Canonical Allele Identifier: CA16041437
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371155
ClinVar RCV Id: RCV000412039
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
NM_000352.4:c.4119+1del VV
NM_001287174.1:c.4122+1del VV
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 VV
NM_001351296.1:c.4119+1del VV
NM_001351297.1:c.4116+1del VV
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
ENST00000302539.8:c.4122+1del
ENST00000389817.7:c.4119+1del
ENST00000527905.5:c.*1142del ENSP00000431653.1:p.=
ENST00000528374.1:n.601+1del
ENST00000532220.1:n.593+1del