Linked Data
ClinVar Variation Id:
222622
ClinVar RCV Id:
RCV000208498
dbSNP Id:
rs869025423
PubMed:
PMID:21542060
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48427621_48427622del , CM000677.2:g.48427621_48427622del | GRCh38 |
| NC_000015.9:g.48719818_48719819del , CM000677.1:g.48719818_48719819del | GRCh37 |
| NC_000015.8:g.46507110_46507111del | NCBI36 |
| NG_008805.2:g.223169_223170del , LRG_778:g.223169_223170del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.7213_7214del | ENSP00000453958.2:p.Trp2405AlafsTer? | |
| ENST00000674301.2:c.*664_*665del | ENSP00000501333.2:n.*664_*665del | |
| ENST00000682170.1:n.1332_1333del | ||
| ENST00000682767.1:n.448_449del | ||
| ENST00000316623.10:c.7151_7152del MANE Select | ENSP00000325527.5:p.Val2384GlyfsTer21 | |
| ENST00000674301.1:c.2317_2318del | ENSP00000501333.1:n.2317_2318del | |
| ENST00000316623.9:c.7151_7152del | ENSP00000325527.5:p.Val2384GlyfsTer21 | |
| ENST00000559133.5:c.2520_2521del | ||
| NM_000138.4:c.7151_7152del , LRG_778t1:c.7151_7152del | NP_000129.3:p.Val2384GlyfsTer21 | |
| NM_000138.5:c.7151_7152del MANE Select | NP_000129.3:p.Val2384GlyfsTer21 |