UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37050340_37050342delinsCCT , CM000665.2:g.37050340_37050342delinsCCT | GRCh38 |
| NC_000003.11:g.37091831_37091833delinsCCT , CM000665.1:g.37091831_37091833delinsCCT | GRCh37 |
| NC_000003.10:g.37066835_37066837delinsCCT | NCBI36 |
| NG_007109.2:g.61991_61993delinsCCT , LRG_216:g.61991_61993delinsCCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1668-146_1668-144delinsCCT | ENSP00000416476.2:n.1668-146_1668-144deli... | |
| ENST00000429117.6:c.1810-146_1810-144delinsCCT | ENSP00000407019.2:n.1810-146_1810-144deli... | |
| ENST00000450420.6:c.1559-146_1559-144delinsCCT | ENSP00000393006.2:n.1559-146_1559-144deli... | |
| ENST00000456676.7:c.1897-146_1897-144delinsCCT | ENSP00000416687.3:n.1897-146_1897-144deli... | |
| ENST00000492474.6:c.1381-146_1381-144delinsCCT | ENSP00000518393.1:n.1381-146_1381-144deli... | |
| ENST00000616768.6:c.2011-146_2011-144delinsCCT | ENSP00000480669.3:n.2011-146_2011-144deli... | |
| ENST00000673673.2:c.1939-146_1939-144delinsCCT | ENSP00000500979.2:n.1939-146_1939-144deli... | |
| ENST00000231790.8:c.2104-146_2104-144delinsCCT MANE Select | ENSP00000231790.3:n.2104-146_2104-144deli... | |
| ENST00000413212.2:c.*1022-146_*1022-144delinsCCT | ENSP00000400844.2:n.*1022-146_*1022-144de... | |
| ENST00000432299.6:c.*1936-146_*1936-144delinsCCT | ENSP00000416783.1:n.*1936-146_*1936-144de... | |
| ENST00000447829.6:c.*1215-146_*1215-144delinsCCT | ENSP00000399329.2:n.*1215-146_*1215-144de... | |
| ENST00000539477.6:c.1381-146_1381-144delinsCCT | ENSP00000443665.1:n.1381-146_1381-144deli... | |
| ENST00000616768.5:c.1048-146_1048-144delinsCCT | ENSP00000480669.2:n.1048-146_1048-144deli... | |
| ENST00000673673.1:c.1892-146_1892-144delinsCCT | ||
| ENST00000673741.1:n.1138-146_1138-144delinsCCT | ||
| ENST00000673889.1:n.1486-146_1486-144delinsCCT | ||
| ENST00000673897.1:c.*1896-146_*1896-144delinsCCT | ENSP00000501109.1:n.*1896-146_*1896-144de... | |
| ENST00000673899.1:c.1372-146_1372-144delinsCCT | ENSP00000501030.1:n.1372-146_1372-144deli... | |
| ENST00000673947.1:c.*2244-146_*2244-144delinsCCT | ENSP00000501304.1:n.*2244-146_*2244-144de... | |
| ENST00000673972.1:c.*1982-146_*1982-144delinsCCT | ENSP00000501281.1:n.*1982-146_*1982-144de... | |
| ENST00000674019.1:c.1381-146_1381-144delinsCCT | ENSP00000501081.1:n.1381-146_1381-144deli... | |
| ENST00000674111.1:c.*333-146_*333-144delinsCCT | ENSP00000501162.1:n.*333-146_*333-144deli... | |
| ENST00000674125.1:n.815-146_815-144delinsCCT | ||
| ENST00000231790.6:c.2104-146_2104-144delinsCCT | ENSP00000231790.2:n.2104-146_2104-144deli... | |
| ENST00000413740.1:c.291-146_291-144delinsCCT | ENSP00000416476.1:n.291-146_291-144delins... | |
| ENST00000435176.5:c.1810-146_1810-144delinsCCT | ENSP00000402564.1:n.1810-146_1810-144deli... | |
| ENST00000450420.5:c.182-146_182-144delinsCCT | ENSP00000393006.1:n.182-146_182-144delins... | |
| ENST00000455445.6:c.1381-146_1381-144delinsCCT | ENSP00000398272.2:n.1381-146_1381-144deli... | |
| ENST00000456676.6:c.1872-146_1872-144delinsCCT | ||
| ENST00000458205.6:c.1381-146_1381-144delinsCCT | ENSP00000402667.2:n.1381-146_1381-144deli... | |
| ENST00000536378.5:c.1381-146_1381-144delinsCCT | ENSP00000444286.2:n.1381-146_1381-144deli... | |
| ENST00000539477.5:c.1381-146_1381-144delinsCCT | ENSP00000443665.1:n.1381-146_1381-144deli... | |
| NM_000249.3:c.2104-146_2104-144delinsCCT , LRG_216t1:c.2104-146_2104-144delinsCCT | NP_000240.1:n.2104-146_2104-144delinsCCT | |
| NM_001167617.1:c.1810-146_1810-144delinsCCT | NP_001161089.1:n.1810-146_1810-144delinsC... | |
| NM_001167618.1:c.1381-146_1381-144delinsCCT | NP_001161090.1:n.1381-146_1381-144delinsC... | |
| NM_001167619.1:c.1381-146_1381-144delinsCCT | NP_001161091.1:n.1381-146_1381-144delinsC... | |
| NM_001258271.1:c.1897-146_1897-144delinsCCT | NP_001245200.1:n.1897-146_1897-144delinsC... | |
| NM_001258273.1:c.1381-146_1381-144delinsCCT | NP_001245202.1:n.1381-146_1381-144delinsC... | |
| NM_001258274.1:c.1381-146_1381-144delinsCCT | NP_001245203.1:n.1381-146_1381-144delinsC... | |
| XM_005265161.1:c.1897-146_1897-144delinsCCT | XP_005265218.1:n.1897-146_1897-144delinsC... | |
| XM_005265163.1:c.1381-146_1381-144delinsCCT | XP_005265220.1:n.1381-146_1381-144delinsC... | |
| XM_005265164.1:c.1381-146_1381-144delinsCCT | XP_005265221.1:n.1381-146_1381-144delinsC... | |
| XM_005265166.1:c.1081-146_1081-144delinsCCT | XP_005265223.1:n.1081-146_1081-144delinsC... | |
| XM_011533727.1:c.1030-146_1030-144delinsCCT | XP_011532029.1:n.1030-146_1030-144delinsC... | |
| NM_001167617.2:c.1810-146_1810-144delinsCCT | NP_001161089.1:n.1810-146_1810-144delinsC... | |
| NM_001167618.2:c.1381-146_1381-144delinsCCT | NP_001161090.1:n.1381-146_1381-144delinsC... | |
| NM_001167619.2:c.1381-146_1381-144delinsCCT | NP_001161091.1:n.1381-146_1381-144delinsC... | |
| NM_001258274.2:c.1381-146_1381-144delinsCCT | NP_001245203.1:n.1381-146_1381-144delinsC... | |
| NM_001354615.1:c.1381-146_1381-144delinsCCT | NP_001341544.1:n.1381-146_1381-144delinsC... | |
| NM_001354616.1:c.1381-146_1381-144delinsCCT | NP_001341545.1:n.1381-146_1381-144delinsC... | |
| NM_001354617.1:c.1381-146_1381-144delinsCCT | NP_001341546.1:n.1381-146_1381-144delinsC... | |
| NM_001354618.1:c.1381-146_1381-144delinsCCT | NP_001341547.1:n.1381-146_1381-144delinsC... | |
| NM_001354619.1:c.1381-146_1381-144delinsCCT | NP_001341548.1:n.1381-146_1381-144delinsC... | |
| NM_001354620.1:c.1810-146_1810-144delinsCCT | NP_001341549.1:n.1810-146_1810-144delinsC... | |
| NM_001354621.1:c.1081-146_1081-144delinsCCT | NP_001341550.1:n.1081-146_1081-144delinsC... | |
| NM_001354622.1:c.1081-146_1081-144delinsCCT | NP_001341551.1:n.1081-146_1081-144delinsC... | |
| NM_001354623.1:c.1081-146_1081-144delinsCCT | NP_001341552.1:n.1081-146_1081-144delinsC... | |
| NM_001354624.1:c.1030-146_1030-144delinsCCT | NP_001341553.1:n.1030-146_1030-144delinsC... | |
| NM_001354625.1:c.1030-146_1030-144delinsCCT | NP_001341554.1:n.1030-146_1030-144delinsC... | |
| NM_001354626.1:c.1030-146_1030-144delinsCCT | NP_001341555.1:n.1030-146_1030-144delinsC... | |
| NM_001354627.1:c.1030-146_1030-144delinsCCT | NP_001341556.1:n.1030-146_1030-144delinsC... | |
| NM_001354628.1:c.2011-146_2011-144delinsCCT | NP_001341557.1:n.2011-146_2011-144delinsC... | |
| NM_001354629.1:c.2005-146_2005-144delinsCCT | NP_001341558.1:n.2005-146_2005-144delinsC... | |
| NM_001354630.1:c.1939-146_1939-144delinsCCT | NP_001341559.1:n.1939-146_1939-144delinsC... | |
| XM_005265161.2:c.1897-146_1897-144delinsCCT | XP_005265218.1:n.1897-146_1897-144delinsC... | |
| XM_017006450.2:c.1081-146_1081-144delinsCCT | XP_016861939.1:n.1081-146_1081-144delinsC... | |
| NM_000249.4:c.2104-146_2104-144delinsCCT MANE Select | NP_000240.1:n.2104-146_2104-144delinsCCT | |
| NM_001167617.3:c.1810-146_1810-144delinsCCT | NP_001161089.1:n.1810-146_1810-144delinsC... | |
| NM_001167618.3:c.1381-146_1381-144delinsCCT | NP_001161090.1:n.1381-146_1381-144delinsC... | |
| NM_001167619.3:c.1381-146_1381-144delinsCCT | NP_001161091.1:n.1381-146_1381-144delinsC... | |
| NM_001258271.2:c.1897-146_1897-144delinsCCT | NP_001245200.1:n.1897-146_1897-144delinsC... | |
| NM_001258273.2:c.1381-146_1381-144delinsCCT | NP_001245202.1:n.1381-146_1381-144delinsC... | |
| NM_001258274.3:c.1381-146_1381-144delinsCCT | NP_001245203.1:n.1381-146_1381-144delinsC... | |
| NM_001354615.2:c.1381-146_1381-144delinsCCT | NP_001341544.1:n.1381-146_1381-144delinsC... | |
| NM_001354616.2:c.1381-146_1381-144delinsCCT | NP_001341545.1:n.1381-146_1381-144delinsC... | |
| NM_001354617.2:c.1381-146_1381-144delinsCCT | NP_001341546.1:n.1381-146_1381-144delinsC... | |
| NM_001354618.2:c.1381-146_1381-144delinsCCT | NP_001341547.1:n.1381-146_1381-144delinsC... | |
| NM_001354619.2:c.1381-146_1381-144delinsCCT | NP_001341548.1:n.1381-146_1381-144delinsC... | |
| NM_001354620.2:c.1810-146_1810-144delinsCCT | NP_001341549.1:n.1810-146_1810-144delinsC... | |
| NM_001354621.2:c.1081-146_1081-144delinsCCT | NP_001341550.1:n.1081-146_1081-144delinsC... | |
| NM_001354622.2:c.1081-146_1081-144delinsCCT | NP_001341551.1:n.1081-146_1081-144delinsC... | |
| NM_001354623.2:c.1081-146_1081-144delinsCCT | NP_001341552.1:n.1081-146_1081-144delinsC... | |
| NM_001354624.2:c.1030-146_1030-144delinsCCT | NP_001341553.1:n.1030-146_1030-144delinsC... | |
| NM_001354625.2:c.1030-146_1030-144delinsCCT | NP_001341554.1:n.1030-146_1030-144delinsC... | |
| NM_001354626.2:c.1030-146_1030-144delinsCCT | NP_001341555.1:n.1030-146_1030-144delinsC... | |
| NM_001354627.2:c.1030-146_1030-144delinsCCT | NP_001341556.1:n.1030-146_1030-144delinsC... | |
| NM_001354628.2:c.2011-146_2011-144delinsCCT | NP_001341557.1:n.2011-146_2011-144delinsC... | |
| NM_001354629.2:c.2005-146_2005-144delinsCCT | NP_001341558.1:n.2005-146_2005-144delinsC... | |
| NM_001354630.2:c.1939-146_1939-144delinsCCT | NP_001341559.1:n.1939-146_1939-144delinsC... |