Canonical Allele Identifier: CA1955131464
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17412986_17412990delinsTACAA , CM000673.2:g.17412986_17412990delinsTACAA GRCh38
NC_000011.9:g.17434533_17434537delinsTACAA , CM000673.1:g.17434533_17434537delinsTACAA GRCh37
NC_000011.8:g.17391109_17391113delinsTACAA NCBI36
NG_008867.1:g.68913_68917delinsTTGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2145-244_2145-240delinsTTGTA
ENST00000529967.6:n.735-244_735-240delinsTTGTA
ENST00000642611.2:n.2545-244_2545-240delinsTTGTA
ENST00000682051.1:n.2492-244_2492-240delinsTTGTA
ENST00000682110.1:n.2545-244_2545-240delinsTTGTA
ENST00000682140.1:c.2473-244_2473-240delinsTTGTA ENSP00000507829.1:n.2473-244_2473-240delinsTTGTA
ENST00000682185.1:n.3781-244_3781-240delinsTTGTA
ENST00000682204.1:c.*614-244_*614-240delinsTTGTA ENSP00000507094.1:n.*614-244_*614-240delinsTTGTA
ENST00000682215.1:n.2542-244_2542-240delinsTTGTA
ENST00000682288.1:c.*907-244_*907-240delinsTTGTA ENSP00000507506.1:n.*907-244_*907-240delinsTTGTA
ENST00000682442.1:n.2666-244_2666-240delinsTTGTA
ENST00000682528.1:n.2542-244_2542-240delinsTTGTA
ENST00000682673.1:n.2489-244_2489-240delinsTTGTA
ENST00000682805.1:n.2542-244_2542-240delinsTTGTA
ENST00000682965.1:c.2473-244_2473-240delinsTTGTA ENSP00000508229.1:n.2473-244_2473-240delinsTTGTA
ENST00000683093.1:n.2644-244_2644-240delinsTTGTA
ENST00000683136.1:c.2473-244_2473-240delinsTTGTA ENSP00000507768.1:n.2473-244_2473-240delinsTTGTA
ENST00000683153.1:n.2701-244_2701-240delinsTTGTA
ENST00000683365.1:n.2647-244_2647-240delinsTTGTA
ENST00000683377.1:n.2545-244_2545-240delinsTTGTA
ENST00000683456.1:c.2476-244_2476-240delinsTTGTA ENSP00000508318.1:n.2476-244_2476-240delinsTTGTA
ENST00000683522.1:n.2545-244_2545-240delinsTTGTA
ENST00000683562.1:c.*645-244_*645-240delinsTTGTA ENSP00000508265.1:n.*645-244_*645-240delinsTTGTA
ENST00000683693.1:n.2542-244_2542-240delinsTTGTA
ENST00000683725.1:c.2476-244_2476-240delinsTTGTA ENSP00000507496.1:n.2476-244_2476-240delinsTTGTA
ENST00000684010.1:n.2460-244_2460-240delinsTTGTA
ENST00000684157.1:n.2545-244_2545-240delinsTTGTA
ENST00000684253.1:n.2448-244_2448-240delinsTTGTA
ENST00000684288.1:c.*648-244_*648-240delinsTTGTA ENSP00000507143.1:n.*648-244_*648-240delinsTTGTA
ENST00000684313.1:n.1977-244_1977-240delinsTTGTA
ENST00000684332.1:n.2618-244_2618-240delinsTTGTA
ENST00000684371.1:n.2651-244_2651-240delinsTTGTA
ENST00000684404.1:n.2542-244_2542-240delinsTTGTA
ENST00000684442.1:n.2545-244_2545-240delinsTTGTA
ENST00000684555.1:c.*688-244_*688-240delinsTTGTA ENSP00000507705.1:n.*688-244_*688-240delinsTTGTA
ENST00000684571.1:c.2317-244_2317-240delinsTTGTA ENSP00000506935.1:n.2317-244_2317-240delinsTTGTA
ENST00000684593.1:c.*2181-244_*2181-240delinsTTGTA ENSP00000507005.1:n.*2181-244_*2181-240delinsTTGTA
ENST00000684711.1:c.*872-244_*872-240delinsTTGTA ENSP00000506841.1:n.*872-244_*872-240delinsTTGTA
ENST00000302539.9:c.2479-244_2479-240delinsTTGTA ENSP00000303960.4:n.2479-244_2479-240delinsTTGTA
ENST00000389817.8:c.2476-244_2476-240delinsTTGTA MANE Select ENSP00000374467.4:n.2476-244_2476-240delinsTTGTA
ENST00000642271.1:c.2473-244_2473-240delinsTTGTA ENSP00000493749.1:n.2473-244_2473-240delinsTTGTA
ENST00000642579.1:c.560-244_560-240delinsTTGTA
ENST00000642611.1:n.2430-244_2430-240delinsTTGTA
ENST00000642902.1:c.2311-244_2311-240delinsTTGTA
ENST00000643260.1:c.2476-244_2476-240delinsTTGTA ENSP00000494450.1:n.2476-244_2476-240delinsTTGTA
ENST00000643562.1:c.*452-244_*452-240delinsTTGTA ENSP00000496124.1:n.*452-244_*452-240delinsTTGTA
ENST00000643925.1:c.416-13_416-9delinsTTGTA
ENST00000644447.1:c.832-244_832-240delinsTTGTA ENSP00000496282.1:n.832-244_832-240delinsTTGTA
ENST00000644472.1:c.*837-244_*837-240delinsTTGTA ENSP00000495378.1:n.*837-244_*837-240delinsTTGTA
ENST00000644484.1:c.*685-244_*685-240delinsTTGTA ENSP00000493558.1:n.*685-244_*685-240delinsTTGTA
ENST00000644542.1:c.*2181-244_*2181-240delinsTTGTA ENSP00000495532.1:n.*2181-244_*2181-240delinsTTGTA
ENST00000644675.1:c.*648-244_*648-240delinsTTGTA ENSP00000494567.1:n.*648-244_*648-240delinsTTGTA
ENST00000644757.1:c.*781-244_*781-240delinsTTGTA ENSP00000495085.1:n.*781-244_*781-240delinsTTGTA
ENST00000644772.1:c.2542-244_2542-240delinsTTGTA ENSP00000494321.1:n.2542-244_2542-240delinsTTGTA
ENST00000645076.1:c.1728-244_1728-240delinsTTGTA
ENST00000645744.1:c.*840-244_*840-240delinsTTGTA ENSP00000494564.1:n.*840-244_*840-240delinsTTGTA
ENST00000645760.1:c.2751-244_2751-240delinsTTGTA
ENST00000645884.1:c.2476-244_2476-240delinsTTGTA ENSP00000495516.1:n.2476-244_2476-240delinsTTGTA
ENST00000646003.1:c.*532-244_*532-240delinsTTGTA ENSP00000495259.1:n.*532-244_*532-240delinsTTGTA
ENST00000646207.1:c.*840-244_*840-240delinsTTGTA ENSP00000495025.1:n.*840-244_*840-240delinsTTGTA
ENST00000646276.1:c.*749-244_*749-240delinsTTGTA ENSP00000496070.1:n.*749-244_*749-240delinsTTGTA
ENST00000646592.1:c.1702-244_1702-240delinsTTGTA
ENST00000646902.1:c.2473-244_2473-240delinsTTGTA ENSP00000494101.1:n.2473-244_2473-240delinsTTGTA
ENST00000646993.1:c.*872-244_*872-240delinsTTGTA ENSP00000493720.1:n.*872-244_*872-240delinsTTGTA
ENST00000647013.1:c.2482-244_2482-240delinsTTGTA ENSP00000496741.1:n.2482-244_2482-240delinsTTGTA
ENST00000647015.1:c.2227-244_2227-240delinsTTGTA ENSP00000495389.1:n.2227-244_2227-240delinsTTGTA
ENST00000647086.1:c.*2206-244_*2206-240delinsTTGTA ENSP00000493677.1:n.*2206-244_*2206-240delinsTTGTA
ENST00000647158.1:c.*617-244_*617-240delinsTTGTA ENSP00000495744.1:n.*617-244_*617-240delinsTTGTA
ENST00000302539.8:c.2479-244_2479-240delinsTTGTA ENSP00000303960.4:n.2479-244_2479-240delinsTTGTA
ENST00000389817.7:c.2476-244_2476-240delinsTTGTA ENSP00000374467.3:n.2476-244_2476-240delinsTTGTA
ENST00000526921.5:n.160-244_160-240delinsTTGTA
ENST00000527905.5:c.2446-244_2446-240delinsTTGTA ENSP00000431653.1:n.2446-244_2446-240delinsTTGTA
ENST00000529967.5:n.145-244_145-240delinsTTGTA
ENST00000530147.5:n.59-244_59-240delinsTTGTA
ENST00000531911.1:n.590-244_590-240delinsTTGTA
NM_000352.4:c.2476-244_2476-240delinsTTGTA NP_000343.2:n.2476-244_2476-240delinsTTGTA
NM_001287174.1:c.2479-244_2479-240delinsTTGTA NP_001274103.1:n.2479-244_2479-240delinsTTGTA
XM_011520331.1:c.2476-244_2476-240delinsTTGTA XP_011518633.1:n.2476-244_2476-240delinsTTGTA
XM_011520332.1:c.2479-244_2479-240delinsTTGTA XP_011518634.1:n.2479-244_2479-240delinsTTGTA
XM_011520333.1:c.976-244_976-240delinsTTGTA XP_011518635.1:n.976-244_976-240delinsTTGTA
XM_011520334.1:c.2479-244_2479-240delinsTTGTA XP_011518636.1:n.2479-244_2479-240delinsTTGTA
XR_930890.1:n.2542-244_2542-240delinsTTGTA
XR_930891.1:n.2542-244_2542-240delinsTTGTA
XR_930892.1:n.2542-244_2542-240delinsTTGTA
XR_930893.1:n.2539-244_2539-240delinsTTGTA
NM_001351295.1:c.2542-244_2542-240delinsTTGTA NP_001338224.1:n.2542-244_2542-240delinsTTGTA
NM_001351296.1:c.2476-244_2476-240delinsTTGTA NP_001338225.1:n.2476-244_2476-240delinsTTGTA
NM_001351297.1:c.2473-244_2473-240delinsTTGTA NP_001338226.1:n.2473-244_2473-240delinsTTGTA
NR_147094.1:n.2545-244_2545-240delinsTTGTA
XM_017018197.2:c.2545-244_2545-240delinsTTGTA XP_016873686.1:n.2545-244_2545-240delinsTTGTA
XM_017018199.1:c.2542-244_2542-240delinsTTGTA XP_016873688.1:n.2542-244_2542-240delinsTTGTA
XM_017018201.2:c.2545-244_2545-240delinsTTGTA XP_016873690.1:n.2545-244_2545-240delinsTTGTA
XM_017018202.1:c.1042-244_1042-240delinsTTGTA XP_016873691.1:n.1042-244_1042-240delinsTTGTA
XM_017018204.1:c.433-244_433-240delinsTTGTA XP_016873693.1:n.433-244_433-240delinsTTGTA
XM_024448668.1:c.844-244_844-240delinsTTGTA XP_024304436.1:n.844-244_844-240delinsTTGTA
XR_001747945.2:n.2617-244_2617-240delinsTTGTA
XR_001747946.2:n.2548-244_2548-240delinsTTGTA
XR_002957189.1:n.2617-244_2617-240delinsTTGTA
NM_000352.6:c.2476-244_2476-240delinsTTGTA MANE Select NP_000343.2:n.2476-244_2476-240delinsTTGTA
NM_001287174.2:c.2479-244_2479-240delinsTTGTA NP_001274103.1:n.2479-244_2479-240delinsTTGTA
NM_001351295.2:c.2542-244_2542-240delinsTTGTA NP_001338224.1:n.2542-244_2542-240delinsTTGTA
NM_001351296.2:c.2476-244_2476-240delinsTTGTA NP_001338225.1:n.2476-244_2476-240delinsTTGTA
NM_001351297.2:c.2473-244_2473-240delinsTTGTA NP_001338226.1:n.2473-244_2473-240delinsTTGTA
NR_147094.2:n.2545-244_2545-240delinsTTGTA
NM_001287174.3:c.2479-244_2479-240delinsTTGTA NP_001274103.1:n.2479-244_2479-240delinsTTGTA