Canonical Allele Identifier: CA16041437
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 371155
dbSNP Id: rs1057517050

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396916del , CM000673.2:g.17396916del GRCh38
NC_000011.9:g.17418463del , CM000673.1:g.17418463del GRCh37
NC_000011.8:g.17375039del NCBI36
NG_008867.1:g.84988del

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3720+1del
ENST00000528374.2:c.710+1del
ENST00000529967.6:n.2458+1del
ENST00000532220.2:n.2368del
ENST00000642611.2:n.4335del
ENST00000644057.2:n.562+1del
ENST00000645004.2:n.1618+1del
ENST00000682051.1:n.4281+1del
ENST00000682110.1:n.4334+1del
ENST00000682140.1:c.3985+278del ENSP00000507829.1:n.3985+278del
ENST00000682185.1:n.5424+1del
ENST00000682204.1:c.*2257+1del
ENST00000682215.1:n.4701+1del
ENST00000682288.1:c.*2550+1del
ENST00000682442.1:n.4554+1del
ENST00000682528.1:n.4411+1del
ENST00000682673.1:n.4278+1del
ENST00000682805.1:n.4702del
ENST00000682965.1:c.*541+1del
ENST00000683093.1:n.4434del
ENST00000683136.1:c.4002+1del
ENST00000683153.1:n.4376+1del
ENST00000683365.1:n.4436+1del
ENST00000683377.1:n.4334+1del
ENST00000683456.1:c.*1256+1del
ENST00000683522.1:n.4334+1del
ENST00000683562.1:c.*2288+1del
ENST00000683693.1:n.4782del
ENST00000683725.1:c.4119+1del
ENST00000684010.1:n.4329+1del
ENST00000684157.1:n.4335del
ENST00000684253.1:n.4237+1del
ENST00000684288.1:c.*2291+1del
ENST00000684313.1:n.3766+1del
ENST00000684332.1:n.4407+1del
ENST00000684371.1:n.4440+1del
ENST00000684404.1:n.4378del
ENST00000684442.1:n.4558+1del
ENST00000684555.1:c.*2331+1del
ENST00000684571.1:c.3960+1del
ENST00000684593.1:c.*3824+1del
ENST00000684711.1:c.*2515+1del
ENST00000302539.9:c.4122+1del
ENST00000389817.8:c.4119+1del
ENST00000642271.1:c.4116+1del
ENST00000642579.1:c.2173+1del
ENST00000642611.1:n.4220del
ENST00000642902.1:c.3901+1del
ENST00000643260.1:c.4119+1del
ENST00000643562.1:c.*2241+1del
ENST00000643925.1:c.2759+1del
ENST00000644057.1:n.196+1del
ENST00000644484.1:c.*2521del ENSP00000493558.1:n.*2521del
ENST00000644675.1:c.*2291+1del
ENST00000644757.1:c.*2551del ENSP00000495085.1:n.*2551del
ENST00000644772.1:c.4185+1del
ENST00000645004.1:n.1775del
ENST00000645076.1:c.3318+1del
ENST00000645417.1:c.1307+1del
ENST00000645744.1:c.*2900del ENSP00000494564.1:n.*2900del
ENST00000645760.1:c.4540+1del
ENST00000645884.1:c.*1402+1del
ENST00000646003.1:c.*2221+1del
ENST00000646207.1:c.*2956+1del
ENST00000646276.1:c.*2539del ENSP00000496070.1:n.*2539del
ENST00000646592.1:c.3425+1del
ENST00000646902.1:c.4086+1del
ENST00000646993.1:c.*2661+1del
ENST00000647013.1:c.4125+1del
ENST00000647015.1:c.3870+1del
ENST00000647086.1:c.*3705+1del
ENST00000647158.1:c.*2406+1del
ENST00000302539.8:c.4122+1del
ENST00000389817.7:c.4119+1del
ENST00000527905.5:c.*1142del ENSP00000431653.1:n.*1142del
ENST00000528374.1:c.601+1del
ENST00000532220.1:n.593+1del
NM_000352.4:c.4119+1del
NM_001287174.1:c.4122+1del
XM_011520331.1:c.4119+1del
XM_011520332.1:c.4122+1del
XM_011520333.1:c.2619+1del
XR_930890.1:n.4185+1del
NM_001351295.1:c.4185+1del
NM_001351296.1:c.4119+1del
NM_001351297.1:c.4116+1del
NR_147094.1:n.4414+1del
XM_017018197.2:c.4188+1del
XM_017018199.1:c.4185+1del
XM_017018201.2:c.4188+1del
XM_017018202.1:c.2685+1del
XM_017018204.1:c.2076+1del
XM_024448668.1:c.2487+1del
XR_001747945.2:n.4260+1del
XR_001747946.2:n.4191+1del
XR_002957189.1:n.4857del
NM_000352.6:c.4119+1del
NM_001287174.2:c.4122+1del
NM_001351295.2:c.4185+1del
NM_001351296.2:c.4119+1del
NM_001351297.2:c.4116+1del
NR_147094.2:n.4414+1del
NM_001287174.3:c.4122+1del