Canonical Allele Identifier: CA2573146246
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1452477
ClinVar RCV Id: RCV002037667
dbSNP Id: rs2133401493

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395719del , CM000673.2:g.17395719del GRCh38
NC_000011.9:g.17417266del , CM000673.1:g.17417266del GRCh37
NC_000011.8:g.17373842del NCBI36
NG_008867.1:g.86186del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3801del
ENST00000528374.2:c.791del
ENST00000529967.6:n.2539del
ENST00000532220.2:n.3433del
ENST00000642611.2:n.5533del
ENST00000644057.2:n.776del
ENST00000645004.2:n.1699del
ENST00000682051.1:n.4362del
ENST00000682110.1:n.4415del
ENST00000682140.1:c.4066del
ENST00000682185.1:n.5505del
ENST00000682204.1:c.*2338del
ENST00000682215.1:n.4782del
ENST00000682288.1:c.*2631del
ENST00000682442.1:n.4635del
ENST00000682528.1:n.4492del
ENST00000682673.1:n.4359del
ENST00000682805.1:n.4820del
ENST00000682965.1:c.*622del
ENST00000683093.1:n.5499del
ENST00000683136.1:c.4083del
ENST00000683153.1:n.4457del
ENST00000683365.1:n.4517del
ENST00000683377.1:n.4415del
ENST00000683456.1:c.*1337del
ENST00000683522.1:n.4415del
ENST00000683562.1:c.*2369del
ENST00000683693.1:n.5980del
ENST00000683725.1:c.4200del
ENST00000684010.1:n.4410del
ENST00000684157.1:n.5400del
ENST00000684253.1:n.4318del
ENST00000684288.1:c.*2372del
ENST00000684313.1:n.3847del
ENST00000684332.1:n.4488del
ENST00000684371.1:n.4521del
ENST00000684404.1:n.5443del
ENST00000684442.1:n.4639del
ENST00000684555.1:c.*2412del
ENST00000684571.1:c.4041del
ENST00000684593.1:c.*3905del
ENST00000684711.1:c.*2596del
ENST00000302539.9:c.4203del
ENST00000389817.8:c.4200del
ENST00000642271.1:c.4197del
ENST00000642579.1:c.2254del
ENST00000642611.1:n.5418del
ENST00000642902.1:c.3982del
ENST00000643260.1:c.4200del
ENST00000643562.1:c.*2322del
ENST00000643925.1:c.2840del
ENST00000644057.1:n.277del
ENST00000644484.1:c.*3586del
ENST00000644675.1:c.*2372del
ENST00000644757.1:c.*3202+547del ENSP00000495085.1:n.*3202+547del
ENST00000644772.1:c.4266del
ENST00000645004.1:n.1893del
ENST00000645076.1:c.3399del
ENST00000645417.1:c.1388del
ENST00000645744.1:c.*3964-79del ENSP00000494564.1:n.*3964-79del
ENST00000645760.1:c.4621del
ENST00000645884.1:c.*1483del
ENST00000646003.1:c.*2301-79del ENSP00000495259.1:n.*2301-79del
ENST00000646207.1:c.*3037del
ENST00000646276.1:c.*3604del
ENST00000646592.1:c.3506del
ENST00000646902.1:c.4167del
ENST00000646993.1:c.*2742del
ENST00000647013.1:c.4206del
ENST00000647015.1:c.3951del
ENST00000647086.1:c.*3786del
ENST00000647158.1:c.*2487del
ENST00000302539.8:c.4203del
ENST00000389817.7:c.4200del
ENST00000525022.1:n.199del
ENST00000526037.5:n.64del
ENST00000526168.5:c.67-79del
ENST00000531642.5:c.36del
NM_000352.4:c.4200del
NM_001287174.1:c.4203del
XM_011520331.1:c.4200del
XM_011520332.1:c.4203del
XM_011520333.1:c.2700del
XR_930890.1:n.4266del
NM_001351295.1:c.4266del
NM_001351296.1:c.4200del
NM_001351297.1:c.4197del
NR_147094.1:n.4495del
XM_017018197.2:c.4269del
XM_017018199.1:c.4266del
XM_017018201.2:c.4269del
XM_017018202.1:c.2766del
XM_017018204.1:c.2157del
XM_024448668.1:c.2568del
XR_001747945.2:n.4341del
XR_001747946.2:n.4272del
XR_002957189.1:n.6055del
NM_000352.6:c.4200del
NM_001287174.2:c.4203del
NM_001351295.2:c.4266del
NM_001351296.2:c.4200del
NM_001351297.2:c.4197del
NR_147094.2:n.4495del
NM_001287174.3:c.4203del