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:
181872
ClinVar RCV Id:
RCV000159630
dbSNP Id:
rs730881301
MyVariant Identifiers:
chr11:g.108141849_108141851delinsGCCAA (hg19)
chr11:g.108271122_108271124delinsGCCAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108271122_108271124delinsGCCAA , CM000673.2:g.108271122_108271124delinsGCCAA | GRCh38 |
| NC_000011.9:g.108141849_108141851delinsGCCAA , CM000673.1:g.108141849_108141851delinsGCCAA | GRCh37 |
| NC_000011.8:g.107647059_107647061delinsGCCAA | NCBI36 |
| NG_009830.1:g.53291_53293delinsGCCAA , LRG_135:g.53291_53293delinsGCCAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.2897_2899delinsGCCAA | ENSP00000388058.2:p.Val966GlyfsTer6 | |
| ENST00000713593.1:c.*2368_*2370delinsGCCAA | ENSP00000518889.1:n.*2368_*2370delinsGCCA... | |
| ENST00000278616.9:c.2897_2899delinsGCCAA | ENSP00000278616.4:p.Val966GlyfsTer6 | |
| ENST00000682516.1:n.2831_2833delinsGCCAA | ||
| ENST00000683174.1:n.3047_3049delinsGCCAA | ||
| ENST00000684037.1:c.*1632_*1634delinsGCCAA | ENSP00000508245.1:n.*1632_*1634delinsGCCA... | |
| ENST00000527805.6:c.2897_2899delinsGCCAA | ENSP00000435747.2:p.Val966GlyfsTer6 | |
| ENST00000675595.1:c.2732_2734delinsGCCAA | ENSP00000502563.1:p.Val911GlyfsTer6 | |
| ENST00000675843.1:c.2897_2899delinsGCCAA MANE Select | ENSP00000501606.1:p.Val966GlyfsTer6 | |
| ENST00000278616.8:c.2897_2899delinsGCCAA | ENSP00000278616.4:p.Val966GlyfsTer6 | |
| ENST00000419286.2:n.201-129_201-127delinsGCCAA | ||
| ENST00000452508.6:c.2897_2899delinsGCCAA | ENSP00000388058.2:p.Val966GlyfsTer6 | |
| ENST00000527805.5:c.2897_2899delinsGCCAA | ENSP00000435747.1:p.Val966GlyfsTer6 | |
| NM_000051.3:c.2897_2899delinsGCCAA , LRG_135t1:c.2897_2899delinsGCCAA | NP_000042.3:p.Val966GlyfsTer6 | |
| XM_005271561.3:c.2897_2899delinsGCCAA | XP_005271618.2:p.Val966GlyfsTer6 | |
| XM_005271562.3:c.2897_2899delinsGCCAA | XP_005271619.2:p.Val966GlyfsTer6 | |
| XM_006718843.2:c.2897_2899delinsGCCAA | XP_006718906.1:p.Val966GlyfsTer6 | |
| XM_011542840.1:c.2897_2899delinsGCCAA | XP_011541142.1:p.Val966GlyfsTer6 | |
| XM_011542841.1:c.2897_2899delinsGCCAA | XP_011541143.1:p.Val966GlyfsTer6 | |
| XM_011542842.1:c.2732_2734delinsGCCAA | XP_011541144.1:p.Val911GlyfsTer6 | |
| XM_011542843.1:c.2897_2899delinsGCCAA | XP_011541145.1:p.Val966GlyfsTer6 | |
| XM_011542844.1:c.1853_1855delinsGCCAA | XP_011541146.1:p.Val618GlyfsTer6 | |
| XM_011542845.1:c.1589_1591delinsGCCAA | XP_011541147.1:p.Val530GlyfsTer6 | |
| XM_011542846.1:c.2897_2899delinsGCCAA | XP_011541148.1:p.Val966GlyfsTer6 | |
| NM_001351834.1:c.2897_2899delinsGCCAA | NP_001338763.1:p.Val966GlyfsTer6 | |
| XM_005271562.5:c.2897_2899delinsGCCAA | XP_005271619.2:p.Val966GlyfsTer6 | |
| XM_006718843.4:c.2897_2899delinsGCCAA | XP_006718906.1:p.Val966GlyfsTer6 | |
| XM_011542840.3:c.2897_2899delinsGCCAA | XP_011541142.1:p.Val966GlyfsTer6 | |
| XM_011542842.3:c.2732_2734delinsGCCAA | XP_011541144.1:p.Val911GlyfsTer6 | |
| XM_011542843.2:c.2897_2899delinsGCCAA | XP_011541145.1:p.Val966GlyfsTer6 | |
| XM_011542844.3:c.1853_1855delinsGCCAA | XP_011541146.1:p.Val618GlyfsTer6 | |
| XM_011542845.2:c.1589_1591delinsGCCAA | XP_011541147.1:p.Val530GlyfsTer6 | |
| XM_017017789.2:c.2897_2899delinsGCCAA | XP_016873278.1:p.Val966GlyfsTer6 | |
| XM_017017790.2:c.2897_2899delinsGCCAA | XP_016873279.1:p.Val966GlyfsTer6 | |
| XM_017017791.1:c.2897_2899delinsGCCAA | XP_016873280.1:p.Val966GlyfsTer6 | |
| XM_017017792.2:c.2897_2899delinsGCCAA | XP_016873281.1:p.Val966GlyfsTer6 | |
| XR_002957150.1:n.3630_3632delinsGCCAA | ||
| NM_001351834.2:c.2897_2899delinsGCCAA | NP_001338763.1:p.Val966GlyfsTer6 | |
| NM_000051.4:c.2897_2899delinsGCCAA MANE Select | NP_000042.3:p.Val966GlyfsTer6 |