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:
370544
ClinVar RCV Id:
RCV000409710
dbSNP Id:
rs1057516575
MyVariant Identifiers:
chr1:g.40539833dupA (hg19)
chr1:g.40539832_40539833insA (hg19)
chr1:g.40074161dupA (hg38)
chr1:g.40074160_40074161insA (hg38)
PubMed:
PMID:10781062
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40074161dup , CM000663.2:g.40074161dup | GRCh38 |
| NC_000001.10:g.40539833dup , CM000663.1:g.40539833dup | GRCh37 |
| NC_000001.9:g.40312420dup | NCBI36 |
| NG_009192.1:g.28310dup , LRG_690:g.28310dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433473.8:c.818dup | ENSP00000394863.4:p.Met273IlefsTer21 | |
| ENST00000439754.6:c.749dup | ENSP00000403207.2:p.Met250IlefsTer21 | |
| ENST00000449045.7:c.512dup | ENSP00000392293.2:p.Met171IlefsTer21 | |
| ENST00000527311.7:c.590dup | ENSP00000436695.3:p.Met197IlefsTer? | |
| ENST00000530076.6:c.164dup | ENSP00000434007.1:p.Met55IlefsTer21 | |
| ENST00000530704.6:c.*444dup | ENSP00000431655.1:n.*444dup | |
| ENST00000641083.1:c.911dup | ||
| ENST00000641236.1:n.1058dup | ||
| ENST00000641319.1:c.*31dup | ENSP00000493128.1:n.*31dup | |
| ENST00000641381.1:c.243dup | ||
| ENST00000641471.1:c.908dup | ENSP00000493146.1:p.Met303IlefsTer21 | |
| ENST00000641691.1:c.*673dup | ENSP00000492910.1:n.*673dup | |
| ENST00000641924.1:c.*250dup | ENSP00000493063.1:n.*250dup | |
| ENST00000642050.2:c.821dup MANE Select | ENSP00000493153.1:p.Met274IlefsTer21 | |
| ENST00000372775.2:n.218dup | ||
| ENST00000433473.7:c.821dup | ENSP00000394863.3:p.Met274IlefsTer21 | |
| ENST00000439754.5:c.434dup | ENSP00000403207.1:p.Met145IlefsTer21 | |
| ENST00000449045.6:c.512dup | ENSP00000392293.2:p.Met171IlefsTer21 | |
| ENST00000527311.6:c.596dup | ENSP00000436695.2:p.Met199IlefsTer? | |
| ENST00000529905.5:c.821dup | ENSP00000432053.1:p.Met274IlefsTer21 | |
| ENST00000530076.5:c.164dup | ENSP00000434007.1:p.Met55IlefsTer21 | |
| ENST00000530704.5:c.*444dup | ENSP00000431655.1:n.*444dup | |
| NM_000310.3:c.821dup , LRG_690t1:c.821dup | NP_000301.1:p.Met274IlefsTer21 | |
| NM_001142604.1:c.512dup | NP_001136076.1:p.Met171IlefsTer21 | |
| XM_005271008.1:c.749dup | XP_005271065.1:p.Met250IlefsTer21 | |
| NM_001363695.1:c.749dup | NP_001350624.1:p.Met250IlefsTer21 | |
| NM_000310.4:c.821dup MANE Select | NP_000301.1:p.Met274IlefsTer21 | |
| NM_001142604.2:c.512dup | NP_001136076.1:p.Met171IlefsTer21 | |
| NM_001363695.2:c.749dup | NP_001350624.1:p.Met250IlefsTer21 |