Linked Data
ClinVar Variation Id:
25113
ClinVar RCV Id:
RCV000022039
dbSNP Id:
rs111033638
gnomAD v4:
9-34646720-AC-A
MyVariant Identifiers:
chr9:g.34646719del (hg19)
chr9:g.34646718del (hg19)
chr9:g.34646719delC (hg19)
chr9:g.34646722del (hg38)
PubMed:
PMID:15775761
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34646722del , CM000671.2:g.34646722del | GRCh38 |
| NC_000009.11:g.34646719del , CM000671.1:g.34646719del | GRCh37 |
| NC_000009.10:g.34636719del | NCBI36 |
| NG_009029.1:g.5085del | |
| NG_009029.2:g.5134del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.18del | ENSP00000509954.1:p.Asp7IlefsTer? | |
| ENST00000378842.8:c.18del MANE Select | ENSP00000368119.4:p.Asp7IlefsTer? | |
| ENST00000378842.7:c.18del | ENSP00000368119.3:p.Asp7IlefsTer? | |
| ENST00000450095.6:c.-185del | ENSP00000401956.2:n.-185del | |
| ENST00000465543.6:n.55del | ||
| ENST00000468099.2:n.90del | ||
| ENST00000472111.5:n.59del | ||
| ENST00000473506.6:c.18del | ENSP00000432839.2:p.Asp7IlefsTer? | |
| ENST00000473529.5:n.65del | ||
| ENST00000487381.5:n.44del | ||
| ENST00000489643.6:n.48del | ||
| ENST00000554085.5:c.18del | ENSP00000450419.1:p.Asp7IlefsTer? | |
| ENST00000554139.5:n.71del | ||
| ENST00000554550.5:c.18del | ENSP00000451435.1:p.Asp7IlefsTer? | |
| ENST00000554638.5:n.42del | ||
| ENST00000554897.5:c.18del | ENSP00000450942.1:p.Asp7IlefsTer? | |
| ENST00000554944.5:n.48del | ||
| ENST00000555020.5:n.48del | ||
| ENST00000555214.5:n.27del | ||
| ENST00000556278.1:c.18del | ENSP00000451792.1:p.Asp7IlefsTer? | |
| ENST00000557541.5:n.78del | ||
| ENST00000605275.1:n.254del | ||
| NM_000155.3:c.18del | NP_000146.2:p.Asp7IlefsTer? | |
| NM_001258332.1:c.-185del | NP_001245261.1:n.-185del | |
| NM_000155.4:c.18del MANE Select | NP_000146.2:p.Asp7IlefsTer? | |
| NM_001258332.2:c.-185del | NP_001245261.1:n.-185del |