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:
13854
ClinVar RCV Id:
RCV000014868
dbSNP Id:
rs587776804
COSMIC:
COSM1169
PubMed:
PMID:9438854
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54727420_54727434del , CM000666.2:g.54727420_54727434del | GRCh38 |
| NC_000004.11:g.55593586_55593600del , CM000666.1:g.55593586_55593600del | GRCh37 |
| NC_000004.10:g.55288343_55288357del | NCBI36 |
| NG_007456.1:g.74426_74440del , LRG_307:g.74426_74440del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412167.7:c.1643_1657del | ENSP00000390987.3:p.Pro548_Val552del | |
| ENST00000685269.1:n.1730_1744del | ||
| ENST00000686011.1:c.1640_1654del | ENSP00000509704.1:p.Pro547_Val551del | |
| ENST00000687109.1:c.1655_1669del | ENSP00000509371.1:p.Pro552_Val556del | |
| ENST00000687208.1:n.2067_2081del | ||
| ENST00000687246.1:c.1640_1654del | ENSP00000509114.1:p.Pro547_Val551del | |
| ENST00000687265.1:n.1810_1824del | ||
| ENST00000687295.1:c.1640_1654del | ENSP00000509450.1:p.Pro547_Val551del | |
| ENST00000689832.1:c.1655_1669del | ENSP00000509084.1:p.Pro552_Val556del | |
| ENST00000689994.1:c.1142_1156del | ENSP00000509156.1:p.Pro381_Val385del | |
| ENST00000690543.1:c.1643_1657del | ENSP00000508831.1:p.Pro548_Val552del | |
| ENST00000690917.1:n.1870_1884del | ||
| ENST00000691361.1:n.562_576del | ||
| ENST00000692783.1:c.1652_1666del | ENSP00000508733.1:p.Pro551_Val555del | |
| ENST00000692991.1:n.1749_1763del | ||
| ENST00000288135.6:c.1652_1666del MANE Select | ENSP00000288135.6:p.Pro551_Val555del | |
| ENST00000288135.5:c.1652_1666del | ENSP00000288135.5:p.Pro551_Val555del | |
| ENST00000412167.6:c.1640_1654del | ENSP00000390987.2:p.Pro547_Val551del | |
| NM_000222.2:c.1652_1666del , LRG_307t1:c.1652_1666del | NP_000213.1:p.Pro551_Val555del | |
| NM_001093772.1:c.1640_1654del | NP_001087241.1:p.Pro547_Val551del | |
| XM_005265740.1:c.1655_1669del | XP_005265797.1:p.Pro552_Val556del | |
| XM_005265741.1:c.1655_1669del | XP_005265798.1:p.Pro552_Val556del | |
| XM_005265742.1:c.1643_1657del | XP_005265799.1:p.Pro548_Val552del | |
| XM_005265742.3:c.1643_1657del | XP_005265799.1:p.Pro548_Val552del | |
| XM_017008178.1:c.1652_1666del | XP_016863667.1:p.Pro551_Val555del | |
| XM_017008179.1:c.1643_1657del | XP_016863668.1:p.Pro548_Val552del | |
| XM_017008180.1:c.1640_1654del | XP_016863669.1:p.Pro547_Val551del | |
| NM_000222.3:c.1652_1666del MANE Select | NP_000213.1:p.Pro551_Val555del | |
| NM_001093772.2:c.1640_1654del | NP_001087241.1:p.Pro547_Val551del | |
| NM_001385284.1:c.1655_1669del | NP_001372213.1:p.Pro552_Val556del | |
| NM_001385285.1:c.1652_1666del | NP_001372214.1:p.Pro551_Val555del | |
| NM_001385286.1:c.1640_1654del | NP_001372215.1:p.Pro547_Val551del | |
| NM_001385288.1:c.1643_1657del | NP_001372217.1:p.Pro548_Val552del | |
| NM_001385290.1:c.1655_1669del | NP_001372219.1:p.Pro552_Val556del | |
| NM_001385292.1:c.1643_1657del | NP_001372221.1:p.Pro548_Val552del |