Linked Data
ClinVar Variation Id:
15424
dbSNP Id:
rs267607297
MyVariant Identifiers:
chr11:g.5248014del (hg19)
chr11:g.5248012del (hg19)
chr11:g.5226784del (hg38)
chr11:g.5226782del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226784del , CM000673.2:g.5226784del | GRCh38 |
| NC_000011.9:g.5248014del , CM000673.1:g.5248014del | GRCh37 |
| NC_000011.8:g.5204590del | NCBI36 |
| NG_000007.3:g.70834del | |
| NG_059281.1:g.5290del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.110del | ENSP00000494175.1:p.Pro37LeufsTer25 | |
| ENST00000335295.4:c.110del MANE Select | ENSP00000333994.3:p.Pro37LeufsTer25 | |
| ENST00000380315.2:c.110del | ENSP00000369671.2:p.Pro37LeufsTer25 | |
| ENST00000475226.1:n.42del | ||
| ENST00000485743.1:n.161del | ||
| ENST00000633227.1:c.94del | ENSP00000488004.1:p.Gly33AspfsTer6 | |
| NM_000518.4:c.110del | NP_000509.1:p.Pro37LeufsTer25 | |
| NM_000518.5:c.110del MANE Select | NP_000509.1:p.Pro37LeufsTer25 |