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:
212264
ClinVar RCV Id:
RCV001731516
dbSNP Id:
rs797045990
gnomAD v4:
17-40632281-TCTCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40632284_40632287del , CM000679.2:g.40632284_40632287del | GRCh38 |
| NC_000017.10:g.38788536_38788539del , CM000679.1:g.38788536_38788539del | GRCh37 |
| NC_000017.9:g.36042062_36042065del | NCBI36 |
| NG_032163.1:g.20567_20570del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264640.9:c.624_627del | ENSP00000466608.2:p.Ser208ArgfsTer26 | |
| ENST00000348513.12:c.624_627del MANE Select | ENSP00000323967.6:p.Ser208ArgfsTer26 | |
| ENST00000377808.9:c.519_522del | ENSP00000367039.4:p.Ser173ArgfsTer26 | |
| ENST00000400122.8:c.414_417del | ENSP00000411607.2:p.Ser138ArgfsTer26 | |
| ENST00000447024.6:c.624_627del | ENSP00000392958.2:p.Ser208ArgfsTer26 | |
| ENST00000469334.6:n.721_724del | ||
| ENST00000478349.7:c.576_579del | ENSP00000463216.2:p.Ser192ArgfsTer26 | |
| ENST00000578044.6:c.414_417del | ENSP00000464511.1:p.Ser138ArgfsTer26 | |
| ENST00000578112.6:c.*421_*424del | ENSP00000464501.1:n.*421_*424del | |
| ENST00000580419.6:c.519_522del | ENSP00000462475.2:p.Ser173ArgfsTer26 | |
| ENST00000580654.6:c.570_573del | ENSP00000464061.2:p.Ser190ArgfsTer26 | |
| ENST00000642459.1:c.414_417del | ENSP00000496546.1:p.Ser138ArgfsTer26 | |
| ENST00000642576.1:n.599_602del | ||
| ENST00000643030.1:n.580_583del | ||
| ENST00000643255.1:c.*2688_*2691del | ENSP00000493957.1:n.*2688_*2691del | |
| ENST00000643318.1:c.414_417del | ENSP00000494771.1:p.Ser138ArgfsTer26 | |
| ENST00000643378.1:n.678_681del | ||
| ENST00000643683.1:c.624_627del | ENSP00000496094.1:p.Ser208ArgfsTer26 | |
| ENST00000643893.1:n.917_920del | ||
| ENST00000644443.1:n.1344_1347del | ||
| ENST00000644523.1:n.670_673del | ||
| ENST00000644527.1:c.414_417del | ENSP00000493974.1:p.Ser138ArgfsTer26 | |
| ENST00000644701.1:c.624_627del | ENSP00000496097.1:p.Ser208ArgfsTer26 | |
| ENST00000644909.1:c.332-592_332-589del | ENSP00000493649.1:n.332-592_332-589del | |
| ENST00000645104.1:c.519_522del | ENSP00000496311.1:p.Ser173ArgfsTer26 | |
| ENST00000645152.1:n.620_623del | ||
| ENST00000645227.1:c.*233_*236del | ENSP00000495021.1:n.*233_*236del | |
| ENST00000645478.1:c.522_525del | ||
| ENST00000645663.1:n.625_628del | ||
| ENST00000646242.1:n.4315_4318del | ||
| ENST00000646283.1:c.414_417del | ENSP00000494537.1:p.Ser138ArgfsTer26 | |
| ENST00000646401.1:n.743_746del | ||
| ENST00000646448.1:n.730_733del | ||
| ENST00000646482.1:c.624_627del | ENSP00000496661.1:p.Ser208ArgfsTer26 | |
| ENST00000646856.1:c.*421_*424del | ENSP00000494505.1:n.*421_*424del | |
| ENST00000647294.1:c.*554_*557del | ENSP00000494815.1:n.*554_*557del | |
| ENST00000647508.1:c.519_522del | ENSP00000496445.1:p.Ser173ArgfsTer26 | |
| ENST00000647515.1:c.414_417del | ENSP00000495857.1:p.Ser138ArgfsTer26 | |
| ENST00000264640.8:c.64_67del | ||
| ENST00000348513.10:c.624_627del | ENSP00000323967.6:p.Ser208ArgfsTer26 | |
| ENST00000377808.8:c.519_522del | ENSP00000367039.4:p.Ser173ArgfsTer26 | |
| ENST00000400122.7:c.414_417del | ENSP00000411607.2:p.Ser138ArgfsTer26 | |
| ENST00000431889.6:c.570_573del | ENSP00000445370.1:p.Ser190ArgfsTer26 | |
| ENST00000447024.5:c.6_9del | ENSP00000392958.1:p.Ser2ArgfsTer26 | |
| ENST00000469334.5:n.710_713del | ||
| ENST00000476049.1:c.*972_*975del | ENSP00000463483.1:n.*972_*975del | |
| ENST00000478349.6:c.576_579del | ENSP00000463216.1:p.Ser192ArgfsTer26 | |
| ENST00000578044.5:c.414_417del | ENSP00000464511.1:p.Ser138ArgfsTer26 | |
| ENST00000578112.5:c.*421_*424del | ENSP00000464501.1:n.*421_*424del | |
| ENST00000580419.5:c.519_522del | ENSP00000462475.1:p.Ser173ArgfsTer26 | |
| NM_003079.4:c.624_627del | NP_003070.3:p.Ser208ArgfsTer26 | |
| NM_003079.5:c.624_627del MANE Select | NP_003070.3:p.Ser208ArgfsTer26 |