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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72095020_72095030delinsAATAAGCTGGC , CM000673.2:g.72095020_72095030delinsAATAAGCTGGC | GRCh38 |
| NC_000011.9:g.71806066_71806076delinsAATAAGCTGGC , CM000673.1:g.71806066_71806076delinsAATAAGCTGGC | GRCh37 |
| NC_000011.8:g.71483714_71483724delinsAATAAGCTGGC | NCBI36 |
| NG_021423.1:g.19685_19695delinsAATAAGCTGGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000289488.8:c.361_371delinsAATAAGCTGGC (LRRC51) MANE Select | ENSP00000289488.2:p.Asn121= | |
| ENST00000289488.7:c.361_371delinsAATAAGCTGGC (LRRC51) | ENSP00000289488.2:p.Asn121= | |
| ENST00000535883.6:c.*424_*434delinsAATAAGCTGGC (LRRC51) | ENSP00000437561.1:n.*424_*434delinsAATAAG... | |
| ENST00000536917.2:c.361_371delinsAATAAGCTGGC (LRRC51) | ENSP00000443421.1:p.Asn121= | |
| ENST00000538413.6:c.361_371delinsAATAAGCTGGC (LRRC51) | ENSP00000438762.2:p.Asn121= | |
| ENST00000539271.6:c.-54_-44delinsAATAAGCTGGC (LRRC51) | ENSP00000442267.2:n.-54_-44delinsAATAAGCT... | |
| ENST00000539587.6:c.-54_-44delinsAATAAGCTGGC (LRRC51) | ENSP00000437649.2:n.-54_-44delinsAATAAGCT... | |
| ENST00000642478.1:c.*424_*434delinsAATAAGCTGGC (LRRC51) | ENSP00000495182.1:n.*424_*434delinsAATAAG... | |
| ENST00000642510.1:c.-54_-44delinsAATAAGCTGGC (LRRC51) | ENSP00000496544.1:n.-54_-44delinsAATAAGCT... | |
| ENST00000642648.1:c.361_371delinsAATAAGCTGGC (LRRC51) | ENSP00000494362.1:p.Asn121= | |
| ENST00000643715.1:c.361_371delinsAATAAGCTGGC (LRTOMT) | ENSP00000496019.1:p.Asn121= | |
| ENST00000644745.1:n.496_506delinsAATAAGCTGGC (LRRC51) | ||
| ENST00000645358.1:c.*424_*434delinsAATAAGCTGGC (LRRC51) | ENSP00000495121.1:n.*424_*434delinsAATAAG... | |
| ENST00000646163.1:c.-54_-44delinsAATAAGCTGGC (LRTOMT) | ENSP00000494749.1:n.-54_-44delinsAATAAGCT... | |
| ENST00000647530.1:c.361_371delinsAATAAGCTGGC (LRRC51) | ENSP00000494072.1:p.Asn121= | |
| ENST00000289488.6:c.361_371delinsAATAAGCTGGC (LRRC51) | ENSP00000289488.2:p.Asn121= | |
| ENST00000307198.11:c.-43_-33delinsAATAAGCTGGC (LRRC51) | ENSP00000305742.7:n.-43_-33delinsAATAAGCT... | |
| ENST00000324866.11:c.361_371delinsAATAAGCTGGC (LRRC51) | ENSP00000440693.1:p.Asn121= | |
| ENST00000412777.6:n.388_398delinsAATAAGCTGGC (LRRC51) | ||
| ENST00000419228.2:c.-43_-33delinsAATAAGCTGGC (LRRC51) | ENSP00000392233.2:n.-43_-33delinsAATAAGCT... | |
| ENST00000423494.6:c.307_317delinsAATAAGCTGGC (LRRC51) | ENSP00000441249.1:p.Asn103= | |
| ENST00000427369.6:c.361_371delinsAATAAGCTGGC (LRRC51) | ENSP00000409403.2:p.Asn121= | |
| ENST00000435085.5:c.-43_-33delinsAATAAGCTGGC (LRRC51) | ENSP00000409789.1:n.-43_-33delinsAATAAGCT... | |
| ENST00000439209.5:c.361_371delinsAATAAGCTGGC (LRRC51) | ENSP00000395139.1:p.Asn121= | |
| ENST00000440313.2:c.-43_-33delinsAATAAGCTGGC (LRRC51) | ENSP00000390485.2:n.-43_-33delinsAATAAGCT... | |
| ENST00000447974.5:c.361_371delinsAATAAGCTGGC (LRRC51) | ENSP00000414271.2:p.Asn121= | |
| ENST00000535107.5:c.267-253_267-243delinsGCCAGCTTATT (LAMTOR1) | ENSP00000445170.1:n.267-253_267-243delins... | |
| ENST00000535883.5:c.*424_*434delinsAATAAGCTGGC (LRRC51) | ENSP00000437561.1:n.*424_*434delinsAATAAG... | |
| ENST00000536917.1:c.361_371delinsAATAAGCTGGC (LRRC51) | ENSP00000443421.1:p.Asn121= | |
| ENST00000538478.5:c.361_371delinsAATAAGCTGGC (LRRC51) | ENSP00000444583.1:p.Asn121= | |
| ENST00000539271.5:c.-43_-33delinsAATAAGCTGGC (LRRC51) | ENSP00000442267.1:n.-43_-33delinsAATAAGCT... | |
| ENST00000539587.5:c.-43_-33delinsAATAAGCTGGC (LRRC51) | ENSP00000437649.1:n.-43_-33delinsAATAAGCT... | |
| ENST00000541614.5:c.361_371delinsAATAAGCTGGC (LRRC51) | ENSP00000438522.1:p.Asn121= | |
| ENST00000544409.5:c.361_371delinsAATAAGCTGGC (LRRC51) | ENSP00000440969.1:p.Asn121= | |
| ENST00000545249.5:c.393+3259_393+3269delinsGCCAGCTTATT (LAMTOR1) | ENSP00000440738.1:n.393+3259_393+3269deli... | |
| ENST00000615940.4:c.307_317delinsAATAAGCTGGC (LRRC51) | ENSP00000482923.1:p.Asn103= | |
| NM_001145307.4:c.361_371delinsAATAAGCTGGC (LRTOMT) | NP_001138779.1:p.Asn121= | |
| NM_001145308.4:c.-43_-33delinsAATAAGCTGGC (LRTOMT) | NP_001138780.1:n.-43_-33delinsAATAAGCTGGC... | |
| NM_001145309.3:c.-43_-33delinsAATAAGCTGGC (LRTOMT) | NP_001138781.1:n.-43_-33delinsAATAAGCTGGC... | |
| NM_001145310.3:c.-43_-33delinsAATAAGCTGGC (LRTOMT) | NP_001138782.1:n.-43_-33delinsAATAAGCTGGC... | |
| NM_001205138.3:c.307_317delinsAATAAGCTGGC (LRTOMT) | NP_001192067.1:p.Asn103= | |
| NM_001271471.2:c.361_371delinsAATAAGCTGGC (LRTOMT) | NP_001258400.1:p.Asn121= | |
| NM_145309.5:c.361_371delinsAATAAGCTGGC (LRTOMT) | NP_660352.1:p.Asn121= | |
| NR_026886.3:n.1235_1245delinsAATAAGCTGGC (LRTOMT) | ||
| XM_006718472.2:c.361_371delinsAATAAGCTGGC (LRTOMT) | XP_006718535.1:p.Asn121= | |
| XM_006718473.2:c.361_371delinsAATAAGCTGGC (LRTOMT) | XP_006718536.1:p.Asn121= | |
| XM_006718474.2:c.361_371delinsAATAAGCTGGC (LRTOMT) | XP_006718537.1:p.Asn121= | |
| XM_011544847.1:c.361_371delinsAATAAGCTGGC (LRTOMT) | XP_011543149.1:p.Asn121= | |
| XM_011544848.1:c.361_371delinsAATAAGCTGGC (LRTOMT) | XP_011543150.1:p.Asn121= | |
| NM_001318803.1:c.361_371delinsAATAAGCTGGC (LRTOMT) | NP_001305732.1:p.Asn121= | |
| NR_134858.1:n.834_844delinsAATAAGCTGGC (LRTOMT) | ||
| XM_006718473.4:c.361_371delinsAATAAGCTGGC (LRTOMT) | XP_006718536.1:p.Asn121= | |
| XM_006718474.4:c.361_371delinsAATAAGCTGGC (LRTOMT) | XP_006718537.1:p.Asn121= | |
| XM_011544847.3:c.361_371delinsAATAAGCTGGC (LRTOMT) | XP_011543149.1:p.Asn121= | |
| XM_011544848.3:c.361_371delinsAATAAGCTGGC (LRTOMT) | XP_011543150.1:p.Asn121= | |
| NM_001145307.5:c.361_371delinsAATAAGCTGGC (LRTOMT) | NP_001138779.1:p.Asn121= | |
| NM_001145308.5:c.-43_-33delinsAATAAGCTGGC (LRTOMT) | NP_001138780.1:n.-43_-33delinsAATAAGCTGGC... | |
| NM_001145309.4:c.-43_-33delinsAATAAGCTGGC (LRTOMT) | NP_001138781.1:n.-43_-33delinsAATAAGCTGGC... | |
| NM_001145310.4:c.-43_-33delinsAATAAGCTGGC (LRTOMT) | NP_001138782.1:n.-43_-33delinsAATAAGCTGGC... | |
| NM_001205138.4:c.307_317delinsAATAAGCTGGC (LRTOMT) | NP_001192067.1:p.Asn103= | |
| NM_001271471.3:c.361_371delinsAATAAGCTGGC (LRTOMT) | NP_001258400.1:p.Asn121= | |
| NM_001318803.2:c.361_371delinsAATAAGCTGGC (LRTOMT) | NP_001305732.1:p.Asn121= | |
| NM_145309.6:c.361_371delinsAATAAGCTGGC (LRTOMT) MANE Select | NP_660352.1:p.Asn121= | |
| NR_026886.4:n.716_726delinsAATAAGCTGGC (LRTOMT) |