Linked Data
ClinVar Variation Id:
287749
ClinVar RCV Id:
RCV000374975
dbSNP Id:
rs886043716
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85963720_85963723del , CM000685.2:g.85963720_85963723del | GRCh38 |
| NC_000023.10:g.85218725_85218728del , CM000685.1:g.85218725_85218728del | GRCh37 |
| NC_000023.9:g.85105381_85105384del | NCBI36 |
| NG_009874.2:g.88845_88848del , LRG_699:g.88845_88848del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357749.7:c.649_652del MANE Select | ENSP00000350386.2:p.Tyr217HisfsTer14 | |
| ENST00000357749.6:c.649_652del | ENSP00000350386.2:p.Tyr217HisfsTer14 | |
| ENST00000467744.2:n.126+63773_126+63776del | ||
| NM_000390.2:c.649_652del , LRG_699t1:c.649_652del | NP_000381.1:p.Tyr217HisfsTer14 | |
| XM_006724615.2:c.586_589del | XP_006724678.1:p.Tyr196HisfsTer14 | |
| XM_011530839.1:c.205_208del | XP_011529141.1:p.Tyr69HisfsTer14 | |
| NM_000390.3:c.649_652del | NP_000381.1:p.Tyr217HisfsTer14 | |
| NM_001320959.1:c.205_208del | NP_001307888.1:p.Tyr69HisfsTer14 | |
| NM_001362517.1:c.205_208del | NP_001349446.1:p.Tyr69HisfsTer14 | |
| NM_001362518.1:c.205_208del | NP_001349447.1:p.Tyr69HisfsTer14 | |
| NM_001362519.1:c.205_208del | NP_001349448.1:p.Tyr69HisfsTer14 | |
| XM_017029242.2:c.649_652del | XP_016884731.1:p.Tyr217HisfsTer14 | |
| XM_017029246.1:c.205_208del | XP_016884735.1:p.Tyr69HisfsTer14 | |
| XM_024452331.1:c.205_208del | XP_024308099.1:p.Tyr69HisfsTer14 | |
| NM_000390.4:c.649_652del MANE Select | NP_000381.1:p.Tyr217HisfsTer14 | |
| NM_001362518.2:c.205_208del | NP_001349447.1:p.Tyr69HisfsTer14 |