Linked Data
ClinVar Variation Id:
193559
dbSNP Id:
rs111033813
ExAC:
9:34649550 AC / A
gnomAD v2:
9-34649550-AC-A
gnomAD v4:
9-34649553-AC-A
MyVariant Identifiers:
chr9:g.34649554del (hg19)
chr9:g.34649551del (hg19)
chr9:g.34649554delC (hg19)
chr9:g.34649557del (hg38)
chr9:g.34649555del (hg38)
chr9:g.34649554del (hg38)
PubMed:
PMID:10408771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649557del , CM000671.2:g.34649557del | GRCh38 |
| NC_000009.11:g.34649554del , CM000671.1:g.34649554del | GRCh37 |
| NC_000009.10:g.34639554del | NCBI36 |
| NG_009029.1:g.7920del | |
| NG_028966.1:g.2373del | |
| NG_009029.2:g.7969del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*640del | ENSP00000509954.1:n.*640del | |
| ENST00000378842.8:c.1052del MANE Select | ENSP00000368119.4:p.Pro351LeufsTer8 | |
| ENST00000378842.7:c.1052del | ENSP00000368119.3:p.Pro351LeufsTer8 | |
| ENST00000450095.6:c.725del | ENSP00000401956.2:p.Pro242LeufsTer8 | |
| ENST00000488412.2:n.636del | ||
| ENST00000489643.6:n.1460del | ||
| ENST00000554550.5:c.*672del | ENSP00000451435.1:n.*672del | |
| ENST00000554638.5:n.1524del | ||
| ENST00000555020.5:n.1841del | ||
| ENST00000555754.1:n.500del | ||
| ENST00000556278.1:c.432+1101del | ENSP00000451792.1:n.432+1101del | |
| ENST00000557706.5:n.1627del | ||
| NM_000155.3:c.1052del | NP_000146.2:p.Pro351LeufsTer8 | |
| NM_001258332.1:c.725del | NP_001245261.1:p.Pro242LeufsTer8 | |
| NM_000155.4:c.1052del MANE Select | NP_000146.2:p.Pro351LeufsTer8 | |
| NM_001258332.2:c.725del | NP_001245261.1:p.Pro242LeufsTer8 |