Canonical Allele Identifier: CA248485
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 196880

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395890_17395892del , CM000673.2:g.17395890_17395892del GRCh38
NC_000011.9:g.17417437_17417439del , CM000673.1:g.17417437_17417439del GRCh37
NC_000011.8:g.17374013_17374015del NCBI36
NG_008867.1:g.86013_86015del

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.4160_4162del VV NP_000343.2:p.Phe1387del
NM_001287174.1:c.4163_4165del VV NP_001274103.1:p.Phe1388del
XM_011520331.1:c.4160_4162del XP_011518633.1:p.Phe1387del
XM_011520332.1:c.4163_4165del XP_011518634.1:p.Phe1388del
XM_011520333.1:c.2660_2662del XP_011518635.1:p.Phe887del
XR_930890.1:n.4226_4228del
NM_001351295.1:c.4226_4228del VV NP_001338224.1:p.Phe1409del
NM_001351296.1:c.4160_4162del VV NP_001338225.1:p.Phe1387del
NM_001351297.1:c.4157_4159del VV NP_001338226.1:p.Phe1386del
NR_147094.1:n.4455_4457del
XM_017018197.2:c.4229_4231del XP_016873686.1:p.Phe1410del
XM_017018199.1:c.4226_4228del XP_016873688.1:p.Phe1409del
XM_017018201.2:c.4229_4231del XP_016873690.1:p.Phe1410del
XM_017018202.1:c.2726_2728del XP_016873691.1:p.Phe909del
XM_017018204.1:c.2117_2119del XP_016873693.1:p.Phe706del
XM_024448668.1:c.2528_2530del XP_024304436.1:p.Phe843del
XR_001747945.2:n.4301_4303del
XR_001747946.2:n.4232_4234del
XR_002957189.1:n.5882_5884del
ENST00000302539.8:c.4163_4165del ENSP00000303960.4:p.Phe1388del
ENST00000389817.7:c.4160_4162del ENSP00000374467.3:p.Phe1387del
ENST00000525022.1:n.26_28del
ENST00000526168.5:n.28_30del