Identifiers and link-outs to other resources
ClinVar Variation Id:
429036
ClinVar RCV Id:
RCV000492851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43084851_43094146del , CM000679.2:g.43084851_43094146del | GRCh38 |
| NC_000017.10:g.41236868_41246163del , CM000679.1:g.41236868_41246163del | GRCh37 |
| NC_000017.9:g.38490394_38499689del | NCBI36 |
| NG_005905.2:g.123837_133132del , LRG_292:g.123837_133132del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_007294.3:c.1384_4186-2277del , LRG_292t1:c.1384_4186-2277del | ||
| NM_007297.3:c.1243_4045-2277del VV | ||
| NM_007298.3:c.787+597_877-2277del VV | ||
| NM_007299.3:c.787+597_877-2277del VV | ||
| NM_007300.3:c.1384_4186-2277del VV | ||
| NR_027676.1:n.1520_4322-2277del | ||
| NM_007294.4:c.1384_4186-2277del VV MANE Preferred | ||
| NM_007297.4:c.1243_4045-2277del VV | ||
| NM_007299.4:c.787+597_877-2277del VV | ||
| NM_007300.4:c.1384_4186-2277del VV | ||
| NR_027676.2:n.1561_4363-2277del | ||
| ENST00000352993.7:c.670+1699_760-2277del | ||
| ENST00000357654.7:c.1384_4186-2277del | ||
| ENST00000461221.5:c.*1167_*3969-2277del | ||
| ENST00000468300.5:c.787+597_877-2277del | ||
| ENST00000471181.6:c.1384_4186-2277del | ||
| ENST00000478531.5:c.784+597_874-2277del | ||
| ENST00000484087.5:n.409+597_499-2277del | ||
| ENST00000487825.5:n.412+597_502-2277del | ||
| ENST00000491747.6:c.787+597_877-2277del | ||
| ENST00000493795.5:c.1243_4045-2277del | ||
| ENST00000493919.5:c.646+597_736-2277del | ||
| ENST00000586385.5:c.5-30196_5-20901del | ENSP00000465818.1:p.= | |
| ENST00000591534.5:c.-43-19626_-43-10331del | ENSP00000467329.1:p.= | |
| ENST00000591849.5:c.-99+31124_-98-34662del | ENSP00000465347.1:p.= |