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:
55051
ClinVar RCV Id:
RCV000257479
dbSNP Id:
rs397509119
PubMed:
PMID:15131401
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091607del , CM000679.2:g.43091607del | GRCh38 |
| NC_000017.10:g.41243624del , CM000679.1:g.41243624del | GRCh37 |
| NC_000017.9:g.38497150del | NCBI36 |
| NG_005905.2:g.126379del , LRG_292:g.126379del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.3990del | ||
| ENST00000461574.2:c.3926del | ENSP00000417241.2:p.Asn1309IlefsTer9 | |
| ENST00000470026.6:c.3926del | ENSP00000419274.2:p.Asn1309IlefsTer9 | |
| ENST00000473961.6:c.3800del | ENSP00000420201.2:p.Asn1267IlefsTer9 | |
| ENST00000476777.6:c.3923del | ENSP00000417554.2:p.Asn1308IlefsTer9 | |
| ENST00000477152.6:c.3848del | ENSP00000419988.2:p.Asn1283IlefsTer9 | |
| ENST00000478531.6:c.785-573del | ENSP00000420412.2:n.785-573del | |
| ENST00000489037.2:c.3848del | ENSP00000420781.2:p.Asn1283IlefsTer9 | |
| ENST00000493919.6:c.647-573del | ENSP00000418819.2:n.647-573del | |
| ENST00000494123.6:c.3926del | ENSP00000419103.2:p.Asn1309IlefsTer9 | |
| ENST00000497488.2:c.3038del | ENSP00000418986.2:p.Asn1013IlefsTer9 | |
| ENST00000618469.2:c.3926del | ENSP00000478114.2:p.Asn1309IlefsTer9 | |
| ENST00000634433.2:c.3803del | ENSP00000489431.2:p.Asn1268IlefsTer9 | |
| ENST00000644379.2:c.3926del | ENSP00000496570.2:p.Asn1309IlefsTer9 | |
| ENST00000644555.2:c.647-573del | ENSP00000494614.2:n.647-573del | |
| ENST00000652672.2:c.3785del | ENSP00000498906.2:p.Asn1262IlefsTer9 | |
| ENST00000484087.6:c.665-573del | ENSP00000419481.2:n.665-573del | |
| ENST00000700182.1:c.707-573del | ENSP00000514849.1:n.707-573del | |
| ENST00000357654.9:c.3926del MANE Select | ENSP00000350283.3:p.Asn1309IlefsTer9 | |
| ENST00000471181.7:c.3926del | ENSP00000418960.2:p.Asn1309IlefsTer9 | |
| ENST00000644379.1:c.247del | ||
| ENST00000352993.7:c.671-573del | ENSP00000312236.5:n.671-573del | |
| ENST00000354071.7:c.3926del | ENSP00000326002.7:p.Asn1309IlefsTer9 | |
| ENST00000357654.7:c.3926del | ENSP00000350283.3:p.Asn1309IlefsTer9 | |
| ENST00000461221.5:c.*3709del | ENSP00000418548.1:n.*3709del | |
| ENST00000461574.1:c.220del | ||
| ENST00000468300.5:c.788-573del | ENSP00000417148.1:n.788-573del | |
| ENST00000471181.6:c.3926del | ENSP00000418960.2:p.Asn1309IlefsTer9 | |
| ENST00000478531.5:c.785-573del | ENSP00000420412.1:n.785-573del | |
| ENST00000484087.5:c.410-573del | ENSP00000419481.1:n.410-573del | |
| ENST00000487825.5:c.413-573del | ENSP00000418212.1:n.413-573del | |
| ENST00000491747.6:c.788-573del | ENSP00000420705.2:n.788-573del | |
| ENST00000493795.5:c.3785del | ENSP00000418775.1:p.Asn1262IlefsTer9 | |
| ENST00000493919.5:c.647-573del | ENSP00000418819.1:n.647-573del | |
| ENST00000586385.5:c.5-27654del | ENSP00000465818.1:n.5-27654del | |
| ENST00000591534.5:c.-43-17084del | ENSP00000467329.1:n.-43-17084del | |
| ENST00000591849.5:c.-99+33666del | ENSP00000465347.1:n.-99+33666del | |
| NM_007294.3:c.3926del , LRG_292t1:c.3926del | NP_009225.1:p.Asn1309IlefsTer9 | |
| NM_007297.3:c.3785del | NP_009228.2:p.Asn1262IlefsTer9 | |
| NM_007298.3:c.788-573del | NP_009229.2:n.788-573del | |
| NM_007299.3:c.788-573del | NP_009230.2:n.788-573del | |
| NM_007300.3:c.3926del | NP_009231.2:p.Asn1309IlefsTer9 | |
| NR_027676.1:n.4062del | ||
| NM_007294.4:c.3926del MANE Select | NP_009225.1:p.Asn1309IlefsTer9 | |
| NM_007297.4:c.3785del | NP_009228.2:p.Asn1262IlefsTer9 | |
| NM_007299.4:c.788-573del | NP_009230.2:n.788-573del | |
| NM_007300.4:c.3926del | NP_009231.2:p.Asn1309IlefsTer9 | |
| NR_027676.2:n.4103del |