Linked Data
ClinVar Variation Id:
15426
dbSNP Id:
rs35383398
gnomAD v2:
11-5248206-A-AC
gnomAD v4:
11-5226976-A-AC
MyVariant Identifiers:
chr11:g.5248207dupC (hg19)
chr11:g.5248206_5248207insC (hg19)
chr11:g.5226977dupC (hg38)
chr11:g.5226976_5226977insC (hg38)
PubMed:
PMID:2901867
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226977dup , CM000673.2:g.5226977dup | GRCh38 |
| NC_000011.9:g.5248207dup , CM000673.1:g.5248207dup | GRCh37 |
| NC_000011.8:g.5204783dup | NCBI36 |
| NG_000007.3:g.70639dup | |
| NG_059281.1:g.5095dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.45dup | ENSP00000494175.1:p.Trp16ValfsTer8 | |
| ENST00000335295.4:c.45dup MANE Select | ENSP00000333994.3:p.Trp16ValfsTer8 | |
| ENST00000380315.2:c.45dup | ENSP00000369671.2:p.Trp16ValfsTer8 | |
| ENST00000485743.1:n.96dup | ||
| ENST00000633227.1:c.45dup | ENSP00000488004.1:p.Trp16ValfsTer8 | |
| NM_000518.4:c.45dup | NP_000509.1:p.Trp16ValfsTer8 | |
| NM_000518.5:c.45dup MANE Select | NP_000509.1:p.Trp16ValfsTer8 |