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:
223209
ClinVar RCV Id:
RCV000208791
dbSNP Id:
rs869025651
COSMIC:
COSM14412
CIViC:
CA357015
PCER:
P-CER:CA357015/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146604del , CM000665.2:g.10146604del | GRCh38 |
| NC_000003.11:g.10188288del , CM000665.1:g.10188288del | GRCh37 |
| NC_000003.10:g.10163288del | NCBI36 |
| NG_008212.3:g.9970del , LRG_322:g.9970del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*108del | ENSP00000512434.1:n.*108del | |
| ENST00000696143.1:c.600-3183del | ENSP00000512435.1:n.600-3183del | |
| ENST00000696153.1:c.431del | ENSP00000512444.1:p.Gly144AspfsTer25 | |
| ENST00000256474.3:c.431del MANE Select | ENSP00000256474.3:p.Gly144AspfsTer15 | |
| ENST00000256474.2:c.431del | ENSP00000256474.2:p.Gly144AspfsTer15 | |
| ENST00000345392.2:c.341-3183del | ENSP00000344757.2:n.341-3183del | |
| ENST00000477538.1:n.567del | ||
| NM_000551.3:c.431del , LRG_322t1:c.431del | NP_000542.1:p.Gly144AspfsTer15 | |
| NM_198156.2:c.341-3183del | NP_937799.1:n.341-3183del | |
| NM_001354723.1:c.*18-3183del | NP_001341652.1:n.*18-3183del | |
| NM_000551.4:c.431del MANE Select | NP_000542.1:p.Gly144AspfsTer15 | |
| NM_001354723.2:c.*18-3183del | NP_001341652.1:n.*18-3183del | |
| NM_198156.3:c.341-3183del | NP_937799.1:n.341-3183del |