Canonical Allele Identifier: CA1955123446
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396035_17396036delinsTC , CM000673.2:g.17396035_17396036delinsTC GRCh38
NC_000011.9:g.17417582_17417583delinsTC , CM000673.1:g.17417582_17417583delinsTC GRCh37
NC_000011.8:g.17374158_17374159delinsTC NCBI36
NG_008867.1:g.85867_85868delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3721-106_3721-105delinsGA
ENST00000528374.2:c.711-106_711-105delinsGA
ENST00000529967.6:n.2459-106_2459-105delinsGA
ENST00000532220.2:n.3247_3248delinsGA
ENST00000642611.2:n.5214_5215delinsGA
ENST00000644057.2:n.563-106_563-105delinsGA
ENST00000645004.2:n.1619-106_1619-105delinsGA
ENST00000682051.1:n.4282-106_4282-105delinsGA
ENST00000682110.1:n.4335-106_4335-105delinsGA
ENST00000682140.1:c.3986-106_3986-105delinsGA ENSP00000507829.1:n.3986-106_3986-105delinsGA
ENST00000682185.1:n.5425-106_5425-105delinsGA
ENST00000682204.1:c.*2258-106_*2258-105delinsGA ENSP00000507094.1:n.*2258-106_*2258-105delinsGA
ENST00000682215.1:n.4702-106_4702-105delinsGA
ENST00000682288.1:c.*2551-106_*2551-105delinsGA ENSP00000507506.1:n.*2551-106_*2551-105delinsGA
ENST00000682442.1:n.4555-106_4555-105delinsGA
ENST00000682528.1:n.4412-106_4412-105delinsGA
ENST00000682673.1:n.4279-106_4279-105delinsGA
ENST00000682805.1:n.4740-106_4740-105delinsGA
ENST00000682965.1:c.*542-106_*542-105delinsGA ENSP00000508229.1:n.*542-106_*542-105delinsGA
ENST00000683093.1:n.5313_5314delinsGA
ENST00000683136.1:c.4003-106_4003-105delinsGA ENSP00000507768.1:n.4003-106_4003-105delinsGA
ENST00000683153.1:n.4377-106_4377-105delinsGA
ENST00000683365.1:n.4437-106_4437-105delinsGA
ENST00000683377.1:n.4335-106_4335-105delinsGA
ENST00000683456.1:c.*1257-106_*1257-105delinsGA ENSP00000508318.1:n.*1257-106_*1257-105delinsGA
ENST00000683522.1:n.4335-106_4335-105delinsGA
ENST00000683562.1:c.*2289-106_*2289-105delinsGA ENSP00000508265.1:n.*2289-106_*2289-105delinsGA
ENST00000683693.1:n.5661_5662delinsGA
ENST00000683725.1:c.4120-106_4120-105delinsGA ENSP00000507496.1:n.4120-106_4120-105delinsGA
ENST00000684010.1:n.4330-106_4330-105delinsGA
ENST00000684157.1:n.5214_5215delinsGA
ENST00000684253.1:n.4238-106_4238-105delinsGA
ENST00000684288.1:c.*2292-106_*2292-105delinsGA ENSP00000507143.1:n.*2292-106_*2292-105delinsGA
ENST00000684313.1:n.3767-106_3767-105delinsGA
ENST00000684332.1:n.4408-106_4408-105delinsGA
ENST00000684371.1:n.4441-106_4441-105delinsGA
ENST00000684404.1:n.5257_5258delinsGA
ENST00000684442.1:n.4559-106_4559-105delinsGA
ENST00000684555.1:c.*2332-106_*2332-105delinsGA ENSP00000507705.1:n.*2332-106_*2332-105delinsGA
ENST00000684571.1:c.3961-106_3961-105delinsGA ENSP00000506935.1:n.3961-106_3961-105delinsGA
ENST00000684593.1:c.*3825-106_*3825-105delinsGA ENSP00000507005.1:n.*3825-106_*3825-105delinsGA
ENST00000684711.1:c.*2516-106_*2516-105delinsGA ENSP00000506841.1:n.*2516-106_*2516-105delinsGA
ENST00000302539.9:c.4123-106_4123-105delinsGA ENSP00000303960.4:n.4123-106_4123-105delinsGA
ENST00000389817.8:c.4120-106_4120-105delinsGA MANE Select ENSP00000374467.4:n.4120-106_4120-105delinsGA
ENST00000642271.1:c.4117-106_4117-105delinsGA ENSP00000493749.1:n.4117-106_4117-105delinsGA
ENST00000642579.1:c.2174-106_2174-105delinsGA
ENST00000642611.1:n.5099_5100delinsGA
ENST00000642902.1:c.3902-106_3902-105delinsGA
ENST00000643260.1:c.4120-106_4120-105delinsGA ENSP00000494450.1:n.4120-106_4120-105delinsGA
ENST00000643562.1:c.*2242-106_*2242-105delinsGA ENSP00000496124.1:n.*2242-106_*2242-105delinsGA
ENST00000643925.1:c.2760-106_2760-105delinsGA
ENST00000644057.1:n.197-106_197-105delinsGA
ENST00000644484.1:c.*3400_*3401delinsGA ENSP00000493558.1:n.*3400_*3401delinsGA
ENST00000644675.1:c.*2292-106_*2292-105delinsGA ENSP00000494567.1:n.*2292-106_*2292-105delinsGA
ENST00000644757.1:c.*3202+228_*3202+229delinsGA ENSP00000495085.1:n.*3202+228_*3202+229delinsGA
ENST00000644772.1:c.4186-106_4186-105delinsGA ENSP00000494321.1:n.4186-106_4186-105delinsGA
ENST00000645004.1:n.1813-106_1813-105delinsGA
ENST00000645076.1:c.3319-106_3319-105delinsGA
ENST00000645417.1:c.1308-106_1308-105delinsGA
ENST00000645744.1:c.*3779_*3780delinsGA ENSP00000494564.1:n.*3779_*3780delinsGA
ENST00000645760.1:c.4541-106_4541-105delinsGA
ENST00000645884.1:c.*1403-106_*1403-105delinsGA ENSP00000495516.1:n.*1403-106_*1403-105delinsGA
ENST00000646003.1:c.*2222-106_*2222-105delinsGA ENSP00000495259.1:n.*2222-106_*2222-105delinsGA
ENST00000646207.1:c.*2957-106_*2957-105delinsGA ENSP00000495025.1:n.*2957-106_*2957-105delinsGA
ENST00000646276.1:c.*3418_*3419delinsGA ENSP00000496070.1:n.*3418_*3419delinsGA
ENST00000646592.1:c.3426-106_3426-105delinsGA
ENST00000646902.1:c.4087-106_4087-105delinsGA ENSP00000494101.1:n.4087-106_4087-105delinsGA
ENST00000646993.1:c.*2662-106_*2662-105delinsGA ENSP00000493720.1:n.*2662-106_*2662-105delinsGA
ENST00000647013.1:c.4126-106_4126-105delinsGA ENSP00000496741.1:n.4126-106_4126-105delinsGA
ENST00000647015.1:c.3871-106_3871-105delinsGA ENSP00000495389.1:n.3871-106_3871-105delinsGA
ENST00000647086.1:c.*3706-106_*3706-105delinsGA ENSP00000493677.1:n.*3706-106_*3706-105delinsGA
ENST00000647158.1:c.*2407-106_*2407-105delinsGA ENSP00000495744.1:n.*2407-106_*2407-105delinsGA
ENST00000302539.8:c.4123-106_4123-105delinsGA ENSP00000303960.4:n.4123-106_4123-105delinsGA
ENST00000389817.7:c.4120-106_4120-105delinsGA ENSP00000374467.3:n.4120-106_4120-105delinsGA
ENST00000528374.1:c.602-106_602-105delinsGA
ENST00000532220.1:n.594-106_594-105delinsGA
NM_000352.4:c.4120-106_4120-105delinsGA NP_000343.2:n.4120-106_4120-105delinsGA
NM_001287174.1:c.4123-106_4123-105delinsGA NP_001274103.1:n.4123-106_4123-105delinsGA
XM_011520331.1:c.4120-106_4120-105delinsGA XP_011518633.1:n.4120-106_4120-105delinsGA
XM_011520332.1:c.4123-106_4123-105delinsGA XP_011518634.1:n.4123-106_4123-105delinsGA
XM_011520333.1:c.2620-106_2620-105delinsGA XP_011518635.1:n.2620-106_2620-105delinsGA
XR_930890.1:n.4186-106_4186-105delinsGA
NM_001351295.1:c.4186-106_4186-105delinsGA NP_001338224.1:n.4186-106_4186-105delinsGA
NM_001351296.1:c.4120-106_4120-105delinsGA NP_001338225.1:n.4120-106_4120-105delinsGA
NM_001351297.1:c.4117-106_4117-105delinsGA NP_001338226.1:n.4117-106_4117-105delinsGA
NR_147094.1:n.4415-106_4415-105delinsGA
XM_017018197.2:c.4189-106_4189-105delinsGA XP_016873686.1:n.4189-106_4189-105delinsGA
XM_017018199.1:c.4186-106_4186-105delinsGA XP_016873688.1:n.4186-106_4186-105delinsGA
XM_017018201.2:c.4189-106_4189-105delinsGA XP_016873690.1:n.4189-106_4189-105delinsGA
XM_017018202.1:c.2686-106_2686-105delinsGA XP_016873691.1:n.2686-106_2686-105delinsGA
XM_017018204.1:c.2077-106_2077-105delinsGA XP_016873693.1:n.2077-106_2077-105delinsGA
XM_024448668.1:c.2488-106_2488-105delinsGA XP_024304436.1:n.2488-106_2488-105delinsGA
XR_001747945.2:n.4261-106_4261-105delinsGA
XR_001747946.2:n.4192-106_4192-105delinsGA
XR_002957189.1:n.5736_5737delinsGA
NM_000352.6:c.4120-106_4120-105delinsGA MANE Select NP_000343.2:n.4120-106_4120-105delinsGA
NM_001287174.2:c.4123-106_4123-105delinsGA NP_001274103.1:n.4123-106_4123-105delinsGA
NM_001351295.2:c.4186-106_4186-105delinsGA NP_001338224.1:n.4186-106_4186-105delinsGA
NM_001351296.2:c.4120-106_4120-105delinsGA NP_001338225.1:n.4120-106_4120-105delinsGA
NM_001351297.2:c.4117-106_4117-105delinsGA NP_001338226.1:n.4117-106_4117-105delinsGA
NR_147094.2:n.4415-106_4415-105delinsGA
NM_001287174.3:c.4123-106_4123-105delinsGA NP_001274103.1:n.4123-106_4123-105delinsGA