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:
1499195
ClinVar RCV Id:
RCV002040153
dbSNP Id:
rs758638097
gnomAD v4:
11-118312698-A-AATGATAAAAACATAGGCGGTGATGAGG
MyVariant Identifiers:
chr11:g.118183413_118183414insATGATAAAAACATAGGCGGTGATGAGG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312716_118312742dup , CM000673.2:g.118312716_118312742dup | GRCh38 |
| NC_000011.9:g.118183431_118183457dup , CM000673.1:g.118183431_118183457dup | GRCh37 |
| NC_000011.8:g.117688641_117688667dup | NCBI36 |
| NG_007383.1:g.13137_13163dup , LRG_38:g.13137_13163dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361763.9:c.202_228dup MANE Select | ENSP00000354566.4:p.Gly76_Ser77insGlyAspG... | |
| ENST00000361763.8:c.202_228dup | ENSP00000354566.4:p.Gly76_Ser77insGlyAspG... | |
| ENST00000526146.5:n.748_774dup | ||
| ENST00000528435.5:n.755_781dup | ||
| ENST00000528600.1:c.184_210dup | ENSP00000433975.1:p.Gly70_Ser71insGlyAspG... | |
| ENST00000529713.5:n.308_334dup | ||
| ENST00000531913.1:n.573_599dup | ||
| NM_000733.3:c.202_228dup , LRG_38t1:c.202_228dup | NP_000724.1:p.Gly76_Ser77insGlyAspGluAspA... | |
| NM_000733.4:c.202_228dup MANE Select | NP_000724.1:p.Gly76_Ser77insGlyAspGluAspA... |