Canonical Allele Identifier: CA218408298
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1554905191

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395946_17395949delinsA , CM000673.2:g.17395946_17395949delinsA GRCh38
NC_000011.9:g.17417493_17417496delinsA , CM000673.1:g.17417493_17417496delinsA GRCh37
NC_000011.8:g.17374069_17374072delinsA NCBI36
NG_008867.1:g.85954_85957delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3721-19_3721-16delinsT
ENST00000528374.2:c.711-19_711-16delinsT
ENST00000529967.6:n.2459-19_2459-16delinsT
ENST00000532220.2:n.3334_3337delinsT
ENST00000642611.2:n.5301_5304delinsT
ENST00000644057.2:n.563-19_563-16delinsT
ENST00000645004.2:n.1619-19_1619-16delinsT
ENST00000682051.1:n.4282-19_4282-16delinsT
ENST00000682110.1:n.4335-19_4335-16delinsT
ENST00000682140.1:c.3986-19_3986-16delinsT ENSP00000507829.1:n.3986-19_3986-16delins...
ENST00000682185.1:n.5425-19_5425-16delinsT
ENST00000682204.1:c.*2258-19_*2258-16delinsT ENSP00000507094.1:n.*2258-19_*2258-16deli...
ENST00000682215.1:n.4702-19_4702-16delinsT
ENST00000682288.1:c.*2551-19_*2551-16delinsT ENSP00000507506.1:n.*2551-19_*2551-16deli...
ENST00000682442.1:n.4555-19_4555-16delinsT
ENST00000682528.1:n.4412-19_4412-16delinsT
ENST00000682673.1:n.4279-19_4279-16delinsT
ENST00000682805.1:n.4740-19_4740-16delinsT
ENST00000682965.1:c.*542-19_*542-16delinsT ENSP00000508229.1:n.*542-19_*542-16delins...
ENST00000683093.1:n.5400_5403delinsT
ENST00000683136.1:c.4003-19_4003-16delinsT ENSP00000507768.1:n.4003-19_4003-16delins...
ENST00000683153.1:n.4377-19_4377-16delinsT
ENST00000683365.1:n.4437-19_4437-16delinsT
ENST00000683377.1:n.4335-19_4335-16delinsT
ENST00000683456.1:c.*1257-19_*1257-16delinsT ENSP00000508318.1:n.*1257-19_*1257-16deli...
ENST00000683522.1:n.4335-19_4335-16delinsT
ENST00000683562.1:c.*2289-19_*2289-16delinsT ENSP00000508265.1:n.*2289-19_*2289-16deli...
ENST00000683693.1:n.5748_5751delinsT
ENST00000683725.1:c.4120-19_4120-16delinsT ENSP00000507496.1:n.4120-19_4120-16delins...
ENST00000684010.1:n.4330-19_4330-16delinsT
ENST00000684157.1:n.5301_5304delinsT
ENST00000684253.1:n.4238-19_4238-16delinsT
ENST00000684288.1:c.*2292-19_*2292-16delinsT ENSP00000507143.1:n.*2292-19_*2292-16deli...
ENST00000684313.1:n.3767-19_3767-16delinsT
ENST00000684332.1:n.4408-19_4408-16delinsT
ENST00000684371.1:n.4441-19_4441-16delinsT
ENST00000684404.1:n.5344_5347delinsT
ENST00000684442.1:n.4559-19_4559-16delinsT
ENST00000684555.1:c.*2332-19_*2332-16delinsT ENSP00000507705.1:n.*2332-19_*2332-16deli...
ENST00000684571.1:c.3961-19_3961-16delinsT ENSP00000506935.1:n.3961-19_3961-16delins...
ENST00000684593.1:c.*3825-19_*3825-16delinsT ENSP00000507005.1:n.*3825-19_*3825-16deli...
ENST00000684711.1:c.*2516-19_*2516-16delinsT ENSP00000506841.1:n.*2516-19_*2516-16deli...
ENST00000302539.9:c.4123-19_4123-16delinsT ENSP00000303960.4:n.4123-19_4123-16delins...
ENST00000389817.8:c.4120-19_4120-16delinsT MANE Select ENSP00000374467.4:n.4120-19_4120-16delins...
ENST00000642271.1:c.4117-19_4117-16delinsT ENSP00000493749.1:n.4117-19_4117-16delins...
ENST00000642579.1:c.2174-19_2174-16delinsT
ENST00000642611.1:n.5186_5189delinsT
ENST00000642902.1:c.3902-19_3902-16delinsT
ENST00000643260.1:c.4120-19_4120-16delinsT ENSP00000494450.1:n.4120-19_4120-16delins...
ENST00000643562.1:c.*2242-19_*2242-16delinsT ENSP00000496124.1:n.*2242-19_*2242-16deli...
ENST00000643925.1:c.2760-19_2760-16delinsT
ENST00000644057.1:n.197-19_197-16delinsT
ENST00000644484.1:c.*3487_*3490delinsT ENSP00000493558.1:n.*3487_*3490delinsT
ENST00000644675.1:c.*2292-19_*2292-16delinsT ENSP00000494567.1:n.*2292-19_*2292-16deli...
ENST00000644757.1:c.*3202+315_*3202+318delinsT ENSP00000495085.1:n.*3202+315_*3202+318de...
ENST00000644772.1:c.4186-19_4186-16delinsT ENSP00000494321.1:n.4186-19_4186-16delins...
ENST00000645004.1:n.1813-19_1813-16delinsT
ENST00000645076.1:c.3319-19_3319-16delinsT
ENST00000645417.1:c.1308-19_1308-16delinsT
ENST00000645744.1:c.*3866_*3869delinsT ENSP00000494564.1:n.*3866_*3869delinsT
ENST00000645760.1:c.4541-19_4541-16delinsT
ENST00000645884.1:c.*1403-19_*1403-16delinsT ENSP00000495516.1:n.*1403-19_*1403-16deli...
ENST00000646003.1:c.*2222-19_*2222-16delinsT ENSP00000495259.1:n.*2222-19_*2222-16deli...
ENST00000646207.1:c.*2957-19_*2957-16delinsT ENSP00000495025.1:n.*2957-19_*2957-16deli...
ENST00000646276.1:c.*3505_*3508delinsT ENSP00000496070.1:n.*3505_*3508delinsT
ENST00000646592.1:c.3426-19_3426-16delinsT
ENST00000646902.1:c.4087-19_4087-16delinsT ENSP00000494101.1:n.4087-19_4087-16delins...
ENST00000646993.1:c.*2662-19_*2662-16delinsT ENSP00000493720.1:n.*2662-19_*2662-16deli...
ENST00000647013.1:c.4126-19_4126-16delinsT ENSP00000496741.1:n.4126-19_4126-16delins...
ENST00000647015.1:c.3871-19_3871-16delinsT ENSP00000495389.1:n.3871-19_3871-16delins...
ENST00000647086.1:c.*3706-19_*3706-16delinsT ENSP00000493677.1:n.*3706-19_*3706-16deli...
ENST00000647158.1:c.*2407-19_*2407-16delinsT ENSP00000495744.1:n.*2407-19_*2407-16deli...
ENST00000302539.8:c.4123-19_4123-16delinsT ENSP00000303960.4:n.4123-19_4123-16delins...
ENST00000389817.7:c.4120-19_4120-16delinsT ENSP00000374467.3:n.4120-19_4120-16delins...
ENST00000528374.1:c.602-19_602-16delinsT
ENST00000532220.1:n.594-19_594-16delinsT
NM_000352.4:c.4120-19_4120-16delinsT NP_000343.2:n.4120-19_4120-16delinsT
NM_001287174.1:c.4123-19_4123-16delinsT NP_001274103.1:n.4123-19_4123-16delinsT
XM_011520331.1:c.4120-19_4120-16delinsT XP_011518633.1:n.4120-19_4120-16delinsT
XM_011520332.1:c.4123-19_4123-16delinsT XP_011518634.1:n.4123-19_4123-16delinsT
XM_011520333.1:c.2620-19_2620-16delinsT XP_011518635.1:n.2620-19_2620-16delinsT
XR_930890.1:n.4186-19_4186-16delinsT
NM_001351295.1:c.4186-19_4186-16delinsT NP_001338224.1:n.4186-19_4186-16delinsT
NM_001351296.1:c.4120-19_4120-16delinsT NP_001338225.1:n.4120-19_4120-16delinsT
NM_001351297.1:c.4117-19_4117-16delinsT NP_001338226.1:n.4117-19_4117-16delinsT
NR_147094.1:n.4415-19_4415-16delinsT
XM_017018197.2:c.4189-19_4189-16delinsT XP_016873686.1:n.4189-19_4189-16delinsT
XM_017018199.1:c.4186-19_4186-16delinsT XP_016873688.1:n.4186-19_4186-16delinsT
XM_017018201.2:c.4189-19_4189-16delinsT XP_016873690.1:n.4189-19_4189-16delinsT
XM_017018202.1:c.2686-19_2686-16delinsT XP_016873691.1:n.2686-19_2686-16delinsT
XM_017018204.1:c.2077-19_2077-16delinsT XP_016873693.1:n.2077-19_2077-16delinsT
XM_024448668.1:c.2488-19_2488-16delinsT XP_024304436.1:n.2488-19_2488-16delinsT
XR_001747945.2:n.4261-19_4261-16delinsT
XR_001747946.2:n.4192-19_4192-16delinsT
XR_002957189.1:n.5823_5826delinsT
NM_000352.6:c.4120-19_4120-16delinsT MANE Select NP_000343.2:n.4120-19_4120-16delinsT
NM_001287174.2:c.4123-19_4123-16delinsT NP_001274103.1:n.4123-19_4123-16delinsT
NM_001351295.2:c.4186-19_4186-16delinsT NP_001338224.1:n.4186-19_4186-16delinsT
NM_001351296.2:c.4120-19_4120-16delinsT NP_001338225.1:n.4120-19_4120-16delinsT
NM_001351297.2:c.4117-19_4117-16delinsT NP_001338226.1:n.4117-19_4117-16delinsT
NR_147094.2:n.4415-19_4415-16delinsT
NM_001287174.3:c.4123-19_4123-16delinsT NP_001274103.1:n.4123-19_4123-16delinsT