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.37047533_37047535delinsCTT , CM000665.2:g.37047533_37047535delinsCTT | GRCh38 |
| NC_000003.11:g.37089024_37089026delinsCTT , CM000665.1:g.37089024_37089026delinsCTT | GRCh37 |
| NC_000003.10:g.37064028_37064030delinsCTT | NCBI36 |
| NG_007109.2:g.59184_59186delinsCTT , LRG_216:g.59184_59186delinsCTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1668-2953_1668-2951delinsCTT | ENSP00000416476.2:n.1668-2953_1668-2951de... | |
| ENST00000429117.6:c.1452_1454delinsCTT | ENSP00000407019.2:p.Leu484= | |
| ENST00000450420.6:c.1559-2953_1559-2951delinsCTT | ENSP00000393006.2:n.1559-2953_1559-2951de... | |
| ENST00000456676.7:c.1746_1748delinsCTT | ENSP00000416687.3:p.Leu582= | |
| ENST00000492474.6:c.1023_1025delinsCTT | ENSP00000518393.1:p.Leu341= | |
| ENST00000616768.6:c.1746_1748delinsCTT | ENSP00000480669.3:p.Leu582= | |
| ENST00000673673.2:c.1732-984_1732-982delinsCTT | ENSP00000500979.2:n.1732-984_1732-982deli... | |
| ENST00000231790.8:c.1746_1748delinsCTT MANE Select | ENSP00000231790.3:p.Leu582= | |
| ENST00000413212.2:c.*664_*666delinsCTT | ENSP00000400844.2:n.*664_*666delinsCTT | |
| ENST00000432299.6:c.*1578_*1580delinsCTT | ENSP00000416783.1:n.*1578_*1580delinsCTT | |
| ENST00000441265.6:c.959_961delinsCTT | ENSP00000398392.2:p.Ser320= | |
| ENST00000447829.6:c.*857_*859delinsCTT | ENSP00000399329.2:n.*857_*859delinsCTT | |
| ENST00000539477.6:c.1023_1025delinsCTT | ENSP00000443665.1:p.Leu341= | |
| ENST00000616768.5:c.783_785delinsCTT | ENSP00000480669.2:p.Leu261= | |
| ENST00000673673.1:c.1685-984_1685-982delinsCTT | ||
| ENST00000673715.1:c.1746_1748delinsCTT | ENSP00000501301.1:p.Leu582= | |
| ENST00000673741.1:n.780_782delinsCTT | ||
| ENST00000673889.1:n.1128_1130delinsCTT | ||
| ENST00000673897.1:c.*1538_*1540delinsCTT | ENSP00000501109.1:n.*1538_*1540delinsCTT | |
| ENST00000673899.1:c.1014_1016delinsCTT | ENSP00000501030.1:p.Leu338= | |
| ENST00000673947.1:c.*1886_*1888delinsCTT | ENSP00000501304.1:n.*1886_*1888delinsCTT | |
| ENST00000673972.1:c.*1624_*1626delinsCTT | ENSP00000501281.1:n.*1624_*1626delinsCTT | |
| ENST00000673990.1:n.1637_1639delinsCTT | ||
| ENST00000674019.1:c.1023_1025delinsCTT | ENSP00000501081.1:p.Leu341= | |
| ENST00000674111.1:c.1682_1684delinsCTT | ENSP00000501162.1:p.Ser561= | |
| ENST00000674125.1:n.457_459delinsCTT | ||
| ENST00000231790.6:c.1746_1748delinsCTT | ENSP00000231790.2:p.Leu582= | |
| ENST00000413740.1:c.291-2953_291-2951delinsCTT | ENSP00000416476.1:n.291-2953_291-2951deli... | |
| ENST00000435176.5:c.1452_1454delinsCTT | ENSP00000402564.1:p.Leu484= | |
| ENST00000450420.5:c.182-2953_182-2951delinsCTT | ENSP00000393006.1:n.182-2953_182-2951deli... | |
| ENST00000455445.6:c.1023_1025delinsCTT | ENSP00000398272.2:p.Leu341= | |
| ENST00000456676.6:c.1721_1723delinsCTT | ||
| ENST00000458205.6:c.1023_1025delinsCTT | ENSP00000402667.2:p.Leu341= | |
| ENST00000536378.5:c.1023_1025delinsCTT | ENSP00000444286.2:p.Leu341= | |
| ENST00000539477.5:c.1023_1025delinsCTT | ENSP00000443665.1:p.Leu341= | |
| ENST00000616768.4:c.514_516delinsCTT | ||
| NM_000249.3:c.1746_1748delinsCTT , LRG_216t1:c.1746_1748delinsCTT | NP_000240.1:p.Leu582= | |
| NM_001167617.1:c.1452_1454delinsCTT | NP_001161089.1:p.Leu484= | |
| NM_001167618.1:c.1023_1025delinsCTT | NP_001161090.1:p.Leu341= | |
| NM_001167619.1:c.1023_1025delinsCTT | NP_001161091.1:p.Leu341= | |
| NM_001258271.1:c.1746_1748delinsCTT | NP_001245200.1:p.Leu582= | |
| NM_001258273.1:c.1023_1025delinsCTT | NP_001245202.1:p.Leu341= | |
| NM_001258274.1:c.1023_1025delinsCTT | NP_001245203.1:p.Leu341= | |
| XM_005265161.1:c.1539_1541delinsCTT | XP_005265218.1:p.Leu513= | |
| XM_005265163.1:c.1023_1025delinsCTT | XP_005265220.1:p.Leu341= | |
| XM_005265164.1:c.1023_1025delinsCTT | XP_005265221.1:p.Leu341= | |
| XM_005265166.1:c.723_725delinsCTT | XP_005265223.1:p.Leu241= | |
| XM_011533727.1:c.672_674delinsCTT | XP_011532029.1:p.Leu224= | |
| NM_001167617.2:c.1452_1454delinsCTT | NP_001161089.1:p.Leu484= | |
| NM_001167618.2:c.1023_1025delinsCTT | NP_001161090.1:p.Leu341= | |
| NM_001167619.2:c.1023_1025delinsCTT | NP_001161091.1:p.Leu341= | |
| NM_001258274.2:c.1023_1025delinsCTT | NP_001245203.1:p.Leu341= | |
| NM_001354615.1:c.1023_1025delinsCTT | NP_001341544.1:p.Leu341= | |
| NM_001354616.1:c.1023_1025delinsCTT | NP_001341545.1:p.Leu341= | |
| NM_001354617.1:c.1023_1025delinsCTT | NP_001341546.1:p.Leu341= | |
| NM_001354618.1:c.1023_1025delinsCTT | NP_001341547.1:p.Leu341= | |
| NM_001354619.1:c.1023_1025delinsCTT | NP_001341548.1:p.Leu341= | |
| NM_001354620.1:c.1452_1454delinsCTT | NP_001341549.1:p.Leu484= | |
| NM_001354621.1:c.723_725delinsCTT | NP_001341550.1:p.Leu241= | |
| NM_001354622.1:c.723_725delinsCTT | NP_001341551.1:p.Leu241= | |
| NM_001354623.1:c.723_725delinsCTT | NP_001341552.1:p.Leu241= | |
| NM_001354624.1:c.672_674delinsCTT | NP_001341553.1:p.Leu224= | |
| NM_001354625.1:c.672_674delinsCTT | NP_001341554.1:p.Leu224= | |
| NM_001354626.1:c.672_674delinsCTT | NP_001341555.1:p.Leu224= | |
| NM_001354627.1:c.672_674delinsCTT | NP_001341556.1:p.Leu224= | |
| NM_001354628.1:c.1746_1748delinsCTT | NP_001341557.1:p.Leu582= | |
| NM_001354629.1:c.1647_1649delinsCTT | NP_001341558.1:p.Leu549= | |
| NM_001354630.1:c.1732-984_1732-982delinsCTT | NP_001341559.1:n.1732-984_1732-982delinsC... | |
| XM_005265161.2:c.1539_1541delinsCTT | XP_005265218.1:p.Leu513= | |
| XM_017006450.2:c.723_725delinsCTT | XP_016861939.1:p.Leu241= | |
| NM_000249.4:c.1746_1748delinsCTT MANE Select | NP_000240.1:p.Leu582= | |
| NM_001167617.3:c.1452_1454delinsCTT | NP_001161089.1:p.Leu484= | |
| NM_001167618.3:c.1023_1025delinsCTT | NP_001161090.1:p.Leu341= | |
| NM_001167619.3:c.1023_1025delinsCTT | NP_001161091.1:p.Leu341= | |
| NM_001258271.2:c.1746_1748delinsCTT | NP_001245200.1:p.Leu582= | |
| NM_001258273.2:c.1023_1025delinsCTT | NP_001245202.1:p.Leu341= | |
| NM_001258274.3:c.1023_1025delinsCTT | NP_001245203.1:p.Leu341= | |
| NM_001354615.2:c.1023_1025delinsCTT | NP_001341544.1:p.Leu341= | |
| NM_001354616.2:c.1023_1025delinsCTT | NP_001341545.1:p.Leu341= | |
| NM_001354617.2:c.1023_1025delinsCTT | NP_001341546.1:p.Leu341= | |
| NM_001354618.2:c.1023_1025delinsCTT | NP_001341547.1:p.Leu341= | |
| NM_001354619.2:c.1023_1025delinsCTT | NP_001341548.1:p.Leu341= | |
| NM_001354620.2:c.1452_1454delinsCTT | NP_001341549.1:p.Leu484= | |
| NM_001354621.2:c.723_725delinsCTT | NP_001341550.1:p.Leu241= | |
| NM_001354622.2:c.723_725delinsCTT | NP_001341551.1:p.Leu241= | |
| NM_001354623.2:c.723_725delinsCTT | NP_001341552.1:p.Leu241= | |
| NM_001354624.2:c.672_674delinsCTT | NP_001341553.1:p.Leu224= | |
| NM_001354625.2:c.672_674delinsCTT | NP_001341554.1:p.Leu224= | |
| NM_001354626.2:c.672_674delinsCTT | NP_001341555.1:p.Leu224= | |
| NM_001354627.2:c.672_674delinsCTT | NP_001341556.1:p.Leu224= | |
| NM_001354628.2:c.1746_1748delinsCTT | NP_001341557.1:p.Leu582= | |
| NM_001354629.2:c.1647_1649delinsCTT | NP_001341558.1:p.Leu549= | |
| NM_001354630.2:c.1732-984_1732-982delinsCTT | NP_001341559.1:n.1732-984_1732-982delinsC... |