Linked Data
ClinVar Variation Id:
15253
ClinVar RCV Id:
RCV000016461
dbSNP Id:
rs63749958
PubMed:
PMID:4407311
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226965_5226970del , CM000673.2:g.5226965_5226970del | GRCh38 |
| NC_000011.9:g.5248195_5248200del , CM000673.1:g.5248195_5248200del | GRCh37 |
| NC_000011.8:g.5204771_5204776del | NCBI36 |
| NG_000007.3:g.70648_70653del | |
| NG_059281.1:g.5104_5109del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.54_59del | ENSP00000494175.1:p.Lys18_Val19del | |
| ENST00000335295.4:c.54_59del MANE Select | ENSP00000333994.3:p.Lys18_Val19del | |
| ENST00000380315.2:c.54_59del | ENSP00000369671.2:p.Lys18_Val19del | |
| ENST00000485743.1:n.105_110del | ||
| ENST00000633227.1:c.54_59del | ENSP00000488004.1:p.Lys18_Val19del | |
| NM_000518.4:c.54_59del | NP_000509.1:p.Lys18_Val19del | |
| NM_000518.5:c.54_59del MANE Select | NP_000509.1:p.Lys18_Val19del |