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:
189046
ClinVar RCV Id:
RCV000169438
dbSNP Id:
rs777042785
ExAC:
15:72638889 CTA / C
gnomAD v2:
15-72638889-CTA-C
gnomAD v3:
15-72346548-CTA-C
gnomAD v4:
15-72346548-CTA-C
PubMed:
PMID:22441121
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346550_72346551del , CM000677.2:g.72346550_72346551del | GRCh38 |
| NC_000015.9:g.72638891_72638892del , CM000677.1:g.72638891_72638892del | GRCh37 |
| NC_000015.8:g.70425945_70425946del | NCBI36 |
| NG_009017.1:g.34630_34631del | |
| NG_009017.2:g.34630_34631del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567027.6:c.1074-225_1074-224del | ENSP00000457521.2:n.1074-225_1074-224del | |
| ENST00000682061.1:c.*969_*970del | ENSP00000508316.1:n.*969_*970del | |
| ENST00000682064.1:n.649_650del | ||
| ENST00000682177.1:c.1350_1351del | ENSP00000507409.1:n.1350_1351del | |
| ENST00000682235.1:n.646_647del | ||
| ENST00000682461.1:c.1413_1414del | ENSP00000507308.1:n.1413_1414del | |
| ENST00000682653.1:n.1627_1628del | ||
| ENST00000682657.1:c.*484-225_*484-224del | ENSP00000507753.1:n.*484-225_*484-224del | |
| ENST00000682721.1:c.*1110_*1111del | ENSP00000507535.1:n.*1110_*1111del | |
| ENST00000682843.1:c.*972-225_*972-224del | ENSP00000508173.1:n.*972-225_*972-224del | |
| ENST00000683003.1:c.*484-225_*484-224del | ENSP00000507576.1:n.*484-225_*484-224del | |
| ENST00000683133.1:c.1491_1492del | ENSP00000508108.1:n.1491_1492del | |
| ENST00000683243.1:c.*484-225_*484-224del | ENSP00000507042.1:n.*484-225_*484-224del | |
| ENST00000683463.1:c.*112_*113del | ENSP00000507986.1:n.*112_*113del | |
| ENST00000683548.1:n.1105-225_1105-224del | ||
| ENST00000683579.1:c.*1205_*1206del | ENSP00000506867.1:n.*1205_*1206del | |
| ENST00000683587.1:n.1178-225_1178-224del | ||
| ENST00000683681.1:c.1307_1308del | ENSP00000508110.1:p.Ile436SerfsTer7 | |
| ENST00000683735.1:c.*1045-225_*1045-224del | ENSP00000508336.1:n.*1045-225_*1045-224de... | |
| ENST00000683853.1:c.*112_*113del | ENSP00000506834.1:n.*112_*113del | |
| ENST00000683860.1:c.1307_1308del | ENSP00000507179.1:p.Ile436SerfsTer7 | |
| ENST00000683884.1:c.1147-225_1147-224del | ENSP00000507004.1:n.1147-225_1147-224del | |
| ENST00000684041.1:c.1307_1308del | ENSP00000508382.1:p.Ile436SerfsTer7 | |
| ENST00000684125.1:c.1074-225_1074-224del | ENSP00000507320.1:n.1074-225_1074-224del | |
| ENST00000684203.1:n.3072_3073del | ||
| ENST00000684231.1:c.*717_*718del | ENSP00000507748.1:n.*717_*718del | |
| ENST00000684263.1:c.*247_*248del | ENSP00000508369.1:n.*247_*248del | |
| ENST00000684305.1:c.1755_1756del | ENSP00000506819.1:n.1755_1756del | |
| ENST00000684415.1:c.*174_*175del | ENSP00000507227.1:n.*174_*175del | |
| ENST00000684520.1:c.1307_1308del | ENSP00000506826.1:p.Ile436SerfsTer7 | |
| ENST00000684602.1:c.*973_*974del | ENSP00000507996.1:n.*973_*974del | |
| ENST00000684667.1:c.1638_1639del | ENSP00000507003.1:n.1638_1639del | |
| ENST00000268097.10:c.1307_1308del MANE Select | ENSP00000268097.6:p.Ile436SerfsTer7 | |
| ENST00000268097.9:c.1307_1308del | ENSP00000268097.5:p.Ile436SerfsTer7 | |
| ENST00000379915.4:c.413-225_413-224del | ENSP00000478716.1:n.413-225_413-224del | |
| ENST00000563762.5:c.826-225_826-224del | ENSP00000456346.1:n.826-225_826-224del | |
| ENST00000566304.5:c.1340_1341del | ENSP00000455114.1:p.Ile447SerfsTer7 | |
| ENST00000566672.5:c.*717_*718del | ENSP00000457037.1:n.*717_*718del | |
| ENST00000567027.5:c.946-225_946-224del | ||
| ENST00000567159.5:c.1307_1308del | ENSP00000456489.1:p.Ile436SerfsTer7 | |
| ENST00000567411.5:c.*828_*829del | ENSP00000455545.1:n.*828_*829del | |
| ENST00000568777.5:n.6551-225_6551-224del | ||
| ENST00000569410.5:c.*112_*113del | ENSP00000457125.1:n.*112_*113del | |
| NM_000520.4:c.1307_1308del | NP_000511.2:p.Ile436SerfsTer7 | |
| NM_000520.5:c.1307_1308del | NP_000511.2:p.Ile436SerfsTer7 | |
| NM_001318825.1:c.1340_1341del | NP_001305754.1:p.Ile447SerfsTer7 | |
| NR_134869.1:n.1575-225_1575-224del | ||
| NM_000520.6:c.1307_1308del MANE Select | NP_000511.2:p.Ile436SerfsTer7 | |
| NM_001318825.2:c.1340_1341del | NP_001305754.1:p.Ile447SerfsTer7 | |
| NR_134869.2:n.1116-225_1116-224del | ||
| NR_134869.3:n.1116-225_1116-224del |