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:
132124
ClinVar RCV Id:
RCV000119011
dbSNP Id:
rs515726197
PubMed:
PMID:24741716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102208272del , CM000670.2:g.102208272del | GRCh38 |
| NC_000008.10:g.103220500del , CM000670.1:g.103220500del | GRCh37 |
| NC_000008.9:g.103289676del | NCBI36 |
| NG_016617.1:g.35850del , LRG_788:g.35850del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251810.8:c.920del MANE Select | ENSP00000251810.3:p.Asn307IlefsTer11 | |
| ENST00000251810.7:c.920del | ENSP00000251810.3:p.Asn307IlefsTer11 | |
| ENST00000395910.6:n.307del | ||
| ENST00000395912.6:c.764del | ENSP00000379248.2:p.Asn255IlefsTer11 | |
| ENST00000519317.5:c.284del | ENSP00000430641.1:p.Asn95IlefsTer11 | |
| ENST00000519962.5:c.65del | ENSP00000429140.1:p.Asn22IlefsTer11 | |
| ENST00000522368.5:c.1089del | ||
| ENST00000522394.1:c.253del | ENSP00000429578.1:n.253del | |
| ENST00000621845.1:c.758del | ENSP00000484318.1:p.Asn253IlefsTer11 | |
| NM_001172477.1:c.1136del , LRG_788t1:c.1136del | NP_001165948.1:p.Asn379IlefsTer11 | |
| NM_001172478.1:c.764del | NP_001165949.1:p.Asn255IlefsTer11 | |
| NM_015713.4:c.920del , LRG_788t2:c.920del | NP_056528.2:p.Asn307IlefsTer11 | |
| NM_001172478.2:c.764del | NP_001165949.1:p.Asn255IlefsTer11 | |
| NM_015713.5:c.920del MANE Select | NP_056528.2:p.Asn307IlefsTer11 |