Linked Data
ClinVar Variation Id:
15532
ClinVar RCV Id:
RCV000016797
dbSNP Id:
rs35699671
PubMed:
PMID:1911355
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226792_5226794del , CM000673.2:g.5226792_5226794del | GRCh38 |
| NC_000011.9:g.5248022_5248024del , CM000673.1:g.5248022_5248024del | GRCh37 |
| NC_000011.8:g.5204598_5204600del | NCBI36 |
| NG_000007.3:g.70826_70828del | |
| NG_059281.1:g.5282_5284del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.102_104del | ENSP00000494175.1:p.Val35del | |
| ENST00000335295.4:c.102_104del MANE Select | ENSP00000333994.3:p.Val35del | |
| ENST00000380315.2:c.102_104del | ENSP00000369671.2:p.Val35del | |
| ENST00000475226.1:n.34_36del | ||
| ENST00000485743.1:n.153_155del | ||
| ENST00000633227.1:c.86_88del | ENSP00000488004.1:p.Trp29del | |
| NM_000518.4:c.102_104del | NP_000509.1:p.Val35del | |
| NM_000518.5:c.102_104del MANE Select | NP_000509.1:p.Val35del |