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:
51127
dbSNP Id:
rs397507589
MyVariant Identifiers:
chr13:g.32907064_32907066delinsTTAC (hg19)
chr13:g.32332927_32332929delinsTTAC (hg38)
PubMed:
PMID:18528753
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32332927_32332929delinsTTAC , CM000675.2:g.32332927_32332929delinsTTAC | GRCh38 |
| NC_000013.10:g.32907064_32907066delinsTTAC , CM000675.1:g.32907064_32907066delinsTTAC | GRCh37 |
| NC_000013.9:g.31805064_31805066delinsTTAC | NCBI36 |
| NG_012772.3:g.22448_22450delinsTTAC , LRG_293:g.22448_22450delinsTTAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.1449_1451delinsTTAC | ENSP00000434898.2:p.Val484TyrfsTer30 | |
| ENST00000528762.2:c.1449_1451delinsTTAC | ENSP00000433168.2:p.Val484TyrfsTer30 | |
| ENST00000530893.7:c.1080_1082delinsTTAC | ENSP00000499438.2:p.Val361TyrfsTer30 | |
| ENST00000665585.2:c.1449_1451delinsTTAC | ENSP00000499570.2:p.Val484TyrfsTer30 | |
| ENST00000666593.2:c.1449_1451delinsTTAC | ENSP00000499256.2:p.Val484TyrfsTer30 | |
| ENST00000700202.2:c.1449_1451delinsTTAC | ENSP00000514856.2:p.Val484TyrfsTer30 | |
| ENST00000700201.1:c.*1228_*1230delinsTTAC | ENSP00000514855.1:n.*1228_*1230delinsTTAC... | |
| ENST00000380152.8:c.1449_1451delinsTTAC MANE Select | ENSP00000369497.3:p.Val484TyrfsTer30 | |
| ENST00000544455.6:c.1449_1451delinsTTAC | ENSP00000439902.1:p.Val484TyrfsTer30 | |
| ENST00000614259.2:c.1449_1451delinsTTAC | ENSP00000506251.1:p.Val484TyrfsTer30 | |
| ENST00000680887.1:c.1449_1451delinsTTAC | ENSP00000505508.1:p.Val484TyrfsTer30 | |
| ENST00000380152.7:c.1449_1451delinsTTAC | ENSP00000369497.3:p.Val484TyrfsTer30 | |
| ENST00000530893.6:n.1647_1649delinsTTAC | ||
| ENST00000544455.5:c.1449_1451delinsTTAC | ENSP00000439902.1:p.Val484TyrfsTer30 | |
| ENST00000614259.1:n.1449_1451delinsTTAC | ||
| NM_000059.3:c.1449_1451delinsTTAC , LRG_293t1:c.1449_1451delinsTTAC | NP_000050.2:p.Val484TyrfsTer30 | |
| XM_011535203.1:c.1449_1451delinsTTAC | XP_011533505.1:p.Val484TyrfsTer30 | |
| XM_011535204.1:c.1449_1451delinsTTAC | XP_011533506.1:p.Val484TyrfsTer30 | |
| XM_011535205.1:c.1449_1451delinsTTAC | XP_011533507.1:p.Val484TyrfsTer30 | |
| NM_000059.4:c.1449_1451delinsTTAC MANE Select | NP_000050.3:p.Val484TyrfsTer30 |