Canonical Allele Identifier: CA2790589834
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17413019_17413023del , CM000673.2:g.17413019_17413023del GRCh38
NC_000011.9:g.17434566_17434570del , CM000673.1:g.17434566_17434570del GRCh37
NC_000011.8:g.17391142_17391146del NCBI36
NG_008867.1:g.68881_68885del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2145-276_2145-272del
ENST00000529967.6:n.735-276_735-272del
ENST00000642611.2:n.2545-276_2545-272del
ENST00000682051.1:n.2492-276_2492-272del
ENST00000682110.1:n.2545-276_2545-272del
ENST00000682140.1:c.2473-276_2473-272del ENSP00000507829.1:n.2473-276_2473-272del
ENST00000682185.1:n.3781-276_3781-272del
ENST00000682204.1:c.*614-276_*614-272del ENSP00000507094.1:n.*614-276_*614-272del
ENST00000682215.1:n.2542-276_2542-272del
ENST00000682288.1:c.*907-276_*907-272del ENSP00000507506.1:n.*907-276_*907-272del
ENST00000682442.1:n.2666-276_2666-272del
ENST00000682528.1:n.2542-276_2542-272del
ENST00000682673.1:n.2489-276_2489-272del
ENST00000682805.1:n.2542-276_2542-272del
ENST00000682965.1:c.2473-276_2473-272del ENSP00000508229.1:n.2473-276_2473-272del
ENST00000683093.1:n.2644-276_2644-272del
ENST00000683136.1:c.2473-276_2473-272del ENSP00000507768.1:n.2473-276_2473-272del
ENST00000683153.1:n.2701-276_2701-272del
ENST00000683365.1:n.2647-276_2647-272del
ENST00000683377.1:n.2545-276_2545-272del
ENST00000683456.1:c.2476-276_2476-272del ENSP00000508318.1:n.2476-276_2476-272del
ENST00000683522.1:n.2545-276_2545-272del
ENST00000683562.1:c.*645-276_*645-272del ENSP00000508265.1:n.*645-276_*645-272del
ENST00000683693.1:n.2542-276_2542-272del
ENST00000683725.1:c.2476-276_2476-272del ENSP00000507496.1:n.2476-276_2476-272del
ENST00000684010.1:n.2460-276_2460-272del
ENST00000684157.1:n.2545-276_2545-272del
ENST00000684253.1:n.2448-276_2448-272del
ENST00000684288.1:c.*648-276_*648-272del ENSP00000507143.1:n.*648-276_*648-272del
ENST00000684313.1:n.1977-276_1977-272del
ENST00000684332.1:n.2618-276_2618-272del
ENST00000684371.1:n.2651-276_2651-272del
ENST00000684404.1:n.2542-276_2542-272del
ENST00000684442.1:n.2545-276_2545-272del
ENST00000684555.1:c.*688-276_*688-272del ENSP00000507705.1:n.*688-276_*688-272del
ENST00000684571.1:c.2317-276_2317-272del ENSP00000506935.1:n.2317-276_2317-272del
ENST00000684593.1:c.*2181-276_*2181-272del ENSP00000507005.1:n.*2181-276_*2181-272del
ENST00000684711.1:c.*872-276_*872-272del ENSP00000506841.1:n.*872-276_*872-272del
ENST00000302539.9:c.2479-276_2479-272del ENSP00000303960.4:n.2479-276_2479-272del
ENST00000389817.8:c.2476-276_2476-272del MANE Select ENSP00000374467.4:n.2476-276_2476-272del
ENST00000642271.1:c.2473-276_2473-272del ENSP00000493749.1:n.2473-276_2473-272del
ENST00000642579.1:c.560-276_560-272del
ENST00000642611.1:n.2430-276_2430-272del
ENST00000642902.1:c.2311-276_2311-272del
ENST00000643260.1:c.2476-276_2476-272del ENSP00000494450.1:n.2476-276_2476-272del
ENST00000643562.1:c.*452-276_*452-272del ENSP00000496124.1:n.*452-276_*452-272del
ENST00000643925.1:c.416-45_416-41del
ENST00000644447.1:c.832-276_832-272del ENSP00000496282.1:n.832-276_832-272del
ENST00000644472.1:c.*837-276_*837-272del ENSP00000495378.1:n.*837-276_*837-272del
ENST00000644484.1:c.*685-276_*685-272del ENSP00000493558.1:n.*685-276_*685-272del
ENST00000644542.1:c.*2181-276_*2181-272del ENSP00000495532.1:n.*2181-276_*2181-272del
ENST00000644675.1:c.*648-276_*648-272del ENSP00000494567.1:n.*648-276_*648-272del
ENST00000644757.1:c.*781-276_*781-272del ENSP00000495085.1:n.*781-276_*781-272del
ENST00000644772.1:c.2542-276_2542-272del ENSP00000494321.1:n.2542-276_2542-272del
ENST00000645076.1:c.1728-276_1728-272del
ENST00000645744.1:c.*840-276_*840-272del ENSP00000494564.1:n.*840-276_*840-272del
ENST00000645760.1:c.2751-276_2751-272del
ENST00000645884.1:c.2476-276_2476-272del ENSP00000495516.1:n.2476-276_2476-272del
ENST00000646003.1:c.*532-276_*532-272del ENSP00000495259.1:n.*532-276_*532-272del
ENST00000646207.1:c.*840-276_*840-272del ENSP00000495025.1:n.*840-276_*840-272del
ENST00000646276.1:c.*749-276_*749-272del ENSP00000496070.1:n.*749-276_*749-272del
ENST00000646592.1:c.1702-276_1702-272del
ENST00000646902.1:c.2473-276_2473-272del ENSP00000494101.1:n.2473-276_2473-272del
ENST00000646993.1:c.*872-276_*872-272del ENSP00000493720.1:n.*872-276_*872-272del
ENST00000647013.1:c.2482-276_2482-272del ENSP00000496741.1:n.2482-276_2482-272del
ENST00000647015.1:c.2227-276_2227-272del ENSP00000495389.1:n.2227-276_2227-272del
ENST00000647086.1:c.*2206-276_*2206-272del ENSP00000493677.1:n.*2206-276_*2206-272del
ENST00000647158.1:c.*617-276_*617-272del ENSP00000495744.1:n.*617-276_*617-272del
ENST00000302539.8:c.2479-276_2479-272del ENSP00000303960.4:n.2479-276_2479-272del
ENST00000389817.7:c.2476-276_2476-272del ENSP00000374467.3:n.2476-276_2476-272del
ENST00000526921.5:n.160-276_160-272del
ENST00000527905.5:c.2446-276_2446-272del ENSP00000431653.1:n.2446-276_2446-272del
ENST00000529967.5:n.145-276_145-272del
ENST00000530147.5:n.59-276_59-272del
ENST00000531911.1:n.590-276_590-272del
NM_000352.4:c.2476-276_2476-272del NP_000343.2:n.2476-276_2476-272del
NM_001287174.1:c.2479-276_2479-272del NP_001274103.1:n.2479-276_2479-272del
XM_011520331.1:c.2476-276_2476-272del XP_011518633.1:n.2476-276_2476-272del
XM_011520332.1:c.2479-276_2479-272del XP_011518634.1:n.2479-276_2479-272del
XM_011520333.1:c.976-276_976-272del XP_011518635.1:n.976-276_976-272del
XM_011520334.1:c.2479-276_2479-272del XP_011518636.1:n.2479-276_2479-272del
XR_930890.1:n.2542-276_2542-272del
XR_930891.1:n.2542-276_2542-272del
XR_930892.1:n.2542-276_2542-272del
XR_930893.1:n.2539-276_2539-272del
NM_001351295.1:c.2542-276_2542-272del NP_001338224.1:n.2542-276_2542-272del
NM_001351296.1:c.2476-276_2476-272del NP_001338225.1:n.2476-276_2476-272del
NM_001351297.1:c.2473-276_2473-272del NP_001338226.1:n.2473-276_2473-272del
NR_147094.1:n.2545-276_2545-272del
XM_017018197.2:c.2545-276_2545-272del XP_016873686.1:n.2545-276_2545-272del
XM_017018199.1:c.2542-276_2542-272del XP_016873688.1:n.2542-276_2542-272del
XM_017018201.2:c.2545-276_2545-272del XP_016873690.1:n.2545-276_2545-272del
XM_017018202.1:c.1042-276_1042-272del XP_016873691.1:n.1042-276_1042-272del
XM_017018204.1:c.433-276_433-272del XP_016873693.1:n.433-276_433-272del
XM_024448668.1:c.844-276_844-272del XP_024304436.1:n.844-276_844-272del
XR_001747945.2:n.2617-276_2617-272del
XR_001747946.2:n.2548-276_2548-272del
XR_002957189.1:n.2617-276_2617-272del
NM_000352.6:c.2476-276_2476-272del MANE Select NP_000343.2:n.2476-276_2476-272del
NM_001287174.2:c.2479-276_2479-272del NP_001274103.1:n.2479-276_2479-272del
NM_001351295.2:c.2542-276_2542-272del NP_001338224.1:n.2542-276_2542-272del
NM_001351296.2:c.2476-276_2476-272del NP_001338225.1:n.2476-276_2476-272del
NM_001351297.2:c.2473-276_2473-272del NP_001338226.1:n.2473-276_2473-272del
NR_147094.2:n.2545-276_2545-272del
NM_001287174.3:c.2479-276_2479-272del NP_001274103.1:n.2479-276_2479-272del