WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
204176
ClinVar RCV Id:
RCV000186383
dbSNP Id:
rs180177171
ExAC:
2:241808402 CG / C
gnomAD v2:
2-241808402-CG-C
gnomAD v4:
2-240868985-CG-C
COSMIC:
COSM308997
MyVariant Identifiers:
chr2:g.241808408del (hg19)
chr2:g.241808403del (hg19)
chr2:g.240868991del (hg38)
chr2:g.240868986del (hg38)
PubMed:
PMID:17495019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868991del , CM000664.2:g.240868991del | GRCh38 |
| NC_000002.11:g.241808408del , CM000664.1:g.241808408del | GRCh37 |
| NC_000002.10:g.241457081del | NCBI36 |
| NG_008005.1:g.5247del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.126del MANE Select | ENSP00000302620.3:p.Leu43CysfsTer3 | |
| ENST00000307503.3:c.126del | ENSP00000302620.3:p.Leu43CysfsTer3 | |
| ENST00000472436.1:n.146del | ||
| NM_000030.2:c.126del | NP_000021.1:p.Leu43CysfsTer3 | |
| XR_924060.1:n.405+1247del | ||
| NM_000030.3:c.126del MANE Select | NP_000021.1:p.Leu43CysfsTer3 |