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:
222957
ClinVar RCV Id:
RCV000208566
dbSNP Id:
rs869025568
PubMed:
PMID:9438854
CIViC:
CA356974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54727437_54727442del , CM000666.2:g.54727437_54727442del | GRCh38 |
| NC_000004.11:g.55593603_55593608del , CM000666.1:g.55593603_55593608del | GRCh37 |
| NC_000004.10:g.55288360_55288365del | NCBI36 |
| NG_007456.1:g.74443_74448del , LRG_307:g.74443_74448del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412167.7:c.1660_1665del | ENSP00000390987.3:p.Trp554_Lys555del | |
| ENST00000685269.1:n.1747_1752del | ||
| ENST00000686011.1:c.1657_1662del | ENSP00000509704.1:p.Trp553_Lys554del | |
| ENST00000687109.1:c.1672_1677del | ENSP00000509371.1:p.Trp558_Lys559del | |
| ENST00000687208.1:n.2084_2089del | ||
| ENST00000687246.1:c.1657_1662del | ENSP00000509114.1:p.Trp553_Lys554del | |
| ENST00000687265.1:n.1827_1832del | ||
| ENST00000687295.1:c.1657_1662del | ENSP00000509450.1:p.Trp553_Lys554del | |
| ENST00000689832.1:c.1672_1677del | ENSP00000509084.1:p.Trp558_Lys559del | |
| ENST00000689994.1:c.1159_1164del | ENSP00000509156.1:p.Trp387_Lys388del | |
| ENST00000690543.1:c.1660_1665del | ENSP00000508831.1:p.Trp554_Lys555del | |
| ENST00000690917.1:n.1887_1892del | ||
| ENST00000691361.1:n.579_584del | ||
| ENST00000692783.1:c.1669_1674del | ENSP00000508733.1:p.Trp557_Lys558del | |
| ENST00000692991.1:n.1766_1771del | ||
| ENST00000288135.6:c.1669_1674del MANE Select | ENSP00000288135.6:p.Trp557_Lys558del | |
| ENST00000288135.5:c.1669_1674del | ENSP00000288135.5:p.Trp557_Lys558del | |
| ENST00000412167.6:c.1657_1662del | ENSP00000390987.2:p.Trp553_Lys554del | |
| NM_000222.2:c.1669_1674del , LRG_307t1:c.1669_1674del | NP_000213.1:p.Trp557_Lys558del | |
| NM_001093772.1:c.1657_1662del | NP_001087241.1:p.Trp553_Lys554del | |
| XM_005265740.1:c.1672_1677del | XP_005265797.1:p.Trp558_Lys559del | |
| XM_005265741.1:c.1672_1677del | XP_005265798.1:p.Trp558_Lys559del | |
| XM_005265742.1:c.1660_1665del | XP_005265799.1:p.Trp554_Lys555del | |
| XM_005265742.3:c.1660_1665del | XP_005265799.1:p.Trp554_Lys555del | |
| XM_017008178.1:c.1669_1674del | XP_016863667.1:p.Trp557_Lys558del | |
| XM_017008179.1:c.1660_1665del | XP_016863668.1:p.Trp554_Lys555del | |
| XM_017008180.1:c.1657_1662del | XP_016863669.1:p.Trp553_Lys554del | |
| NM_000222.3:c.1669_1674del MANE Select | NP_000213.1:p.Trp557_Lys558del | |
| NM_001093772.2:c.1657_1662del | NP_001087241.1:p.Trp553_Lys554del | |
| NM_001385284.1:c.1672_1677del | NP_001372213.1:p.Trp558_Lys559del | |
| NM_001385285.1:c.1669_1674del | NP_001372214.1:p.Trp557_Lys558del | |
| NM_001385286.1:c.1657_1662del | NP_001372215.1:p.Trp553_Lys554del | |
| NM_001385288.1:c.1660_1665del | NP_001372217.1:p.Trp554_Lys555del | |
| NM_001385290.1:c.1672_1677del | NP_001372219.1:p.Trp558_Lys559del | |
| NM_001385292.1:c.1660_1665del | NP_001372221.1:p.Trp554_Lys555del |