UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
42326
ClinVar RCV Id:
RCV000035162
dbSNP Id:
rs397515785
PubMed:
PMID:12068374
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48644730_48644740del , CM000677.2:g.48644730_48644740del | GRCh38 |
| NC_000015.9:g.48936927_48936937del , CM000677.1:g.48936927_48936937del | GRCh37 |
| NC_000015.8:g.46724219_46724229del | NCBI36 |
| NG_008805.2:g.6051_6061del , LRG_778:g.6051_6061del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.32_42del | ENSP00000453958.2:p.Leu11ArgfsTer? | |
| ENST00000674301.2:c.32_42del | ENSP00000501333.2:p.Leu11ArgfsTer? | |
| ENST00000316623.10:c.32_42del MANE Select | ENSP00000325527.5:p.Leu11ArgfsTer? | |
| ENST00000316623.9:c.32_42del | ENSP00000325527.5:p.Leu11ArgfsTer? | |
| ENST00000537463.6:c.32_42del | ENSP00000440294.2:p.Leu11ArgfsTer? | |
| ENST00000558230.1:n.95_105del | ||
| ENST00000560355.1:c.32_42del | ENSP00000453901.1:p.Leu11ArgfsTer? | |
| NM_000138.4:c.32_42del , LRG_778t1:c.32_42del | NP_000129.3:p.Leu11ArgfsTer? | |
| NM_000138.5:c.32_42del MANE Select | NP_000129.3:p.Leu11ArgfsTer? |