Linked Data
ClinVar Variation Id:
15345
ClinVar RCV Id:
RCV000016588
dbSNP Id:
rs63749858
PubMed:
PMID:2283297
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225611del , CM000673.2:g.5225611del | GRCh38 |
| NC_000011.9:g.5246841del , CM000673.1:g.5246841del | GRCh37 |
| NC_000011.8:g.5203417del | NCBI36 |
| NG_000007.3:g.72005del | |
| NG_059281.1:g.6461del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.431del | ENSP00000494175.1:p.His144ProfsTer15 | |
| ENST00000335295.4:c.431del MANE Select | ENSP00000333994.3:p.His144ProfsTer15 | |
| ENST00000633227.1:c.*247del | ENSP00000488004.1:n.*247del | |
| NM_000518.4:c.431del | NP_000509.1:p.His144ProfsTer15 | |
| NM_000518.5:c.431del MANE Select | NP_000509.1:p.His144ProfsTer15 |