Linked Data
ClinVar Variation Id:
17178
ClinVar RCV Id:
RCV000018718
dbSNP Id:
rs797044458
PubMed:
PMID:16130093
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45997703del , CM000683.2:g.45997703del | GRCh38 |
| NC_000021.8:g.47417617del , CM000683.1:g.47417617del | GRCh37 |
| NC_000021.7:g.46242045del | NCBI36 |
| NG_008674.1:g.20955del , LRG_475:g.20955del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683550.1:n.240del | ||
| ENST00000361866.8:c.1465del MANE Select | ENSP00000355180.3:p.Ala489ProfsTer16 | |
| ENST00000361866.7:c.1465del | ENSP00000355180.3:p.Ala489ProfsTer16 | |
| ENST00000612273.1:c.1465del | ENSP00000483630.1:p.Ala489ProfsTer16 | |
| NM_001848.2:c.1465del , LRG_475t1:c.1465del | NP_001839.2:p.Ala489ProfsTer16 | |
| NM_001848.3:c.1465del MANE Select | NP_001839.2:p.Ala489ProfsTer16 |