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:
55066
ClinVar RCV Id:
RCV000112222
dbSNP Id:
rs80357904
PubMed:
PMID:21702907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091558del , CM000679.2:g.43091558del | GRCh38 |
| NC_000017.10:g.41243575del , CM000679.1:g.41243575del | GRCh37 |
| NC_000017.9:g.38497101del | NCBI36 |
| NG_005905.2:g.126426del , LRG_292:g.126426del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.4037del | ||
| ENST00000461574.2:c.3973del | ENSP00000417241.2:p.Arg1325GlyfsTer11 | |
| ENST00000470026.6:c.3973del | ENSP00000419274.2:p.Arg1325GlyfsTer11 | |
| ENST00000473961.6:c.3847del | ENSP00000420201.2:p.Arg1283GlyfsTer11 | |
| ENST00000476777.6:c.3970del | ENSP00000417554.2:p.Arg1324GlyfsTer11 | |
| ENST00000477152.6:c.3895del | ENSP00000419988.2:p.Arg1299GlyfsTer11 | |
| ENST00000478531.6:c.785-526del | ENSP00000420412.2:n.785-526del | |
| ENST00000489037.2:c.3895del | ENSP00000420781.2:p.Arg1299GlyfsTer11 | |
| ENST00000493919.6:c.647-526del | ENSP00000418819.2:n.647-526del | |
| ENST00000494123.6:c.3973del | ENSP00000419103.2:p.Arg1325GlyfsTer11 | |
| ENST00000497488.2:c.3085del | ENSP00000418986.2:p.Arg1029GlyfsTer11 | |
| ENST00000618469.2:c.3973del | ENSP00000478114.2:p.Arg1325GlyfsTer11 | |
| ENST00000634433.2:c.3850del | ENSP00000489431.2:p.Arg1284GlyfsTer11 | |
| ENST00000644379.2:c.3973del | ENSP00000496570.2:p.Arg1325GlyfsTer11 | |
| ENST00000644555.2:c.647-526del | ENSP00000494614.2:n.647-526del | |
| ENST00000652672.2:c.3832del | ENSP00000498906.2:p.Arg1278GlyfsTer11 | |
| ENST00000484087.6:c.665-526del | ENSP00000419481.2:n.665-526del | |
| ENST00000700182.1:c.707-526del | ENSP00000514849.1:n.707-526del | |
| ENST00000357654.9:c.3973del MANE Select | ENSP00000350283.3:p.Arg1325GlyfsTer11 | |
| ENST00000471181.7:c.3973del | ENSP00000418960.2:p.Arg1325GlyfsTer11 | |
| ENST00000644379.1:c.294del | ||
| ENST00000352993.7:c.671-526del | ENSP00000312236.5:n.671-526del | |
| ENST00000354071.7:c.3973del | ENSP00000326002.7:p.Arg1325GlyfsTer11 | |
| ENST00000357654.7:c.3973del | ENSP00000350283.3:p.Arg1325GlyfsTer11 | |
| ENST00000461221.5:c.*3756del | ENSP00000418548.1:n.*3756del | |
| ENST00000461574.1:c.267del | ||
| ENST00000468300.5:c.788-526del | ENSP00000417148.1:n.788-526del | |
| ENST00000471181.6:c.3973del | ENSP00000418960.2:p.Arg1325GlyfsTer11 | |
| ENST00000478531.5:c.785-526del | ENSP00000420412.1:n.785-526del | |
| ENST00000484087.5:c.410-526del | ENSP00000419481.1:n.410-526del | |
| ENST00000487825.5:c.413-526del | ENSP00000418212.1:n.413-526del | |
| ENST00000491747.6:c.788-526del | ENSP00000420705.2:n.788-526del | |
| ENST00000493795.5:c.3832del | ENSP00000418775.1:p.Arg1278GlyfsTer11 | |
| ENST00000493919.5:c.647-526del | ENSP00000418819.1:n.647-526del | |
| ENST00000586385.5:c.5-27607del | ENSP00000465818.1:n.5-27607del | |
| ENST00000591534.5:c.-43-17037del | ENSP00000467329.1:n.-43-17037del | |
| ENST00000591849.5:c.-99+33713del | ENSP00000465347.1:n.-99+33713del | |
| NM_007294.3:c.3973del , LRG_292t1:c.3973del | NP_009225.1:p.Arg1325GlyfsTer11 | |
| NM_007297.3:c.3832del | NP_009228.2:p.Arg1278GlyfsTer11 | |
| NM_007298.3:c.788-526del | NP_009229.2:n.788-526del | |
| NM_007299.3:c.788-526del | NP_009230.2:n.788-526del | |
| NM_007300.3:c.3973del | NP_009231.2:p.Arg1325GlyfsTer11 | |
| NR_027676.1:n.4109del | ||
| NM_007294.4:c.3973del MANE Select | NP_009225.1:p.Arg1325GlyfsTer11 | |
| NM_007297.4:c.3832del | NP_009228.2:p.Arg1278GlyfsTer11 | |
| NM_007299.4:c.788-526del | NP_009230.2:n.788-526del | |
| NM_007300.4:c.3973del | NP_009231.2:p.Arg1325GlyfsTer11 | |
| NR_027676.2:n.4150del |