Canonical Allele Identifier: CA16041449
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370506
ClinVar RCV Id: RCV000411725
dbSNP Id: rs1057516542

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17427885_17427886del , CM000673.2:g.17427885_17427886del GRCh38
NC_000011.9:g.17449432_17449433del , CM000673.1:g.17449432_17449433del GRCh37
NC_000011.8:g.17406008_17406009del NCBI36
NG_008867.1:g.54018_54019del

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.2098_2099del VV NP_000343.2:p.Thr700HisfsTer?
NM_001287174.1:c.2098_2099del VV NP_001274103.1:p.Thr700HisfsTer?
XM_011520331.1:c.2095_2096del XP_011518633.1:p.Thr699HisfsTer?
XM_011520332.1:c.2098_2099del XP_011518634.1:p.Thr700HisfsTer?
XM_011520333.1:c.595_596del XP_011518635.1:p.Thr199HisfsTer?
XM_011520334.1:c.2098_2099del XP_011518636.1:p.Thr700HisfsTer?
XR_930890.1:n.2161_2162del
XR_930891.1:n.2161_2162del
XR_930892.1:n.2161_2162del
XR_930893.1:n.2161_2162del
NM_001351295.1:c.2164_2165del VV NP_001338224.1:p.Thr722HisfsTer?
NM_001351296.1:c.2095_2096del VV NP_001338225.1:p.Thr699HisfsTer?
NM_001351297.1:c.2095_2096del VV NP_001338226.1:p.Thr699HisfsTer?
NR_147094.1:n.2164_2165del
XM_017018197.2:c.2164_2165del XP_016873686.1:p.Thr722HisfsTer?
XM_017018199.1:c.2161_2162del XP_016873688.1:p.Thr721HisfsTer?
XM_017018201.2:c.2164_2165del XP_016873690.1:p.Thr722HisfsTer?
XM_017018202.1:c.661_662del XP_016873691.1:p.Thr221HisfsTer?
XM_017018204.1:c.55_56del XP_016873693.1:p.Thr19HisfsTer?
XM_024448668.1:c.463_464del XP_024304436.1:p.Thr155HisfsTer?
XR_001747945.2:n.2236_2237del
XR_001747946.2:n.2170_2171del
XR_002957189.1:n.2236_2237del
ENST00000302539.8:c.2098_2099del ENSP00000303960.4:p.Thr700HisfsTer?
ENST00000389817.7:c.2098_2099del ENSP00000374467.3:p.Thr700HisfsTer?
ENST00000527905.5:c.2068_2069del ENSP00000431653.1:p.Thr690HisfsTer?
ENST00000531911.1:n.209_210del