ENST00000684010.1:n.3464-44_3464-42delinsCAA
ENST00000684157.1:n.3469-44_3469-42delinsCAA
ENST00000684253.1:n.3372-44_3372-42delinsCAA
ENST00000684288.1:c.*1572-44_*1572-42delinsCAA ENSP00000507143.1:n.*1572-44_*1572-42delinsCAA
ENST00000684313.1:n.2901-44_2901-42delinsCAA
ENST00000684332.1:n.3542-44_3542-42delinsCAA
ENST00000684371.1:n.3575-44_3575-42delinsCAA
ENST00000684404.1:n.3512-44_3512-42delinsCAA
ENST00000684442.1:n.3469-44_3469-42delinsCAA
ENST00000684555.1:c.*1612-44_*1612-42delinsCAA ENSP00000507705.1:n.*1612-44_*1612-42delinsCAA
ENST00000684571.1:c.3241-44_3241-42delinsCAA ENSP00000506935.1:n.3241-44_3241-42delinsCAA
ENST00000684593.1:c.*3105-44_*3105-42delinsCAA ENSP00000507005.1:n.*3105-44_*3105-42delinsCAA
ENST00000684711.1:c.*1796-44_*1796-42delinsCAA ENSP00000506841.1:n.*1796-44_*1796-42delinsCAA
ENST00000302539.9:c.3403-44_3403-42delinsCAA ENSP00000303960.4:n.3403-44_3403-42delinsCAA
ENST00000389817.8:c.3400-44_3400-42delinsCAA MANE Select ENSP00000374467.4:n.3400-44_3400-42delinsCAA
ENST00000642271.1:c.3397-44_3397-42delinsCAA ENSP00000493749.1:n.3397-44_3397-42delinsCAA
ENST00000642579.1:c.1484-44_1484-42delinsCAA
ENST00000642611.1:n.3354-44_3354-42delinsCAA
ENST00000642902.1:c.3182-44_3182-42delinsCAA
ENST00000643260.1:c.3400-44_3400-42delinsCAA ENSP00000494450.1:n.3400-44_3400-42delinsCAA
ENST00000643562.1:c.*1376-44_*1376-42delinsCAA ENSP00000496124.1:n.*1376-44_*1376-42delinsCAA
ENST00000643925.1:c.1524-44_1524-42delinsCAA
ENST00000644447.1:c.1756-44_1756-42delinsCAA ENSP00000496282.1:n.1756-44_1756-42delinsCAA
ENST00000644484.1:c.*1655-44_*1655-42delinsCAA ENSP00000493558.1:n.*1655-44_*1655-42delinsCAA
ENST00000644675.1:c.*1572-44_*1572-42delinsCAA ENSP00000494567.1:n.*1572-44_*1572-42delinsCAA
ENST00000644757.1:c.*1685-44_*1685-42delinsCAA ENSP00000495085.1:n.*1685-44_*1685-42delinsCAA
ENST00000644772.1:c.3466-44_3466-42delinsCAA ENSP00000494321.1:n.3466-44_3466-42delinsCAA
ENST00000645004.1:n.539-44_539-42delinsCAA
ENST00000645076.1:c.2599-44_2599-42delinsCAA
ENST00000645417.1:c.566-44_566-42delinsCAA
ENST00000645744.1:c.*1664-44_*1664-42delinsCAA ENSP00000494564.1:n.*1664-44_*1664-42delinsCAA
ENST00000645760.1:c.3675-44_3675-42delinsCAA
ENST00000645884.1:c.*537-44_*537-42delinsCAA ENSP00000495516.1:n.*537-44_*537-42delinsCAA
ENST00000646003.1:c.*1356-44_*1356-42delinsCAA ENSP00000495259.1:n.*1356-44_*1356-42delinsCAA
ENST00000646207.1:c.*1867-44_*1867-42delinsCAA ENSP00000495025.1:n.*1867-44_*1867-42delinsCAA
ENST00000646276.1:c.*1673-44_*1673-42delinsCAA ENSP00000496070.1:n.*1673-44_*1673-42delinsCAA
ENST00000646592.1:c.2706-44_2706-42delinsCAA
ENST00000646902.1:c.3397-44_3397-42delinsCAA ENSP00000494101.1:n.3397-44_3397-42delinsCAA
ENST00000646993.1:c.*1796-44_*1796-42delinsCAA ENSP00000493720.1:n.*1796-44_*1796-42delinsCAA
ENST00000647013.1:c.3406-44_3406-42delinsCAA ENSP00000496741.1:n.3406-44_3406-42delinsCAA
ENST00000647015.1:c.3151-44_3151-42delinsCAA ENSP00000495389.1:n.3151-44_3151-42delinsCAA
ENST00000647086.1:c.*3130-44_*3130-42delinsCAA ENSP00000493677.1:n.*3130-44_*3130-42delinsCAA
ENST00000647158.1:c.*1541-44_*1541-42delinsCAA ENSP00000495744.1:n.*1541-44_*1541-42delinsCAA
ENST00000302539.8:c.3403-44_3403-42delinsCAA ENSP00000303960.4:n.3403-44_3403-42delinsCAA
ENST00000389817.7:c.3400-44_3400-42delinsCAA ENSP00000374467.3:n.3400-44_3400-42delinsCAA
ENST00000524561.1:n.532-44_532-42delinsCAA
ENST00000527905.5:c.*276-44_*276-42delinsCAA ENSP00000431653.1:n.*276-44_*276-42delinsCAA
NM_000352.4:c.3400-44_3400-42delinsCAA NP_000343.2:n.3400-44_3400-42delinsCAA
NM_001287174.1:c.3403-44_3403-42delinsCAA NP_001274103.1:n.3403-44_3403-42delinsCAA
XM_011520331.1:c.3400-44_3400-42delinsCAA XP_011518633.1:n.3400-44_3400-42delinsCAA
XM_011520332.1:c.3403-44_3403-42delinsCAA XP_011518634.1:n.3403-44_3403-42delinsCAA
XM_011520333.1:c.1900-44_1900-42delinsCAA XP_011518635.1:n.1900-44_1900-42delinsCAA
XR_930890.1:n.3466-44_3466-42delinsCAA
XR_930891.1:n.3467-44_3467-42delinsCAA
XR_930892.1:n.3366-44_3366-42delinsCAA
XR_930893.1:n.3363-44_3363-42delinsCAA
NM_001351295.1:c.3466-44_3466-42delinsCAA NP_001338224.1:n.3466-44_3466-42delinsCAA
NM_001351296.1:c.3400-44_3400-42delinsCAA NP_001338225.1:n.3400-44_3400-42delinsCAA
NM_001351297.1:c.3397-44_3397-42delinsCAA NP_001338226.1:n.3397-44_3397-42delinsCAA
NR_147094.1:n.3549-44_3549-42delinsCAA
XM_017018197.2:c.3469-44_3469-42delinsCAA XP_016873686.1:n.3469-44_3469-42delinsCAA
XM_017018199.1:c.3466-44_3466-42delinsCAA XP_016873688.1:n.3466-44_3466-42delinsCAA
XM_017018201.2:c.3469-44_3469-42delinsCAA XP_016873690.1:n.3469-44_3469-42delinsCAA
XM_017018202.1:c.1966-44_1966-42delinsCAA XP_016873691.1:n.1966-44_1966-42delinsCAA
XM_017018204.1:c.1357-44_1357-42delinsCAA XP_016873693.1:n.1357-44_1357-42delinsCAA
XM_024448668.1:c.1768-44_1768-42delinsCAA XP_024304436.1:n.1768-44_1768-42delinsCAA
XR_001747945.2:n.3541-44_3541-42delinsCAA
XR_001747946.2:n.3472-44_3472-42delinsCAA
XR_002957189.1:n.3621-44_3621-42delinsCAA
NM_000352.6:c.3400-44_3400-42delinsCAA MANE Select NP_000343.2:n.3400-44_3400-42delinsCAA
NM_001287174.2:c.3403-44_3403-42delinsCAA NP_001274103.1:n.3403-44_3403-42delinsCAA
NM_001351295.2:c.3466-44_3466-42delinsCAA NP_001338224.1:n.3466-44_3466-42delinsCAA
NM_001351296.2:c.3400-44_3400-42delinsCAA NP_001338225.1:n.3400-44_3400-42delinsCAA
NM_001351297.2:c.3397-44_3397-42delinsCAA NP_001338226.1:n.3397-44_3397-42delinsCAA
NR_147094.2:n.3549-44_3549-42delinsCAA
NM_001287174.3:c.3403-44_3403-42delinsCAA NP_001274103.1:n.3403-44_3403-42delinsCAA