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.37047539_37047559del , CM000665.2:g.37047539_37047559del | GRCh38 |
| NC_000003.11:g.37089030_37089050del , CM000665.1:g.37089030_37089050del | GRCh37 |
| NC_000003.10:g.37064034_37064054del | NCBI36 |
| NG_007109.2:g.59190_59210del , LRG_216:g.59190_59210del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1668-2947_1668-2927del | ENSP00000416476.2:n.1668-2947_1668-2927del | |
| ENST00000429117.6:c.1458_1478del | ENSP00000407019.2:p.Leu487_Asp493del | |
| ENST00000450420.6:c.1559-2947_1559-2927del | ENSP00000393006.2:n.1559-2947_1559-2927del | |
| ENST00000456676.7:c.1752_1772del | ENSP00000416687.3:p.Leu585_Asp591del | |
| ENST00000492474.6:c.1029_1049del | ENSP00000518393.1:p.Leu344_Asp350del | |
| ENST00000616768.6:c.1752_1772del | ENSP00000480669.3:p.Leu585_Asp591del | |
| ENST00000673673.2:c.1732-978_1732-958del | ENSP00000500979.2:n.1732-978_1732-958del | |
| ENST00000231790.8:c.1752_1772del MANE Select | ENSP00000231790.3:p.Leu585_Asp591del | |
| ENST00000413212.2:c.*670_*690del | ENSP00000400844.2:n.*670_*690del | |
| ENST00000432299.6:c.*1584_*1604del | ENSP00000416783.1:n.*1584_*1604del | |
| ENST00000441265.6:c.965_*1del | ENSP00000398392.2:n.[c.965_*1del;Thr322IlefsTer25] | |
| ENST00000447829.6:c.*863_*883del | ENSP00000399329.2:n.*863_*883del | |
| ENST00000539477.6:c.1029_1049del | ENSP00000443665.1:p.Leu344_Asp350del | |
| ENST00000616768.5:c.789_809del | ENSP00000480669.2:p.Leu264_Asp270del | |
| ENST00000673673.1:c.1685-978_1685-958del | ||
| ENST00000673715.1:c.1752_1772del | ENSP00000501301.1:p.Leu585_Asp591del | |
| ENST00000673741.1:n.786_806del | ||
| ENST00000673889.1:n.1134_1154del | ||
| ENST00000673897.1:c.*1544_*1564del | ENSP00000501109.1:n.*1544_*1564del | |
| ENST00000673899.1:c.1020_1040del | ENSP00000501030.1:p.Leu341_Asp347del | |
| ENST00000673947.1:c.*1892_*1912del | ENSP00000501304.1:n.*1892_*1912del | |
| ENST00000673972.1:c.*1630_*1650del | ENSP00000501281.1:n.*1630_*1650del | |
| ENST00000673990.1:n.1643_1663del | ||
| ENST00000674019.1:c.1029_1049del | ENSP00000501081.1:p.Leu344_Asp350del | |
| ENST00000674111.1:c.1688_*1del | ENSP00000501162.1:n.[c.1688_*1del;Thr563IlefsTer25] | |
| ENST00000674125.1:n.463_483del | ||
| ENST00000231790.6:c.1752_1772del | ENSP00000231790.2:p.Leu585_Asp591del | |
| ENST00000413740.1:c.291-2947_291-2927del | ENSP00000416476.1:n.291-2947_291-2927del | |
| ENST00000435176.5:c.1458_1478del | ENSP00000402564.1:p.Leu487_Asp493del | |
| ENST00000450420.5:c.182-2947_182-2927del | ENSP00000393006.1:n.182-2947_182-2927del | |
| ENST00000455445.6:c.1029_1049del | ENSP00000398272.2:p.Leu344_Asp350del | |
| ENST00000456676.6:c.1727_1747del | ||
| ENST00000458205.6:c.1029_1049del | ENSP00000402667.2:p.Leu344_Asp350del | |
| ENST00000536378.5:c.1029_1049del | ENSP00000444286.2:p.Leu344_Asp350del | |
| ENST00000539477.5:c.1029_1049del | ENSP00000443665.1:p.Leu344_Asp350del | |
| ENST00000616768.4:c.520_540del | ||
| NM_000249.3:c.1752_1772del , LRG_216t1:c.1752_1772del | NP_000240.1:p.Leu585_Asp591del | |
| NM_001167617.1:c.1458_1478del | NP_001161089.1:p.Leu487_Asp493del | |
| NM_001167618.1:c.1029_1049del | NP_001161090.1:p.Leu344_Asp350del | |
| NM_001167619.1:c.1029_1049del | NP_001161091.1:p.Leu344_Asp350del | |
| NM_001258271.1:c.1752_1772del | NP_001245200.1:p.Leu585_Asp591del | |
| NM_001258273.1:c.1029_1049del | NP_001245202.1:p.Leu344_Asp350del | |
| NM_001258274.1:c.1029_1049del | NP_001245203.1:p.Leu344_Asp350del | |
| XM_005265161.1:c.1545_1565del | XP_005265218.1:p.Leu516_Asp522del | |
| XM_005265163.1:c.1029_1049del | XP_005265220.1:p.Leu344_Asp350del | |
| XM_005265164.1:c.1029_1049del | XP_005265221.1:p.Leu344_Asp350del | |
| XM_005265166.1:c.729_749del | XP_005265223.1:p.Leu244_Asp250del | |
| XM_011533727.1:c.678_698del | XP_011532029.1:p.Leu227_Asp233del | |
| NM_001167617.2:c.1458_1478del | NP_001161089.1:p.Leu487_Asp493del | |
| NM_001167618.2:c.1029_1049del | NP_001161090.1:p.Leu344_Asp350del | |
| NM_001167619.2:c.1029_1049del | NP_001161091.1:p.Leu344_Asp350del | |
| NM_001258274.2:c.1029_1049del | NP_001245203.1:p.Leu344_Asp350del | |
| NM_001354615.1:c.1029_1049del | NP_001341544.1:p.Leu344_Asp350del | |
| NM_001354616.1:c.1029_1049del | NP_001341545.1:p.Leu344_Asp350del | |
| NM_001354617.1:c.1029_1049del | NP_001341546.1:p.Leu344_Asp350del | |
| NM_001354618.1:c.1029_1049del | NP_001341547.1:p.Leu344_Asp350del | |
| NM_001354619.1:c.1029_1049del | NP_001341548.1:p.Leu344_Asp350del | |
| NM_001354620.1:c.1458_1478del | NP_001341549.1:p.Leu487_Asp493del | |
| NM_001354621.1:c.729_749del | NP_001341550.1:p.Leu244_Asp250del | |
| NM_001354622.1:c.729_749del | NP_001341551.1:p.Leu244_Asp250del | |
| NM_001354623.1:c.729_749del | NP_001341552.1:p.Leu244_Asp250del | |
| NM_001354624.1:c.678_698del | NP_001341553.1:p.Leu227_Asp233del | |
| NM_001354625.1:c.678_698del | NP_001341554.1:p.Leu227_Asp233del | |
| NM_001354626.1:c.678_698del | NP_001341555.1:p.Leu227_Asp233del | |
| NM_001354627.1:c.678_698del | NP_001341556.1:p.Leu227_Asp233del | |
| NM_001354628.1:c.1752_1772del | NP_001341557.1:p.Leu585_Asp591del | |
| NM_001354629.1:c.1653_1673del | NP_001341558.1:p.Leu552_Asp558del | |
| NM_001354630.1:c.1732-978_1732-958del | NP_001341559.1:n.1732-978_1732-958del | |
| XM_005265161.2:c.1545_1565del | XP_005265218.1:p.Leu516_Asp522del | |
| XM_017006450.2:c.729_749del | XP_016861939.1:p.Leu244_Asp250del | |
| NM_000249.4:c.1752_1772del MANE Select | NP_000240.1:p.Leu585_Asp591del | |
| NM_001167617.3:c.1458_1478del | NP_001161089.1:p.Leu487_Asp493del | |
| NM_001167618.3:c.1029_1049del | NP_001161090.1:p.Leu344_Asp350del | |
| NM_001167619.3:c.1029_1049del | NP_001161091.1:p.Leu344_Asp350del | |
| NM_001258271.2:c.1752_1772del | NP_001245200.1:p.Leu585_Asp591del | |
| NM_001258273.2:c.1029_1049del | NP_001245202.1:p.Leu344_Asp350del | |
| NM_001258274.3:c.1029_1049del | NP_001245203.1:p.Leu344_Asp350del | |
| NM_001354615.2:c.1029_1049del | NP_001341544.1:p.Leu344_Asp350del | |
| NM_001354616.2:c.1029_1049del | NP_001341545.1:p.Leu344_Asp350del | |
| NM_001354617.2:c.1029_1049del | NP_001341546.1:p.Leu344_Asp350del | |
| NM_001354618.2:c.1029_1049del | NP_001341547.1:p.Leu344_Asp350del | |
| NM_001354619.2:c.1029_1049del | NP_001341548.1:p.Leu344_Asp350del | |
| NM_001354620.2:c.1458_1478del | NP_001341549.1:p.Leu487_Asp493del | |
| NM_001354621.2:c.729_749del | NP_001341550.1:p.Leu244_Asp250del | |
| NM_001354622.2:c.729_749del | NP_001341551.1:p.Leu244_Asp250del | |
| NM_001354623.2:c.729_749del | NP_001341552.1:p.Leu244_Asp250del | |
| NM_001354624.2:c.678_698del | NP_001341553.1:p.Leu227_Asp233del | |
| NM_001354625.2:c.678_698del | NP_001341554.1:p.Leu227_Asp233del | |
| NM_001354626.2:c.678_698del | NP_001341555.1:p.Leu227_Asp233del | |
| NM_001354627.2:c.678_698del | NP_001341556.1:p.Leu227_Asp233del | |
| NM_001354628.2:c.1752_1772del | NP_001341557.1:p.Leu585_Asp591del | |
| NM_001354629.2:c.1653_1673del | NP_001341558.1:p.Leu552_Asp558del | |
| NM_001354630.2:c.1732-978_1732-958del | NP_001341559.1:n.1732-978_1732-958del |