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:
56041
ClinVar RCV Id:
RCV000049450
dbSNP Id:
rs386833522
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6592966_6592967insTTTG , CM000671.2:g.6592966_6592967insTTTG | GRCh38 |
| NC_000009.11:g.6592966_6592967insTTTG , CM000671.1:g.6592966_6592967insTTTG | GRCh37 |
| NC_000009.10:g.6582966_6582967insTTTG | NCBI36 |
| NG_016397.1:g.57726_57727insCAAA , LRG_643:g.57726_57727insCAAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321612.8:c.1285_1286insCAAA MANE Select | ENSP00000370737.4:p.Leu429ProfsTer5 | |
| ENST00000639364.1:n.985_986insCAAA | ||
| ENST00000639443.1:n.853_854insCAAA | ||
| ENST00000639493.1:n.437_438insCAAA | ||
| ENST00000639954.1:n.993_994insCAAA | ||
| ENST00000640592.1:n.1168_1169insCAAA | ||
| ENST00000640703.1:n.128_129insCAAA | ||
| ENST00000321612.6:c.1285_1286insCAAA | ENSP00000370737.3:p.Leu429ProfsTer5 | |
| ENST00000463305.1:n.369_370insCAAA | ||
| NM_000170.2:c.1285_1286insCAAA , LRG_643t1:c.1285_1286insCAAA | NP_000161.2:p.Leu429ProfsTer5 | |
| NM_000170.3:c.1285_1286insCAAA MANE Select | NP_000161.2:p.Leu429ProfsTer5 |