Linked Data
ClinVar Variation Id:
25237
dbSNP Id:
rs111033742
gnomAD v4:
9-34648420-GC-G
PubMed:
PMID:17876724
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648421del , CM000671.2:g.34648421del | GRCh38 |
| NC_000009.11:g.34648418del , CM000671.1:g.34648418del | GRCh37 |
| NC_000009.10:g.34638418del | NCBI36 |
| NG_009029.1:g.6784del | |
| NG_028966.1:g.1237del | |
| NG_009029.2:g.6833del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*240del | ENSP00000509954.1:n.*240del | |
| ENST00000378842.8:c.652del MANE Select | ENSP00000368119.4:p.Leu218Ter | |
| ENST00000378842.7:c.652del | ENSP00000368119.3:p.Leu218Ter | |
| ENST00000450095.6:c.325del | ENSP00000401956.2:p.Leu109Ter | |
| ENST00000472111.5:n.908del | ||
| ENST00000473506.6:c.*240del | ENSP00000432839.2:n.*240del | |
| ENST00000473529.5:n.811del | ||
| ENST00000487381.5:n.1037del | ||
| ENST00000489643.6:n.427del | ||
| ENST00000554085.5:c.*396del | ENSP00000450419.1:n.*396del | |
| ENST00000554550.5:c.*272del | ENSP00000451435.1:n.*272del | |
| ENST00000554638.5:n.1124del | ||
| ENST00000555020.5:n.808del | ||
| ENST00000555086.5:n.656del | ||
| ENST00000555214.5:n.473del | ||
| ENST00000556244.1:c.639del | ||
| ENST00000556278.1:c.397del | ENSP00000451792.1:p.Leu133Ter | |
| ENST00000556494.5:n.773del | ||
| ENST00000557706.5:n.1214del | ||
| NM_000155.3:c.652del | NP_000146.2:p.Leu218Ter | |
| NM_001258332.1:c.325del | NP_001245261.1:p.Leu109Ter | |
| NM_000155.4:c.652del MANE Select | NP_000146.2:p.Leu218Ter | |
| NM_001258332.2:c.325del | NP_001245261.1:p.Leu109Ter |