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_000023.11:g.38286080_38286158delinsTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCC , CM000685.2:g.38286080_38286158delinsTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCC | GRCh38 |
| NC_000023.10:g.38145333_38145411delinsTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCC , CM000685.1:g.38145333_38145411delinsTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCC | GRCh37 |
| NC_000023.9:g.38030277_38030355delinsTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCC | NCBI36 |
| NG_009553.1:g.46378_46456delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494707.6:c.953+1707_953+1785delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ||
| ENST00000642170.1:n.1826+4801_1826+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ||
| ENST00000642395.2:c.1905+936_1905+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ENSP00000493468.2:n.1905+936_1905+1014del... | |
| ENST00000642739.1:c.1572+4801_1572+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ENSP00000493596.1:n.1572+4801_1572+4879de... | |
| ENST00000644238.1:c.1386+4801_1386+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ENSP00000496728.1:n.1386+4801_1386+4879de... | |
| ENST00000644337.1:c.1719+936_1719+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ENSP00000494557.1:n.1719+936_1719+1014del... | |
| ENST00000645032.1:c.2841_2919delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA MANE Select | ENSP00000495537.1:p.Glu947= | |
| ENST00000645124.1:c.*101+936_*101+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ENSP00000496446.1:n.*101+936_*101+1014del... | |
| ENST00000646020.1:c.*594+936_*594+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ENSP00000494745.1:n.*594+936_*594+1014del... | |
| ENST00000318842.11:c.1905+936_1905+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ENSP00000322219.6:n.1905+936_1905+1014del... | |
| ENST00000339363.7:c.2520+936_2520+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ENSP00000343671.3:n.2520+936_2520+1014del... | |
| ENST00000378505.6:c.2841_2919delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ENSP00000367766.2:p.Glu947= | |
| ENST00000465127.1:c.172-380041_172-379963delinsTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCC | ENSP00000417050.1:n.172-380041_172-379963... | |
| ENST00000474584.5:c.*37+4801_*37+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ENSP00000418926.1:n.*37+4801_*37+4879deli... | |
| ENST00000482855.5:c.1905+936_1905+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ENSP00000419276.1:n.1905+936_1905+1014del... | |
| ENST00000494707.5:c.139+4801_139+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ||
| NM_000328.2:c.1905+936_1905+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | NP_000319.1:n.1905+936_1905+1014delinsGGG... | |
| NM_001034853.1:c.2841_2919delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | NP_001030025.1:p.Glu947= | |
| XM_005272633.1:c.1572+4801_1572+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | XP_005272690.1:n.1572+4801_1572+4879delin... | |
| XM_011543940.1:c.1902+936_1902+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | XP_011542242.1:n.1902+936_1902+1014delins... | |
| XM_005272633.3:c.1572+4801_1572+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | XP_005272690.1:n.1572+4801_1572+4879delin... | |
| XM_011543940.3:c.1902+936_1902+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | XP_011542242.1:n.1902+936_1902+1014delins... | |
| XM_017029712.2:c.1569+4801_1569+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | XP_016885201.1:n.1569+4801_1569+4879delin... | |
| NM_001367245.1:c.1902+936_1902+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | NP_001354174.1:n.1902+936_1902+1014delins... | |
| NM_001367246.1:c.1719+936_1719+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | NP_001354175.1:n.1719+936_1719+1014delins... | |
| NM_001367247.1:c.1572+4801_1572+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | NP_001354176.1:n.1572+4801_1572+4879delin... | |
| NM_001367248.1:c.1602+4801_1602+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | NP_001354177.1:n.1602+4801_1602+4879delin... | |
| NM_001367249.1:c.1569+4801_1569+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | NP_001354178.1:n.1569+4801_1569+4879delin... | |
| NM_001367250.1:c.1569+4801_1569+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | NP_001354179.1:n.1569+4801_1569+4879delin... | |
| NM_001367251.1:c.1386+4801_1386+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | NP_001354180.1:n.1386+4801_1386+4879delin... | |
| NR_159803.1:n.2263+936_2263+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ||
| NR_159804.1:n.1648+4801_1648+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ||
| NR_159805.1:n.1714+4801_1714+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ||
| NR_159806.1:n.1866+936_1866+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ||
| NR_159807.1:n.1622+4801_1622+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ||
| NR_159808.1:n.1826+4801_1826+4879delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | ||
| NM_000328.3:c.1905+936_1905+1014delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA | NP_000319.1:n.1905+936_1905+1014delinsGGG... | |
| NM_001034853.2:c.2841_2919delinsGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAA MANE Select | NP_001030025.1:p.Glu947= |