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:
251647
ClinVar RCV Id:
RCV000237686
dbSNP Id:
rs879254779
MyVariant Identifiers:
chr19:g.11222197delinsAGAGTGTCAGGATCCCGAC (hg19)
chr19:g.11111521delinsAGAGTGTCAGGATCCCGAC (hg38)
PubMed:
PMID:23375686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111521delinsAGAGTGTCAGGATCCCGAC , CM000681.2:g.11111521delinsAGAGTGTCAGGATCCCGAC | GRCh38 |
| NC_000019.9:g.11222197delinsAGAGTGTCAGGATCCCGAC , CM000681.1:g.11222197delinsAGAGTGTCAGGATCCCGAC | GRCh37 |
| NC_000019.8:g.11083197delinsAGAGTGTCAGGATCCCGAC | NCBI36 |
| NG_009060.1:g.27141delinsAGAGTGTCAGGATCCCGAC , LRG_274:g.27141delinsAGAGTGTCAGGATCCCGAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.1326delinsAGAGTGTCAGGATCCCGAC | ENSP00000252444.6:p.Ile441_Asp442insGluGl... | |
| ENST00000559340.2:c.1068delinsAGAGTGTCAGGATCCCGAC | ENSP00000453696.2:p.Ile355_Asp356insGluGl... | |
| ENST00000560467.2:c.948delinsAGAGTGTCAGGATCCCGAC | ENSP00000453513.2:p.Ile315_Asp316insGluGl... | |
| ENST00000558518.6:c.1068delinsAGAGTGTCAGGATCCCGAC MANE Select | ENSP00000454071.1:p.Ile355_Asp356insGluGl... | |
| ENST00000252444.9:c.1322delinsAGAGTGTCAGGATCCCGAC | ||
| ENST00000455727.6:c.564delinsAGAGTGTCAGGATCCCGAC | ENSP00000397829.2:p.Ile187_Asp188insGluGl... | |
| ENST00000535915.5:c.945delinsAGAGTGTCAGGATCCCGAC | ENSP00000440520.1:p.Ile314_Asp315insGluGl... | |
| ENST00000545707.5:c.687delinsAGAGTGTCAGGATCCCGAC | ENSP00000437639.1:p.Ile228_Asp229insGluGl... | |
| ENST00000557933.5:c.1068delinsAGAGTGTCAGGATCCCGAC | ENSP00000453557.1:p.Ile355_Asp356insGluGl... | |
| ENST00000558013.5:c.1068delinsAGAGTGTCAGGATCCCGAC | ENSP00000453346.1:p.Ile355_Asp356insGluGl... | |
| ENST00000558518.5:c.1068delinsAGAGTGTCAGGATCCCGAC | ENSP00000454071.1:p.Ile355_Asp356insGluGl... | |
| ENST00000560173.1:n.67delinsAGAGTGTCAGGATCCCGAC | ||
| ENST00000560467.1:c.548delinsAGAGTGTCAGGATCCCGAC | ||
| NM_000527.4:c.1068delinsAGAGTGTCAGGATCCCGAC , LRG_274t1:c.1068delinsAGAGTGTCAGGATCCCGAC | NP_000518.1:p.Ile355_Asp356insGluGluCysGl... | |
| NM_001195798.1:c.1068delinsAGAGTGTCAGGATCCCGAC | NP_001182727.1:p.Ile355_Asp356insGluGluCy... | |
| NM_001195799.1:c.945delinsAGAGTGTCAGGATCCCGAC | NP_001182728.1:p.Ile314_Asp315insGluGluCy... | |
| NM_001195800.1:c.564delinsAGAGTGTCAGGATCCCGAC | NP_001182729.1:p.Ile187_Asp188insGluGluCy... | |
| NM_001195803.1:c.687delinsAGAGTGTCAGGATCCCGAC | NP_001182732.1:p.Ile228_Asp229insGluGluCy... | |
| XM_011528010.1:c.1068delinsAGAGTGTCAGGATCCCGAC | XP_011526312.1:p.Ile355_Asp356insGluGluCy... | |
| XM_011528011.1:c.687delinsAGAGTGTCAGGATCCCGAC | XP_011526313.1:p.Ile228_Asp229insGluGluCy... | |
| XR_244074.2:n.1218delinsAGAGTGTCAGGATCCCGAC | ||
| XM_011528010.2:c.1068delinsAGAGTGTCAGGATCCCGAC | XP_011526312.1:p.Ile355_Asp356insGluGluCy... | |
| XR_001753685.2:n.1185delinsAGAGTGTCAGGATCCCGAC | ||
| XR_001753686.2:n.1185delinsAGAGTGTCAGGATCCCGAC | ||
| NM_000527.5:c.1068delinsAGAGTGTCAGGATCCCGAC MANE Select | NP_000518.1:p.Ile355_Asp356insGluGluCysGl... | |
| NM_001195798.2:c.1068delinsAGAGTGTCAGGATCCCGAC | NP_001182727.1:p.Ile355_Asp356insGluGluCy... | |
| NM_001195799.2:c.945delinsAGAGTGTCAGGATCCCGAC | NP_001182728.1:p.Ile314_Asp315insGluGluCy... | |
| NM_001195800.2:c.564delinsAGAGTGTCAGGATCCCGAC | NP_001182729.1:p.Ile187_Asp188insGluGluCy... | |
| NM_001195803.2:c.687delinsAGAGTGTCAGGATCCCGAC | NP_001182732.1:p.Ile228_Asp229insGluGluCy... |