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:
65547
ClinVar RCV Id:
RCV000055741
dbSNP Id:
rs80338662
PubMed:
PMID:20301751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235752077del , CM000663.2:g.235752077del | GRCh38 |
| NC_000001.10:g.235915377del , CM000663.1:g.235915377del | GRCh37 |
| NC_000001.9:g.233982000del | NCBI36 |
| NG_007397.1:g.136564del , LRG_143:g.136564del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461526.2:c.2230del | ENSP00000513165.1:p.Tyr744IlefsTer10 | |
| ENST00000697178.1:c.*2979del | ENSP00000513163.1:n.*2979del | |
| ENST00000697236.1:c.1264del | ENSP00000513203.1:p.Tyr422IlefsTer10 | |
| ENST00000697241.1:c.2035del | ENSP00000513206.1:p.Tyr679IlefsTer10 | |
| ENST00000389793.7:c.7555del MANE Select | ENSP00000374443.2:p.Tyr2519IlefsTer10 | |
| ENST00000389793.6:c.7555del | ENSP00000374443.2:p.Tyr2519IlefsTer10 | |
| ENST00000389794.7:c.*2979del | ENSP00000374444.4:n.*2979del | |
| ENST00000487530.2:c.95del | ||
| NM_000081.3:c.7555del , LRG_143t1:c.7555del | NP_000072.2:p.Tyr2519IlefsTer10 | |
| NM_001301365.1:c.7555del , LRG_143t2:c.7555del | NP_001288294.1:p.Tyr2519IlefsTer10 | |
| XM_011544031.1:c.7555del | XP_011542333.1:p.Tyr2519IlefsTer10 | |
| XM_011544032.1:c.7555del | XP_011542334.1:p.Tyr2519IlefsTer10 | |
| XM_011544033.1:c.7555del | XP_011542335.1:p.Tyr2519IlefsTer10 | |
| XM_011544034.1:c.7417del | XP_011542336.1:p.Tyr2473IlefsTer10 | |
| XM_011544035.1:c.7555del | XP_011542337.1:p.Tyr2519IlefsTer10 | |
| XM_011544036.1:c.5218del | XP_011542338.1:p.Tyr1740IlefsTer10 | |
| XM_011544037.1:c.7555del | XP_011542339.1:p.Tyr2519IlefsTer10 | |
| XM_011544038.1:c.7555del | XP_011542340.1:p.Tyr2519IlefsTer10 | |
| XM_011544039.1:c.7555del | XP_011542341.1:p.Tyr2519IlefsTer10 | |
| XM_011544033.2:c.7555del | XP_011542335.1:p.Tyr2519IlefsTer10 | |
| XM_011544035.2:c.7555del | XP_011542337.1:p.Tyr2519IlefsTer10 | |
| XM_011544036.2:c.5218del | XP_011542338.1:p.Tyr1740IlefsTer10 | |
| XM_011544037.2:c.7555del | XP_011542339.1:p.Tyr2519IlefsTer10 | |
| XM_011544039.2:c.7555del | XP_011542341.1:p.Tyr2519IlefsTer10 | |
| XM_017000150.1:c.7555del | XP_016855639.1:p.Tyr2519IlefsTer10 | |
| XR_001736946.2:n.7737del | ||
| XR_001736947.1:n.7737del | ||
| XR_001736948.1:n.7411+3401del | ||
| NM_000081.4:c.7555del MANE Select | NP_000072.2:p.Tyr2519IlefsTer10 |