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:
2576849
ClinVar RCV Id:
RCV003323154
dbSNP Id:
rs2109769587
COSMIC:
COSM1326
CIViC:
CA645516719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54726014_54726019dup , CM000666.2:g.54726014_54726019dup | GRCh38 |
| NC_000004.11:g.55592180_55592185dup , CM000666.1:g.55592180_55592185dup | GRCh37 |
| NC_000004.10:g.55286937_55286942dup | NCBI36 |
| NG_007456.1:g.73020_73025dup , LRG_307:g.73020_73025dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412167.7:c.1507_1512dup | ENSP00000390987.3:p.Tyr504_Phe505insAlaTy... | |
| ENST00000685269.1:n.1582_1587dup | ||
| ENST00000685816.1:c.442_447dup | ENSP00000508749.1:p.Tyr149_Phe150insAlaTy... | |
| ENST00000686011.1:c.1504_1509dup | ENSP00000509704.1:p.Tyr503_Phe504insAlaTy... | |
| ENST00000687109.1:c.1507_1512dup | ENSP00000509371.1:p.Tyr504_Phe505insAlaTy... | |
| ENST00000687208.1:n.1919_1924dup | ||
| ENST00000687246.1:c.1504_1509dup | ENSP00000509114.1:p.Tyr503_Phe504insAlaTy... | |
| ENST00000687265.1:n.1674_1679dup | ||
| ENST00000687295.1:c.1504_1509dup | ENSP00000509450.1:p.Tyr503_Phe504insAlaTy... | |
| ENST00000689832.1:c.1507_1512dup | ENSP00000509084.1:p.Tyr504_Phe505insAlaTy... | |
| ENST00000689994.1:c.994_999dup | ENSP00000509156.1:p.Tyr333_Phe334insAlaTy... | |
| ENST00000690543.1:c.1507_1512dup | ENSP00000508831.1:p.Tyr504_Phe505insAlaTy... | |
| ENST00000690917.1:n.1722_1727dup | ||
| ENST00000691361.1:n.426_431dup | ||
| ENST00000692783.1:c.1504_1509dup | ENSP00000508733.1:p.Tyr503_Phe504insAlaTy... | |
| ENST00000692991.1:n.1613_1618dup | ||
| ENST00000288135.6:c.1504_1509dup MANE Select | ENSP00000288135.6:p.Tyr503_Phe504insAlaTy... | |
| ENST00000288135.5:c.1504_1509dup | ENSP00000288135.5:p.Tyr503_Phe504insAlaTy... | |
| ENST00000412167.6:c.1504_1509dup | ENSP00000390987.2:p.Tyr503_Phe504insAlaTy... | |
| NM_000222.2:c.1504_1509dup , LRG_307t1:c.1504_1509dup | NP_000213.1:p.Tyr503_Phe504insAlaTyr | |
| NM_001093772.1:c.1504_1509dup | NP_001087241.1:p.Tyr503_Phe504insAlaTyr | |
| XM_005265740.1:c.1507_1512dup | XP_005265797.1:p.Tyr504_Phe505insAlaTyr | |
| XM_005265741.1:c.1507_1512dup | XP_005265798.1:p.Tyr504_Phe505insAlaTyr | |
| XM_005265742.1:c.1507_1512dup | XP_005265799.1:p.Tyr504_Phe505insAlaTyr | |
| XM_005265742.3:c.1507_1512dup | XP_005265799.1:p.Tyr504_Phe505insAlaTyr | |
| XM_017008178.1:c.1504_1509dup | XP_016863667.1:p.Tyr503_Phe504insAlaTyr | |
| XM_017008179.1:c.1507_1512dup | XP_016863668.1:p.Tyr504_Phe505insAlaTyr | |
| XM_017008180.1:c.1504_1509dup | XP_016863669.1:p.Tyr503_Phe504insAlaTyr | |
| NM_000222.3:c.1504_1509dup MANE Select | NP_000213.1:p.Tyr503_Phe504insAlaTyr | |
| NM_001093772.2:c.1504_1509dup | NP_001087241.1:p.Tyr503_Phe504insAlaTyr | |
| NM_001385284.1:c.1507_1512dup | NP_001372213.1:p.Tyr504_Phe505insAlaTyr | |
| NM_001385285.1:c.1504_1509dup | NP_001372214.1:p.Tyr503_Phe504insAlaTyr | |
| NM_001385286.1:c.1504_1509dup | NP_001372215.1:p.Tyr503_Phe504insAlaTyr | |
| NM_001385288.1:c.1507_1512dup | NP_001372217.1:p.Tyr504_Phe505insAlaTyr | |
| NM_001385290.1:c.1507_1512dup | NP_001372219.1:p.Tyr504_Phe505insAlaTyr | |
| NM_001385292.1:c.1507_1512dup | NP_001372221.1:p.Tyr504_Phe505insAlaTyr |