Canonical Allele Identifier: CA2612641343
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396508_17396509del , CM000673.2:g.17396508_17396509del GRCh38
NC_000011.9:g.17418055_17418056del , CM000673.1:g.17418055_17418056del GRCh37
NC_000011.8:g.17374631_17374632del NCBI36
NG_008867.1:g.85394_85395del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3720+407_3720+408del
ENST00000528374.2:c.710+407_710+408del
ENST00000529967.6:n.2458+407_2458+408del
ENST00000532220.2:n.2774_2775del
ENST00000642611.2:n.4741_4742del
ENST00000644057.2:n.562+407_562+408del
ENST00000645004.2:n.1618+407_1618+408del
ENST00000682051.1:n.4281+407_4281+408del
ENST00000682110.1:n.4334+407_4334+408del
ENST00000682140.1:c.3986-579_3986-578del ENSP00000507829.1:n.3986-579_3986-578del
ENST00000682185.1:n.5424+407_5424+408del
ENST00000682204.1:c.*2257+407_*2257+408del ENSP00000507094.1:n.*2257+407_*2257+408del
ENST00000682215.1:n.4701+407_4701+408del
ENST00000682288.1:c.*2550+407_*2550+408del ENSP00000507506.1:n.*2550+407_*2550+408del
ENST00000682442.1:n.4554+407_4554+408del
ENST00000682528.1:n.4411+407_4411+408del
ENST00000682673.1:n.4278+407_4278+408del
ENST00000682805.1:n.4739+369_4739+370del
ENST00000682965.1:c.*541+407_*541+408del ENSP00000508229.1:n.*541+407_*541+408del
ENST00000683093.1:n.4840_4841del
ENST00000683136.1:c.4002+407_4002+408del ENSP00000507768.1:n.4002+407_4002+408del
ENST00000683153.1:n.4376+407_4376+408del
ENST00000683365.1:n.4436+407_4436+408del
ENST00000683377.1:n.4334+407_4334+408del
ENST00000683456.1:c.*1256+407_*1256+408del ENSP00000508318.1:n.*1256+407_*1256+408del
ENST00000683522.1:n.4334+407_4334+408del
ENST00000683562.1:c.*2288+407_*2288+408del ENSP00000508265.1:n.*2288+407_*2288+408del
ENST00000683693.1:n.5188_5189del
ENST00000683725.1:c.4119+407_4119+408del ENSP00000507496.1:n.4119+407_4119+408del
ENST00000684010.1:n.4329+407_4329+408del
ENST00000684157.1:n.4741_4742del
ENST00000684253.1:n.4237+407_4237+408del
ENST00000684288.1:c.*2291+407_*2291+408del ENSP00000507143.1:n.*2291+407_*2291+408del
ENST00000684313.1:n.3766+407_3766+408del
ENST00000684332.1:n.4407+407_4407+408del
ENST00000684371.1:n.4440+407_4440+408del
ENST00000684404.1:n.4784_4785del
ENST00000684442.1:n.4558+407_4558+408del
ENST00000684555.1:c.*2331+407_*2331+408del ENSP00000507705.1:n.*2331+407_*2331+408del
ENST00000684571.1:c.3960+407_3960+408del ENSP00000506935.1:n.3960+407_3960+408del
ENST00000684593.1:c.*3824+407_*3824+408del ENSP00000507005.1:n.*3824+407_*3824+408del
ENST00000684711.1:c.*2515+407_*2515+408del ENSP00000506841.1:n.*2515+407_*2515+408del
ENST00000302539.9:c.4122+407_4122+408del ENSP00000303960.4:n.4122+407_4122+408del
ENST00000389817.8:c.4119+407_4119+408del MANE Select ENSP00000374467.4:n.4119+407_4119+408del
ENST00000642271.1:c.4116+407_4116+408del ENSP00000493749.1:n.4116+407_4116+408del
ENST00000642579.1:c.2173+407_2173+408del
ENST00000642611.1:n.4626_4627del
ENST00000642902.1:c.3901+407_3901+408del
ENST00000643260.1:c.4119+407_4119+408del ENSP00000494450.1:n.4119+407_4119+408del
ENST00000643562.1:c.*2241+407_*2241+408del ENSP00000496124.1:n.*2241+407_*2241+408del
ENST00000643925.1:c.2759+407_2759+408del
ENST00000644057.1:n.196+407_196+408del
ENST00000644484.1:c.*2927_*2928del ENSP00000493558.1:n.*2927_*2928del
ENST00000644675.1:c.*2291+407_*2291+408del ENSP00000494567.1:n.*2291+407_*2291+408del
ENST00000644757.1:c.*2957_*2958del ENSP00000495085.1:n.*2957_*2958del
ENST00000644772.1:c.4185+407_4185+408del ENSP00000494321.1:n.4185+407_4185+408del
ENST00000645004.1:n.1812+369_1812+370del
ENST00000645076.1:c.3318+407_3318+408del
ENST00000645417.1:c.1307+407_1307+408del
ENST00000645744.1:c.*3306_*3307del ENSP00000494564.1:n.*3306_*3307del
ENST00000645760.1:c.4540+407_4540+408del
ENST00000645884.1:c.*1402+407_*1402+408del ENSP00000495516.1:n.*1402+407_*1402+408del
ENST00000646003.1:c.*2221+407_*2221+408del ENSP00000495259.1:n.*2221+407_*2221+408del
ENST00000646207.1:c.*2956+407_*2956+408del ENSP00000495025.1:n.*2956+407_*2956+408del
ENST00000646276.1:c.*2945_*2946del ENSP00000496070.1:n.*2945_*2946del
ENST00000646592.1:c.3425+407_3425+408del
ENST00000646902.1:c.4086+407_4086+408del ENSP00000494101.1:n.4086+407_4086+408del
ENST00000646993.1:c.*2661+407_*2661+408del ENSP00000493720.1:n.*2661+407_*2661+408del
ENST00000647013.1:c.4125+407_4125+408del ENSP00000496741.1:n.4125+407_4125+408del
ENST00000647015.1:c.3870+407_3870+408del ENSP00000495389.1:n.3870+407_3870+408del
ENST00000647086.1:c.*3705+407_*3705+408del ENSP00000493677.1:n.*3705+407_*3705+408del
ENST00000647158.1:c.*2406+407_*2406+408del ENSP00000495744.1:n.*2406+407_*2406+408del
ENST00000302539.8:c.4122+407_4122+408del ENSP00000303960.4:n.4122+407_4122+408del
ENST00000389817.7:c.4119+407_4119+408del ENSP00000374467.3:n.4119+407_4119+408del
ENST00000528374.1:c.601+407_601+408del
ENST00000532220.1:n.593+407_593+408del
NM_000352.4:c.4119+407_4119+408del NP_000343.2:n.4119+407_4119+408del
NM_001287174.1:c.4122+407_4122+408del NP_001274103.1:n.4122+407_4122+408del
XM_011520331.1:c.4119+407_4119+408del XP_011518633.1:n.4119+407_4119+408del
XM_011520332.1:c.4122+407_4122+408del XP_011518634.1:n.4122+407_4122+408del
XM_011520333.1:c.2619+407_2619+408del XP_011518635.1:n.2619+407_2619+408del
XR_930890.1:n.4185+407_4185+408del
NM_001351295.1:c.4185+407_4185+408del NP_001338224.1:n.4185+407_4185+408del
NM_001351296.1:c.4119+407_4119+408del NP_001338225.1:n.4119+407_4119+408del
NM_001351297.1:c.4116+407_4116+408del NP_001338226.1:n.4116+407_4116+408del
NR_147094.1:n.4414+407_4414+408del
XM_017018197.2:c.4188+407_4188+408del XP_016873686.1:n.4188+407_4188+408del
XM_017018199.1:c.4185+407_4185+408del XP_016873688.1:n.4185+407_4185+408del
XM_017018201.2:c.4188+407_4188+408del XP_016873690.1:n.4188+407_4188+408del
XM_017018202.1:c.2685+407_2685+408del XP_016873691.1:n.2685+407_2685+408del
XM_017018204.1:c.2076+407_2076+408del XP_016873693.1:n.2076+407_2076+408del
XM_024448668.1:c.2487+407_2487+408del XP_024304436.1:n.2487+407_2487+408del
XR_001747945.2:n.4260+407_4260+408del
XR_001747946.2:n.4191+407_4191+408del
XR_002957189.1:n.5263_5264del
NM_000352.6:c.4119+407_4119+408del MANE Select NP_000343.2:n.4119+407_4119+408del
NM_001287174.2:c.4122+407_4122+408del NP_001274103.1:n.4122+407_4122+408del
NM_001351295.2:c.4185+407_4185+408del NP_001338224.1:n.4185+407_4185+408del
NM_001351296.2:c.4119+407_4119+408del NP_001338225.1:n.4119+407_4119+408del
NM_001351297.2:c.4116+407_4116+408del NP_001338226.1:n.4116+407_4116+408del
NR_147094.2:n.4414+407_4414+408del
NM_001287174.3:c.4122+407_4122+408del NP_001274103.1:n.4122+407_4122+408del