Linked Data
ClinVar Variation Id:
6082
ClinVar RCV Id:
RCV000006455
dbSNP Id:
rs387906349
PubMed:
PMID:11773004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8076320del , CM000679.2:g.8076320del | GRCh38 |
| NC_000017.10:g.7979638del , CM000679.1:g.7979638del | GRCh37 |
| NC_000017.9:g.7920363del | NCBI36 |
| NG_007099.1:g.16386del | |
| NG_007099.2:g.16399del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647874.1:c.1389del MANE Select | ENSP00000497784.1:p.Phe463LeufsTer4 | |
| ENST00000649809.1:c.453del | ENSP00000496845.1:p.Phe151LeufsTer4 | |
| ENST00000319144.4:c.1389del | ENSP00000315167.4:p.Phe463LeufsTer4 | |
| ENST00000577351.5:n.336del | ||
| ENST00000583276.5:n.773del | ||
| ENST00000584116.1:n.645del | ||
| NM_001139.2:c.1389del | NP_001130.1:p.Phe463LeufsTer4 | |
| NM_001139.3:c.1389del MANE Select | NP_001130.1:p.Phe463LeufsTer4 |