Canonical Allele Identifier: CA218408296
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs879633274
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395946_17395948del , CM000673.2:g.17395946_17395948del GRCh38
NC_000011.9:g.17417493_17417495del , CM000673.1:g.17417493_17417495del GRCh37
NC_000011.8:g.17374069_17374071del NCBI36
NG_008867.1:g.85957_85959del

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3721-16_3721-14del
ENST00000528374.2:c.711-16_711-14del
ENST00000529967.6:n.2459-16_2459-14del
ENST00000532220.2:n.3337_3339del
ENST00000642611.2:n.5304_5306del
ENST00000644057.2:n.563-16_563-14del
ENST00000645004.2:n.1619-16_1619-14del
ENST00000682051.1:n.4282-16_4282-14del
ENST00000682110.1:n.4335-16_4335-14del
ENST00000682140.1:c.3986-16_3986-14del ENSP00000507829.1:n.3986-16_3986-14del
ENST00000682185.1:n.5425-16_5425-14del
ENST00000682204.1:c.*2258-16_*2258-14del ENSP00000507094.1:n.*2258-16_*2258-14del
ENST00000682215.1:n.4702-16_4702-14del
ENST00000682288.1:c.*2551-16_*2551-14del ENSP00000507506.1:n.*2551-16_*2551-14del
ENST00000682442.1:n.4555-16_4555-14del
ENST00000682528.1:n.4412-16_4412-14del
ENST00000682673.1:n.4279-16_4279-14del
ENST00000682805.1:n.4740-16_4740-14del
ENST00000682965.1:c.*542-16_*542-14del ENSP00000508229.1:n.*542-16_*542-14del
ENST00000683093.1:n.5403_5405del
ENST00000683136.1:c.4003-16_4003-14del ENSP00000507768.1:n.4003-16_4003-14del
ENST00000683153.1:n.4377-16_4377-14del
ENST00000683365.1:n.4437-16_4437-14del
ENST00000683377.1:n.4335-16_4335-14del
ENST00000683456.1:c.*1257-16_*1257-14del ENSP00000508318.1:n.*1257-16_*1257-14del
ENST00000683522.1:n.4335-16_4335-14del
ENST00000683562.1:c.*2289-16_*2289-14del ENSP00000508265.1:n.*2289-16_*2289-14del
ENST00000683693.1:n.5751_5753del
ENST00000683725.1:c.4120-16_4120-14del ENSP00000507496.1:n.4120-16_4120-14del
ENST00000684010.1:n.4330-16_4330-14del
ENST00000684157.1:n.5304_5306del
ENST00000684253.1:n.4238-16_4238-14del
ENST00000684288.1:c.*2292-16_*2292-14del ENSP00000507143.1:n.*2292-16_*2292-14del
ENST00000684313.1:n.3767-16_3767-14del
ENST00000684332.1:n.4408-16_4408-14del
ENST00000684371.1:n.4441-16_4441-14del
ENST00000684404.1:n.5347_5349del
ENST00000684442.1:n.4559-16_4559-14del
ENST00000684555.1:c.*2332-16_*2332-14del ENSP00000507705.1:n.*2332-16_*2332-14del
ENST00000684571.1:c.3961-16_3961-14del ENSP00000506935.1:n.3961-16_3961-14del
ENST00000684593.1:c.*3825-16_*3825-14del ENSP00000507005.1:n.*3825-16_*3825-14del
ENST00000684711.1:c.*2516-16_*2516-14del ENSP00000506841.1:n.*2516-16_*2516-14del
ENST00000302539.9:c.4123-16_4123-14del ENSP00000303960.4:n.4123-16_4123-14del
ENST00000389817.8:c.4120-16_4120-14del MANE Select ENSP00000374467.4:n.4120-16_4120-14del
ENST00000642271.1:c.4117-16_4117-14del ENSP00000493749.1:n.4117-16_4117-14del
ENST00000642579.1:c.2174-16_2174-14del
ENST00000642611.1:n.5189_5191del
ENST00000642902.1:c.3902-16_3902-14del
ENST00000643260.1:c.4120-16_4120-14del ENSP00000494450.1:n.4120-16_4120-14del
ENST00000643562.1:c.*2242-16_*2242-14del ENSP00000496124.1:n.*2242-16_*2242-14del
ENST00000643925.1:c.2760-16_2760-14del
ENST00000644057.1:n.197-16_197-14del
ENST00000644484.1:c.*3490_*3492del ENSP00000493558.1:n.*3490_*3492del
ENST00000644675.1:c.*2292-16_*2292-14del ENSP00000494567.1:n.*2292-16_*2292-14del
ENST00000644757.1:c.*3202+318_*3202+320del ENSP00000495085.1:n.*3202+318_*3202+320de...
ENST00000644772.1:c.4186-16_4186-14del ENSP00000494321.1:n.4186-16_4186-14del
ENST00000645004.1:n.1813-16_1813-14del
ENST00000645076.1:c.3319-16_3319-14del
ENST00000645417.1:c.1308-16_1308-14del
ENST00000645744.1:c.*3869_*3871del ENSP00000494564.1:n.*3869_*3871del
ENST00000645760.1:c.4541-16_4541-14del
ENST00000645884.1:c.*1403-16_*1403-14del ENSP00000495516.1:n.*1403-16_*1403-14del
ENST00000646003.1:c.*2222-16_*2222-14del ENSP00000495259.1:n.*2222-16_*2222-14del
ENST00000646207.1:c.*2957-16_*2957-14del ENSP00000495025.1:n.*2957-16_*2957-14del
ENST00000646276.1:c.*3508_*3510del ENSP00000496070.1:n.*3508_*3510del
ENST00000646592.1:c.3426-16_3426-14del
ENST00000646902.1:c.4087-16_4087-14del ENSP00000494101.1:n.4087-16_4087-14del
ENST00000646993.1:c.*2662-16_*2662-14del ENSP00000493720.1:n.*2662-16_*2662-14del
ENST00000647013.1:c.4126-16_4126-14del ENSP00000496741.1:n.4126-16_4126-14del
ENST00000647015.1:c.3871-16_3871-14del ENSP00000495389.1:n.3871-16_3871-14del
ENST00000647086.1:c.*3706-16_*3706-14del ENSP00000493677.1:n.*3706-16_*3706-14del
ENST00000647158.1:c.*2407-16_*2407-14del ENSP00000495744.1:n.*2407-16_*2407-14del
ENST00000302539.8:c.4123-16_4123-14del ENSP00000303960.4:n.4123-16_4123-14del
ENST00000389817.7:c.4120-16_4120-14del ENSP00000374467.3:n.4120-16_4120-14del
ENST00000528374.1:c.602-16_602-14del
ENST00000532220.1:n.594-16_594-14del
NM_000352.4:c.4120-16_4120-14del NP_000343.2:n.4120-16_4120-14del
NM_001287174.1:c.4123-16_4123-14del NP_001274103.1:n.4123-16_4123-14del
XM_011520331.1:c.4120-16_4120-14del XP_011518633.1:n.4120-16_4120-14del
XM_011520332.1:c.4123-16_4123-14del XP_011518634.1:n.4123-16_4123-14del
XM_011520333.1:c.2620-16_2620-14del XP_011518635.1:n.2620-16_2620-14del
XR_930890.1:n.4186-16_4186-14del
NM_001351295.1:c.4186-16_4186-14del NP_001338224.1:n.4186-16_4186-14del
NM_001351296.1:c.4120-16_4120-14del NP_001338225.1:n.4120-16_4120-14del
NM_001351297.1:c.4117-16_4117-14del NP_001338226.1:n.4117-16_4117-14del
NR_147094.1:n.4415-16_4415-14del
XM_017018197.2:c.4189-16_4189-14del XP_016873686.1:n.4189-16_4189-14del
XM_017018199.1:c.4186-16_4186-14del XP_016873688.1:n.4186-16_4186-14del
XM_017018201.2:c.4189-16_4189-14del XP_016873690.1:n.4189-16_4189-14del
XM_017018202.1:c.2686-16_2686-14del XP_016873691.1:n.2686-16_2686-14del
XM_017018204.1:c.2077-16_2077-14del XP_016873693.1:n.2077-16_2077-14del
XM_024448668.1:c.2488-16_2488-14del XP_024304436.1:n.2488-16_2488-14del
XR_001747945.2:n.4261-16_4261-14del
XR_001747946.2:n.4192-16_4192-14del
XR_002957189.1:n.5826_5828del
NM_000352.6:c.4120-16_4120-14del MANE Select NP_000343.2:n.4120-16_4120-14del
NM_001287174.2:c.4123-16_4123-14del NP_001274103.1:n.4123-16_4123-14del
NM_001351295.2:c.4186-16_4186-14del NP_001338224.1:n.4186-16_4186-14del
NM_001351296.2:c.4120-16_4120-14del NP_001338225.1:n.4120-16_4120-14del
NM_001351297.2:c.4117-16_4117-14del NP_001338226.1:n.4117-16_4117-14del
NR_147094.2:n.4415-16_4415-14del
NM_001287174.3:c.4123-16_4123-14del NP_001274103.1:n.4123-16_4123-14del
Search 100 bp 5'
Search 100 bp 3'