Canonical Allele Identifier: CA1955123611
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396364_17396365delinsGA , CM000673.2:g.17396364_17396365delinsGA GRCh38
NC_000011.9:g.17417911_17417912delinsGA , CM000673.1:g.17417911_17417912delinsGA GRCh37
NC_000011.8:g.17374487_17374488delinsGA NCBI36
NG_008867.1:g.85538_85539delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3721-435_3721-434delinsTC
ENST00000528374.2:c.711-435_711-434delinsTC
ENST00000529967.6:n.2459-435_2459-434delinsTC
ENST00000532220.2:n.2918_2919delinsTC
ENST00000642611.2:n.4885_4886delinsTC
ENST00000644057.2:n.563-435_563-434delinsTC
ENST00000645004.2:n.1619-435_1619-434delinsTC
ENST00000682051.1:n.4282-435_4282-434delinsTC
ENST00000682110.1:n.4335-435_4335-434delinsTC
ENST00000682140.1:c.3986-435_3986-434delinsTC ENSP00000507829.1:n.3986-435_3986-434delinsTC
ENST00000682185.1:n.5425-435_5425-434delinsTC
ENST00000682204.1:c.*2258-435_*2258-434delinsTC ENSP00000507094.1:n.*2258-435_*2258-434delinsTC
ENST00000682215.1:n.4702-435_4702-434delinsTC
ENST00000682288.1:c.*2551-435_*2551-434delinsTC ENSP00000507506.1:n.*2551-435_*2551-434delinsTC
ENST00000682442.1:n.4555-435_4555-434delinsTC
ENST00000682528.1:n.4412-435_4412-434delinsTC
ENST00000682673.1:n.4279-435_4279-434delinsTC
ENST00000682805.1:n.4740-435_4740-434delinsTC
ENST00000682965.1:c.*542-435_*542-434delinsTC ENSP00000508229.1:n.*542-435_*542-434delinsTC
ENST00000683093.1:n.4984_4985delinsTC
ENST00000683136.1:c.4003-435_4003-434delinsTC ENSP00000507768.1:n.4003-435_4003-434delinsTC
ENST00000683153.1:n.4377-435_4377-434delinsTC
ENST00000683365.1:n.4437-435_4437-434delinsTC
ENST00000683377.1:n.4335-435_4335-434delinsTC
ENST00000683456.1:c.*1257-435_*1257-434delinsTC ENSP00000508318.1:n.*1257-435_*1257-434delinsTC
ENST00000683522.1:n.4335-435_4335-434delinsTC
ENST00000683562.1:c.*2289-435_*2289-434delinsTC ENSP00000508265.1:n.*2289-435_*2289-434delinsTC
ENST00000683693.1:n.5332_5333delinsTC
ENST00000683725.1:c.4120-435_4120-434delinsTC ENSP00000507496.1:n.4120-435_4120-434delinsTC
ENST00000684010.1:n.4330-435_4330-434delinsTC
ENST00000684157.1:n.4885_4886delinsTC
ENST00000684253.1:n.4238-435_4238-434delinsTC
ENST00000684288.1:c.*2292-435_*2292-434delinsTC ENSP00000507143.1:n.*2292-435_*2292-434delinsTC
ENST00000684313.1:n.3767-435_3767-434delinsTC
ENST00000684332.1:n.4408-435_4408-434delinsTC
ENST00000684371.1:n.4441-435_4441-434delinsTC
ENST00000684404.1:n.4928_4929delinsTC
ENST00000684442.1:n.4559-435_4559-434delinsTC
ENST00000684555.1:c.*2332-435_*2332-434delinsTC ENSP00000507705.1:n.*2332-435_*2332-434delinsTC
ENST00000684571.1:c.3961-435_3961-434delinsTC ENSP00000506935.1:n.3961-435_3961-434delinsTC
ENST00000684593.1:c.*3825-435_*3825-434delinsTC ENSP00000507005.1:n.*3825-435_*3825-434delinsTC
ENST00000684711.1:c.*2516-435_*2516-434delinsTC ENSP00000506841.1:n.*2516-435_*2516-434delinsTC
ENST00000302539.9:c.4123-435_4123-434delinsTC ENSP00000303960.4:n.4123-435_4123-434delinsTC
ENST00000389817.8:c.4120-435_4120-434delinsTC MANE Select ENSP00000374467.4:n.4120-435_4120-434delinsTC
ENST00000642271.1:c.4117-435_4117-434delinsTC ENSP00000493749.1:n.4117-435_4117-434delinsTC
ENST00000642579.1:c.2174-435_2174-434delinsTC
ENST00000642611.1:n.4770_4771delinsTC
ENST00000642902.1:c.3902-435_3902-434delinsTC
ENST00000643260.1:c.4120-435_4120-434delinsTC ENSP00000494450.1:n.4120-435_4120-434delinsTC
ENST00000643562.1:c.*2242-435_*2242-434delinsTC ENSP00000496124.1:n.*2242-435_*2242-434delinsTC
ENST00000643925.1:c.2760-435_2760-434delinsTC
ENST00000644057.1:n.197-435_197-434delinsTC
ENST00000644484.1:c.*3071_*3072delinsTC ENSP00000493558.1:n.*3071_*3072delinsTC
ENST00000644675.1:c.*2292-435_*2292-434delinsTC ENSP00000494567.1:n.*2292-435_*2292-434delinsTC
ENST00000644757.1:c.*3101_*3102delinsTC ENSP00000495085.1:n.*3101_*3102delinsTC
ENST00000644772.1:c.4186-435_4186-434delinsTC ENSP00000494321.1:n.4186-435_4186-434delinsTC
ENST00000645004.1:n.1813-435_1813-434delinsTC
ENST00000645076.1:c.3319-435_3319-434delinsTC
ENST00000645417.1:c.1308-435_1308-434delinsTC
ENST00000645744.1:c.*3450_*3451delinsTC ENSP00000494564.1:n.*3450_*3451delinsTC
ENST00000645760.1:c.4541-435_4541-434delinsTC
ENST00000645884.1:c.*1403-435_*1403-434delinsTC ENSP00000495516.1:n.*1403-435_*1403-434delinsTC
ENST00000646003.1:c.*2222-435_*2222-434delinsTC ENSP00000495259.1:n.*2222-435_*2222-434delinsTC
ENST00000646207.1:c.*2957-435_*2957-434delinsTC ENSP00000495025.1:n.*2957-435_*2957-434delinsTC
ENST00000646276.1:c.*3089_*3090delinsTC ENSP00000496070.1:n.*3089_*3090delinsTC
ENST00000646592.1:c.3426-435_3426-434delinsTC
ENST00000646902.1:c.4087-435_4087-434delinsTC ENSP00000494101.1:n.4087-435_4087-434delinsTC
ENST00000646993.1:c.*2662-435_*2662-434delinsTC ENSP00000493720.1:n.*2662-435_*2662-434delinsTC
ENST00000647013.1:c.4126-435_4126-434delinsTC ENSP00000496741.1:n.4126-435_4126-434delinsTC
ENST00000647015.1:c.3871-435_3871-434delinsTC ENSP00000495389.1:n.3871-435_3871-434delinsTC
ENST00000647086.1:c.*3706-435_*3706-434delinsTC ENSP00000493677.1:n.*3706-435_*3706-434delinsTC
ENST00000647158.1:c.*2407-435_*2407-434delinsTC ENSP00000495744.1:n.*2407-435_*2407-434delinsTC
ENST00000302539.8:c.4123-435_4123-434delinsTC ENSP00000303960.4:n.4123-435_4123-434delinsTC
ENST00000389817.7:c.4120-435_4120-434delinsTC ENSP00000374467.3:n.4120-435_4120-434delinsTC
ENST00000528374.1:c.602-435_602-434delinsTC
ENST00000532220.1:n.594-435_594-434delinsTC
NM_000352.4:c.4120-435_4120-434delinsTC NP_000343.2:n.4120-435_4120-434delinsTC
NM_001287174.1:c.4123-435_4123-434delinsTC NP_001274103.1:n.4123-435_4123-434delinsTC
XM_011520331.1:c.4120-435_4120-434delinsTC XP_011518633.1:n.4120-435_4120-434delinsTC
XM_011520332.1:c.4123-435_4123-434delinsTC XP_011518634.1:n.4123-435_4123-434delinsTC
XM_011520333.1:c.2620-435_2620-434delinsTC XP_011518635.1:n.2620-435_2620-434delinsTC
XR_930890.1:n.4186-435_4186-434delinsTC
NM_001351295.1:c.4186-435_4186-434delinsTC NP_001338224.1:n.4186-435_4186-434delinsTC
NM_001351296.1:c.4120-435_4120-434delinsTC NP_001338225.1:n.4120-435_4120-434delinsTC
NM_001351297.1:c.4117-435_4117-434delinsTC NP_001338226.1:n.4117-435_4117-434delinsTC
NR_147094.1:n.4415-435_4415-434delinsTC
XM_017018197.2:c.4189-435_4189-434delinsTC XP_016873686.1:n.4189-435_4189-434delinsTC
XM_017018199.1:c.4186-435_4186-434delinsTC XP_016873688.1:n.4186-435_4186-434delinsTC
XM_017018201.2:c.4189-435_4189-434delinsTC XP_016873690.1:n.4189-435_4189-434delinsTC
XM_017018202.1:c.2686-435_2686-434delinsTC XP_016873691.1:n.2686-435_2686-434delinsTC
XM_017018204.1:c.2077-435_2077-434delinsTC XP_016873693.1:n.2077-435_2077-434delinsTC
XM_024448668.1:c.2488-435_2488-434delinsTC XP_024304436.1:n.2488-435_2488-434delinsTC
XR_001747945.2:n.4261-435_4261-434delinsTC
XR_001747946.2:n.4192-435_4192-434delinsTC
XR_002957189.1:n.5407_5408delinsTC
NM_000352.6:c.4120-435_4120-434delinsTC MANE Select NP_000343.2:n.4120-435_4120-434delinsTC
NM_001287174.2:c.4123-435_4123-434delinsTC NP_001274103.1:n.4123-435_4123-434delinsTC
NM_001351295.2:c.4186-435_4186-434delinsTC NP_001338224.1:n.4186-435_4186-434delinsTC
NM_001351296.2:c.4120-435_4120-434delinsTC NP_001338225.1:n.4120-435_4120-434delinsTC
NM_001351297.2:c.4117-435_4117-434delinsTC NP_001338226.1:n.4117-435_4117-434delinsTC
NR_147094.2:n.4415-435_4415-434delinsTC
NM_001287174.3:c.4123-435_4123-434delinsTC NP_001274103.1:n.4123-435_4123-434delinsTC