Canonical Allele Identifier: CA2790588275
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396019_17396020insTTT , CM000673.2:g.17396019_17396020insTTT GRCh38
NC_000011.9:g.17417566_17417567insTTT , CM000673.1:g.17417566_17417567insTTT GRCh37
NC_000011.8:g.17374142_17374143insTTT NCBI36
NG_008867.1:g.85883_85884insAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3721-90_3721-89insAAA
ENST00000528374.2:c.711-90_711-89insAAA
ENST00000529967.6:n.2459-90_2459-89insAAA
ENST00000532220.2:n.3263_3264insAAA
ENST00000642611.2:n.5230_5231insAAA
ENST00000644057.2:n.563-90_563-89insAAA
ENST00000645004.2:n.1619-90_1619-89insAAA
ENST00000682051.1:n.4282-90_4282-89insAAA
ENST00000682110.1:n.4335-90_4335-89insAAA
ENST00000682140.1:c.3986-90_3986-89insAAA ENSP00000507829.1:n.3986-90_3986-89insAAA
ENST00000682185.1:n.5425-90_5425-89insAAA
ENST00000682204.1:c.*2258-90_*2258-89insAAA ENSP00000507094.1:n.*2258-90_*2258-89insAAA
ENST00000682215.1:n.4702-90_4702-89insAAA
ENST00000682288.1:c.*2551-90_*2551-89insAAA ENSP00000507506.1:n.*2551-90_*2551-89insAAA
ENST00000682442.1:n.4555-90_4555-89insAAA
ENST00000682528.1:n.4412-90_4412-89insAAA
ENST00000682673.1:n.4279-90_4279-89insAAA
ENST00000682805.1:n.4740-90_4740-89insAAA
ENST00000682965.1:c.*542-90_*542-89insAAA ENSP00000508229.1:n.*542-90_*542-89insAAA
ENST00000683093.1:n.5329_5330insAAA
ENST00000683136.1:c.4003-90_4003-89insAAA ENSP00000507768.1:n.4003-90_4003-89insAAA
ENST00000683153.1:n.4377-90_4377-89insAAA
ENST00000683365.1:n.4437-90_4437-89insAAA
ENST00000683377.1:n.4335-90_4335-89insAAA
ENST00000683456.1:c.*1257-90_*1257-89insAAA ENSP00000508318.1:n.*1257-90_*1257-89insAAA
ENST00000683522.1:n.4335-90_4335-89insAAA
ENST00000683562.1:c.*2289-90_*2289-89insAAA ENSP00000508265.1:n.*2289-90_*2289-89insAAA
ENST00000683693.1:n.5677_5678insAAA
ENST00000683725.1:c.4120-90_4120-89insAAA ENSP00000507496.1:n.4120-90_4120-89insAAA
ENST00000684010.1:n.4330-90_4330-89insAAA
ENST00000684157.1:n.5230_5231insAAA
ENST00000684253.1:n.4238-90_4238-89insAAA
ENST00000684288.1:c.*2292-90_*2292-89insAAA ENSP00000507143.1:n.*2292-90_*2292-89insAAA
ENST00000684313.1:n.3767-90_3767-89insAAA
ENST00000684332.1:n.4408-90_4408-89insAAA
ENST00000684371.1:n.4441-90_4441-89insAAA
ENST00000684404.1:n.5273_5274insAAA
ENST00000684442.1:n.4559-90_4559-89insAAA
ENST00000684555.1:c.*2332-90_*2332-89insAAA ENSP00000507705.1:n.*2332-90_*2332-89insAAA
ENST00000684571.1:c.3961-90_3961-89insAAA ENSP00000506935.1:n.3961-90_3961-89insAAA
ENST00000684593.1:c.*3825-90_*3825-89insAAA ENSP00000507005.1:n.*3825-90_*3825-89insAAA
ENST00000684711.1:c.*2516-90_*2516-89insAAA ENSP00000506841.1:n.*2516-90_*2516-89insAAA
ENST00000302539.9:c.4123-90_4123-89insAAA ENSP00000303960.4:n.4123-90_4123-89insAAA
ENST00000389817.8:c.4120-90_4120-89insAAA MANE Select ENSP00000374467.4:n.4120-90_4120-89insAAA
ENST00000642271.1:c.4117-90_4117-89insAAA ENSP00000493749.1:n.4117-90_4117-89insAAA
ENST00000642579.1:c.2174-90_2174-89insAAA
ENST00000642611.1:n.5115_5116insAAA
ENST00000642902.1:c.3902-90_3902-89insAAA
ENST00000643260.1:c.4120-90_4120-89insAAA ENSP00000494450.1:n.4120-90_4120-89insAAA
ENST00000643562.1:c.*2242-90_*2242-89insAAA ENSP00000496124.1:n.*2242-90_*2242-89insAAA
ENST00000643925.1:c.2760-90_2760-89insAAA
ENST00000644057.1:n.197-90_197-89insAAA
ENST00000644484.1:c.*3416_*3417insAAA ENSP00000493558.1:n.*3416_*3417insAAA
ENST00000644675.1:c.*2292-90_*2292-89insAAA ENSP00000494567.1:n.*2292-90_*2292-89insAAA
ENST00000644757.1:c.*3202+244_*3202+245insAAA ENSP00000495085.1:n.*3202+244_*3202+245insAAA
ENST00000644772.1:c.4186-90_4186-89insAAA ENSP00000494321.1:n.4186-90_4186-89insAAA
ENST00000645004.1:n.1813-90_1813-89insAAA
ENST00000645076.1:c.3319-90_3319-89insAAA
ENST00000645417.1:c.1308-90_1308-89insAAA
ENST00000645744.1:c.*3795_*3796insAAA ENSP00000494564.1:n.*3795_*3796insAAA
ENST00000645760.1:c.4541-90_4541-89insAAA
ENST00000645884.1:c.*1403-90_*1403-89insAAA ENSP00000495516.1:n.*1403-90_*1403-89insAAA
ENST00000646003.1:c.*2222-90_*2222-89insAAA ENSP00000495259.1:n.*2222-90_*2222-89insAAA
ENST00000646207.1:c.*2957-90_*2957-89insAAA ENSP00000495025.1:n.*2957-90_*2957-89insAAA
ENST00000646276.1:c.*3434_*3435insAAA ENSP00000496070.1:n.*3434_*3435insAAA
ENST00000646592.1:c.3426-90_3426-89insAAA
ENST00000646902.1:c.4087-90_4087-89insAAA ENSP00000494101.1:n.4087-90_4087-89insAAA
ENST00000646993.1:c.*2662-90_*2662-89insAAA ENSP00000493720.1:n.*2662-90_*2662-89insAAA
ENST00000647013.1:c.4126-90_4126-89insAAA ENSP00000496741.1:n.4126-90_4126-89insAAA
ENST00000647015.1:c.3871-90_3871-89insAAA ENSP00000495389.1:n.3871-90_3871-89insAAA
ENST00000647086.1:c.*3706-90_*3706-89insAAA ENSP00000493677.1:n.*3706-90_*3706-89insAAA
ENST00000647158.1:c.*2407-90_*2407-89insAAA ENSP00000495744.1:n.*2407-90_*2407-89insAAA
ENST00000302539.8:c.4123-90_4123-89insAAA ENSP00000303960.4:n.4123-90_4123-89insAAA
ENST00000389817.7:c.4120-90_4120-89insAAA ENSP00000374467.3:n.4120-90_4120-89insAAA
ENST00000528374.1:c.602-90_602-89insAAA
ENST00000532220.1:n.594-90_594-89insAAA
NM_000352.4:c.4120-90_4120-89insAAA NP_000343.2:n.4120-90_4120-89insAAA
NM_001287174.1:c.4123-90_4123-89insAAA NP_001274103.1:n.4123-90_4123-89insAAA
XM_011520331.1:c.4120-90_4120-89insAAA XP_011518633.1:n.4120-90_4120-89insAAA
XM_011520332.1:c.4123-90_4123-89insAAA XP_011518634.1:n.4123-90_4123-89insAAA
XM_011520333.1:c.2620-90_2620-89insAAA XP_011518635.1:n.2620-90_2620-89insAAA
XR_930890.1:n.4186-90_4186-89insAAA
NM_001351295.1:c.4186-90_4186-89insAAA NP_001338224.1:n.4186-90_4186-89insAAA
NM_001351296.1:c.4120-90_4120-89insAAA NP_001338225.1:n.4120-90_4120-89insAAA
NM_001351297.1:c.4117-90_4117-89insAAA NP_001338226.1:n.4117-90_4117-89insAAA
NR_147094.1:n.4415-90_4415-89insAAA
XM_017018197.2:c.4189-90_4189-89insAAA XP_016873686.1:n.4189-90_4189-89insAAA
XM_017018199.1:c.4186-90_4186-89insAAA XP_016873688.1:n.4186-90_4186-89insAAA
XM_017018201.2:c.4189-90_4189-89insAAA XP_016873690.1:n.4189-90_4189-89insAAA
XM_017018202.1:c.2686-90_2686-89insAAA XP_016873691.1:n.2686-90_2686-89insAAA
XM_017018204.1:c.2077-90_2077-89insAAA XP_016873693.1:n.2077-90_2077-89insAAA
XM_024448668.1:c.2488-90_2488-89insAAA XP_024304436.1:n.2488-90_2488-89insAAA
XR_001747945.2:n.4261-90_4261-89insAAA
XR_001747946.2:n.4192-90_4192-89insAAA
XR_002957189.1:n.5752_5753insAAA
NM_000352.6:c.4120-90_4120-89insAAA MANE Select NP_000343.2:n.4120-90_4120-89insAAA
NM_001287174.2:c.4123-90_4123-89insAAA NP_001274103.1:n.4123-90_4123-89insAAA
NM_001351295.2:c.4186-90_4186-89insAAA NP_001338224.1:n.4186-90_4186-89insAAA
NM_001351296.2:c.4120-90_4120-89insAAA NP_001338225.1:n.4120-90_4120-89insAAA
NM_001351297.2:c.4117-90_4117-89insAAA NP_001338226.1:n.4117-90_4117-89insAAA
NR_147094.2:n.4415-90_4415-89insAAA
NM_001287174.3:c.4123-90_4123-89insAAA NP_001274103.1:n.4123-90_4123-89insAAA