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:
208694
ClinVar RCV Id:
RCV000190711
dbSNP Id:
rs797044889
PubMed:
PMID:26795593
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53250524_53250525del , CM000685.2:g.53250524_53250525del | GRCh38 |
| NC_000023.10:g.53279706_53279707del , CM000685.1:g.53279706_53279707del | GRCh37 |
| NC_000023.9:g.53296431_53296432del | NCBI36 |
| NG_021296.1:g.75817_75818del | |
| NG_021296.2:g.75827_75828del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706952.1:c.2211_2212del | ENSP00000516672.1:p.Cys737Ter | |
| ENST00000638521.1:c.4_5del | ||
| ENST00000640694.1:c.2052_2053del | ENSP00000492403.1:p.Cys684Ter | |
| ENST00000642864.1:c.2052_2053del MANE Select | ENSP00000495726.1:p.Cys684Ter | |
| ENST00000674510.1:c.2052_2053del | ENSP00000502054.1:p.Cys684Ter | |
| ENST00000675719.1:c.2022_2023del | ENSP00000501927.1:p.Cys674Ter | |
| ENST00000375365.2:c.1437_1438del | ENSP00000364514.2:p.Cys479Ter | |
| ENST00000396435.7:c.2052_2053del | ENSP00000379712.3:p.Cys684Ter | |
| NM_001111125.2:c.2052_2053del | NP_001104595.1:p.Cys684Ter | |
| NM_015075.1:c.1437_1438del | NP_055890.1:p.Cys479Ter | |
| XM_006724579.2:c.2148_2149del | XP_006724642.1:p.Cys716Ter | |
| XM_006724580.2:c.1437_1438del | XP_006724643.1:p.Cys479Ter | |
| XM_006724581.2:c.2148_2149del | XP_006724644.1:p.Cys716Ter | |
| XM_006724582.2:c.2148_2149del | XP_006724645.1:p.Cys716Ter | |
| XM_006724583.2:c.2148_2149del | XP_006724646.1:p.Cys716Ter | |
| XM_006724584.2:c.2148_2149del | XP_006724647.1:p.Cys716Ter | |
| XM_011530772.1:c.1374_1375del | XP_011529074.1:p.Cys458Ter | |
| XM_011530773.1:c.1341_1342del | XP_011529075.1:p.Cys447Ter | |
| XM_011530774.1:c.2148_2149del | XP_011529076.1:p.Cys716Ter | |
| XM_011530775.1:c.2148_2149del | XP_011529077.1:p.Cys716Ter | |
| XM_011530776.1:c.2148_2149del | XP_011529078.1:p.Cys716Ter | |
| XM_011530777.1:c.2148_2149del | XP_011529079.1:p.Cys716Ter | |
| XR_938365.1:n.2375_2376del | ||
| XM_006724579.3:c.2148_2149del | XP_006724642.1:p.Cys716Ter | |
| XM_006724580.3:c.1437_1438del | XP_006724643.1:p.Cys479Ter | |
| XM_006724581.4:c.2148_2149del | XP_006724644.1:p.Cys716Ter | |
| XM_006724582.4:c.2148_2149del | XP_006724645.1:p.Cys716Ter | |
| XM_006724583.4:c.2148_2149del | XP_006724646.1:p.Cys716Ter | |
| XM_006724584.3:c.2148_2149del | XP_006724647.1:p.Cys716Ter | |
| XM_011530773.2:c.1341_1342del | XP_011529075.1:p.Cys447Ter | |
| XM_011530774.3:c.2148_2149del | XP_011529076.1:p.Cys716Ter | |
| XM_011530776.2:c.2148_2149del | XP_011529078.1:p.Cys716Ter | |
| XM_011530777.2:c.2148_2149del | XP_011529079.1:p.Cys716Ter | |
| XM_017029359.2:c.2022_2023del | XP_016884848.1:p.Cys674Ter | |
| XM_017029360.1:c.1554_1555del | XP_016884849.1:p.Cys518Ter | |
| XR_938365.2:n.2369_2370del | ||
| NM_001111125.3:c.2052_2053del MANE Select | NP_001104595.1:p.Cys684Ter | |
| NM_015075.2:c.1437_1438del | NP_055890.1:p.Cys479Ter |