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_000003.12:g.37048887_37048902delinsGAATTTCTTTGGACCA , CM000665.2:g.37048887_37048902delinsGAATTTCTTTGGACCA | GRCh38 |
| NC_000003.11:g.37090378_37090393delinsGAATTTCTTTGGACCA , CM000665.1:g.37090378_37090393delinsGAATTTCTTTGGACCA | GRCh37 |
| NC_000003.10:g.37065382_37065397delinsGAATTTCTTTGGACCA | NCBI36 |
| NG_007109.2:g.60538_60553delinsGAATTTCTTTGGACCA , LRG_216:g.60538_60553delinsGAATTTCTTTGGACCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1668-1599_1668-1584delinsGAATTTCTTTGGACCA | ENSP00000416476.2:n.1668-1599_1668-1584de... | |
| ENST00000429117.6:c.1696-17_1696-2delinsGAATTTCTTTGGACCA | ENSP00000407019.2:n.1696-17_1696-2delinsG... | |
| ENST00000450420.6:c.1559-1599_1559-1584delinsGAATTTCTTTGGACCA | ENSP00000393006.2:n.1559-1599_1559-1584de... | |
| ENST00000456676.7:c.1896+1204_1896+1219delinsGAATTTCTTTGGACCA | ENSP00000416687.3:n.1896+1204_1896+1219de... | |
| ENST00000492474.6:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | ENSP00000518393.1:n.1267-17_1267-2delinsG... | |
| ENST00000616768.6:c.1897-17_1897-2delinsGAATTTCTTTGGACCA | ENSP00000480669.3:n.1897-17_1897-2delinsG... | |
| ENST00000673673.2:c.1825-17_1825-2delinsGAATTTCTTTGGACCA | ENSP00000500979.2:n.1825-17_1825-2delinsG... | |
| ENST00000231790.8:c.1990-17_1990-2delinsGAATTTCTTTGGACCA MANE Select | ENSP00000231790.3:n.1990-17_1990-2delinsG... | |
| ENST00000413212.2:c.*908-17_*908-2delinsGAATTTCTTTGGACCA | ENSP00000400844.2:n.*908-17_*908-2delinsG... | |
| ENST00000432299.6:c.*1822-17_*1822-2delinsGAATTTCTTTGGACCA | ENSP00000416783.1:n.*1822-17_*1822-2delin... | |
| ENST00000447829.6:c.*1101-17_*1101-2delinsGAATTTCTTTGGACCA | ENSP00000399329.2:n.*1101-17_*1101-2delin... | |
| ENST00000539477.6:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | ENSP00000443665.1:n.1267-17_1267-2delinsG... | |
| ENST00000616768.5:c.934-17_934-2delinsGAATTTCTTTGGACCA | ENSP00000480669.2:n.934-17_934-2delinsGAA... | |
| ENST00000673673.1:c.1778-17_1778-2delinsGAATTTCTTTGGACCA | ||
| ENST00000673741.1:n.1024-17_1024-2delinsGAATTTCTTTGGACCA | ||
| ENST00000673889.1:n.1372-17_1372-2delinsGAATTTCTTTGGACCA | ||
| ENST00000673897.1:c.*1782-17_*1782-2delinsGAATTTCTTTGGACCA | ENSP00000501109.1:n.*1782-17_*1782-2delin... | |
| ENST00000673899.1:c.1258-17_1258-2delinsGAATTTCTTTGGACCA | ENSP00000501030.1:n.1258-17_1258-2delinsG... | |
| ENST00000673947.1:c.*2130-17_*2130-2delinsGAATTTCTTTGGACCA | ENSP00000501304.1:n.*2130-17_*2130-2delin... | |
| ENST00000673972.1:c.*1868-17_*1868-2delinsGAATTTCTTTGGACCA | ENSP00000501281.1:n.*1868-17_*1868-2delin... | |
| ENST00000674019.1:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | ENSP00000501081.1:n.1267-17_1267-2delinsG... | |
| ENST00000674111.1:c.*219-17_*219-2delinsGAATTTCTTTGGACCA | ENSP00000501162.1:n.*219-17_*219-2delinsG... | |
| ENST00000674125.1:n.701-17_701-2delinsGAATTTCTTTGGACCA | ||
| ENST00000231790.6:c.1990-17_1990-2delinsGAATTTCTTTGGACCA | ENSP00000231790.2:n.1990-17_1990-2delinsG... | |
| ENST00000413740.1:c.291-1599_291-1584delinsGAATTTCTTTGGACCA | ENSP00000416476.1:n.291-1599_291-1584deli... | |
| ENST00000435176.5:c.1696-17_1696-2delinsGAATTTCTTTGGACCA | ENSP00000402564.1:n.1696-17_1696-2delinsG... | |
| ENST00000450420.5:c.182-1599_182-1584delinsGAATTTCTTTGGACCA | ENSP00000393006.1:n.182-1599_182-1584deli... | |
| ENST00000455445.6:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | ENSP00000398272.2:n.1267-17_1267-2delinsG... | |
| ENST00000456676.6:c.1871+1204_1871+1219delinsGAATTTCTTTGGACCA | ||
| ENST00000458205.6:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | ENSP00000402667.2:n.1267-17_1267-2delinsG... | |
| ENST00000536378.5:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | ENSP00000444286.2:n.1267-17_1267-2delinsG... | |
| ENST00000539477.5:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | ENSP00000443665.1:n.1267-17_1267-2delinsG... | |
| NM_000249.3:c.1990-17_1990-2delinsGAATTTCTTTGGACCA , LRG_216t1:c.1990-17_1990-2delinsGAATTTCTTTGGACCA | NP_000240.1:n.1990-17_1990-2delinsGAATTTC... | |
| NM_001167617.1:c.1696-17_1696-2delinsGAATTTCTTTGGACCA | NP_001161089.1:n.1696-17_1696-2delinsGAAT... | |
| NM_001167618.1:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001161090.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001167619.1:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001161091.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001258271.1:c.1896+1204_1896+1219delinsGAATTTCTTTGGACCA | NP_001245200.1:n.1896+1204_1896+1219delin... | |
| NM_001258273.1:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001245202.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001258274.1:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001245203.1:n.1267-17_1267-2delinsGAAT... | |
| XM_005265161.1:c.1783-17_1783-2delinsGAATTTCTTTGGACCA | XP_005265218.1:n.1783-17_1783-2delinsGAAT... | |
| XM_005265163.1:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | XP_005265220.1:n.1267-17_1267-2delinsGAAT... | |
| XM_005265164.1:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | XP_005265221.1:n.1267-17_1267-2delinsGAAT... | |
| XM_005265166.1:c.967-17_967-2delinsGAATTTCTTTGGACCA | XP_005265223.1:n.967-17_967-2delinsGAATTT... | |
| XM_011533727.1:c.916-17_916-2delinsGAATTTCTTTGGACCA | XP_011532029.1:n.916-17_916-2delinsGAATTT... | |
| NM_001167617.2:c.1696-17_1696-2delinsGAATTTCTTTGGACCA | NP_001161089.1:n.1696-17_1696-2delinsGAAT... | |
| NM_001167618.2:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001161090.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001167619.2:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001161091.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001258274.2:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001245203.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001354615.1:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001341544.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001354616.1:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001341545.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001354617.1:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001341546.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001354618.1:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001341547.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001354619.1:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001341548.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001354620.1:c.1696-17_1696-2delinsGAATTTCTTTGGACCA | NP_001341549.1:n.1696-17_1696-2delinsGAAT... | |
| NM_001354621.1:c.967-17_967-2delinsGAATTTCTTTGGACCA | NP_001341550.1:n.967-17_967-2delinsGAATTT... | |
| NM_001354622.1:c.967-17_967-2delinsGAATTTCTTTGGACCA | NP_001341551.1:n.967-17_967-2delinsGAATTT... | |
| NM_001354623.1:c.967-17_967-2delinsGAATTTCTTTGGACCA | NP_001341552.1:n.967-17_967-2delinsGAATTT... | |
| NM_001354624.1:c.916-17_916-2delinsGAATTTCTTTGGACCA | NP_001341553.1:n.916-17_916-2delinsGAATTT... | |
| NM_001354625.1:c.916-17_916-2delinsGAATTTCTTTGGACCA | NP_001341554.1:n.916-17_916-2delinsGAATTT... | |
| NM_001354626.1:c.916-17_916-2delinsGAATTTCTTTGGACCA | NP_001341555.1:n.916-17_916-2delinsGAATTT... | |
| NM_001354627.1:c.916-17_916-2delinsGAATTTCTTTGGACCA | NP_001341556.1:n.916-17_916-2delinsGAATTT... | |
| NM_001354628.1:c.1897-17_1897-2delinsGAATTTCTTTGGACCA | NP_001341557.1:n.1897-17_1897-2delinsGAAT... | |
| NM_001354629.1:c.1891-17_1891-2delinsGAATTTCTTTGGACCA | NP_001341558.1:n.1891-17_1891-2delinsGAAT... | |
| NM_001354630.1:c.1825-17_1825-2delinsGAATTTCTTTGGACCA | NP_001341559.1:n.1825-17_1825-2delinsGAAT... | |
| XM_005265161.2:c.1783-17_1783-2delinsGAATTTCTTTGGACCA | XP_005265218.1:n.1783-17_1783-2delinsGAAT... | |
| XM_017006450.2:c.967-17_967-2delinsGAATTTCTTTGGACCA | XP_016861939.1:n.967-17_967-2delinsGAATTT... | |
| NM_000249.4:c.1990-17_1990-2delinsGAATTTCTTTGGACCA MANE Select | NP_000240.1:n.1990-17_1990-2delinsGAATTTC... | |
| NM_001167617.3:c.1696-17_1696-2delinsGAATTTCTTTGGACCA | NP_001161089.1:n.1696-17_1696-2delinsGAAT... | |
| NM_001167618.3:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001161090.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001167619.3:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001161091.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001258271.2:c.1896+1204_1896+1219delinsGAATTTCTTTGGACCA | NP_001245200.1:n.1896+1204_1896+1219delin... | |
| NM_001258273.2:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001245202.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001258274.3:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001245203.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001354615.2:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001341544.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001354616.2:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001341545.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001354617.2:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001341546.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001354618.2:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001341547.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001354619.2:c.1267-17_1267-2delinsGAATTTCTTTGGACCA | NP_001341548.1:n.1267-17_1267-2delinsGAAT... | |
| NM_001354620.2:c.1696-17_1696-2delinsGAATTTCTTTGGACCA | NP_001341549.1:n.1696-17_1696-2delinsGAAT... | |
| NM_001354621.2:c.967-17_967-2delinsGAATTTCTTTGGACCA | NP_001341550.1:n.967-17_967-2delinsGAATTT... | |
| NM_001354622.2:c.967-17_967-2delinsGAATTTCTTTGGACCA | NP_001341551.1:n.967-17_967-2delinsGAATTT... | |
| NM_001354623.2:c.967-17_967-2delinsGAATTTCTTTGGACCA | NP_001341552.1:n.967-17_967-2delinsGAATTT... | |
| NM_001354624.2:c.916-17_916-2delinsGAATTTCTTTGGACCA | NP_001341553.1:n.916-17_916-2delinsGAATTT... | |
| NM_001354625.2:c.916-17_916-2delinsGAATTTCTTTGGACCA | NP_001341554.1:n.916-17_916-2delinsGAATTT... | |
| NM_001354626.2:c.916-17_916-2delinsGAATTTCTTTGGACCA | NP_001341555.1:n.916-17_916-2delinsGAATTT... | |
| NM_001354627.2:c.916-17_916-2delinsGAATTTCTTTGGACCA | NP_001341556.1:n.916-17_916-2delinsGAATTT... | |
| NM_001354628.2:c.1897-17_1897-2delinsGAATTTCTTTGGACCA | NP_001341557.1:n.1897-17_1897-2delinsGAAT... | |
| NM_001354629.2:c.1891-17_1891-2delinsGAATTTCTTTGGACCA | NP_001341558.1:n.1891-17_1891-2delinsGAAT... | |
| NM_001354630.2:c.1825-17_1825-2delinsGAATTTCTTTGGACCA | NP_001341559.1:n.1825-17_1825-2delinsGAAT... |