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.37050530_37050531del , CM000665.2:g.37050530_37050531del | GRCh38 |
| NC_000003.11:g.37092021_37092022del , CM000665.1:g.37092021_37092022del | GRCh37 |
| NC_000003.10:g.37067025_37067026del | NCBI36 |
| NG_007109.2:g.62181_62182del , LRG_216:g.62181_62182del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1712_1713del | ENSP00000416476.2:p.Trp571Ter | |
| ENST00000429117.6:c.1854_1855del | ENSP00000407019.2:p.Glu619ThrfsTer5 | |
| ENST00000450420.6:c.*40_*41del | ENSP00000393006.2:n.*40_*41del | |
| ENST00000456676.7:c.1941_1942del | ENSP00000416687.3:p.Glu648ThrfsTer5 | |
| ENST00000492474.6:c.1425_1426del | ENSP00000518393.1:p.Glu476ThrfsTer5 | |
| ENST00000616768.6:c.2055_2056del | ENSP00000480669.3:p.Glu686ThrfsTer5 | |
| ENST00000673673.2:c.1983_1984del | ENSP00000500979.2:p.Glu662ThrfsTer5 | |
| ENST00000231790.8:c.2148_2149del MANE Select | ENSP00000231790.3:p.Glu717ThrfsTer5 | |
| ENST00000413212.2:c.*1066_*1067del | ENSP00000400844.2:n.*1066_*1067del | |
| ENST00000432299.6:c.*1980_*1981del | ENSP00000416783.1:n.*1980_*1981del | |
| ENST00000447829.6:c.*1259_*1260del | ENSP00000399329.2:n.*1259_*1260del | |
| ENST00000539477.6:c.1425_1426del | ENSP00000443665.1:p.Glu476ThrfsTer5 | |
| ENST00000616768.5:c.1092_1093del | ENSP00000480669.2:p.Glu365ThrfsTer5 | |
| ENST00000673673.1:c.1936_1937del | ||
| ENST00000673741.1:n.1182_1183del | ||
| ENST00000673889.1:n.1530_1531del | ||
| ENST00000673897.1:c.*1940_*1941del | ENSP00000501109.1:n.*1940_*1941del | |
| ENST00000673899.1:c.1416_1417del | ENSP00000501030.1:p.Glu473ThrfsTer5 | |
| ENST00000673947.1:c.*2288_*2289del | ENSP00000501304.1:n.*2288_*2289del | |
| ENST00000673972.1:c.*2026_*2027del | ENSP00000501281.1:n.*2026_*2027del | |
| ENST00000674019.1:c.1425_1426del | ENSP00000501081.1:p.Glu476ThrfsTer5 | |
| ENST00000674111.1:c.*377_*378del | ENSP00000501162.1:n.*377_*378del | |
| ENST00000674125.1:n.859_860del | ||
| ENST00000231790.6:c.2148_2149del | ENSP00000231790.2:p.Glu717ThrfsTer5 | |
| ENST00000413740.1:c.335_336del | ENSP00000416476.1:p.Trp112Ter | |
| ENST00000435176.5:c.1854_1855del | ENSP00000402564.1:p.Glu619ThrfsTer5 | |
| ENST00000450420.5:c.226_227del | ENSP00000393006.1:n.226_227del | |
| ENST00000455445.6:c.1425_1426del | ENSP00000398272.2:p.Glu476ThrfsTer5 | |
| ENST00000456676.6:c.1916_1917del | ||
| ENST00000458205.6:c.1425_1426del | ENSP00000402667.2:p.Glu476ThrfsTer5 | |
| ENST00000536378.5:c.1425_1426del | ENSP00000444286.2:p.Glu476ThrfsTer5 | |
| ENST00000539477.5:c.1425_1426del | ENSP00000443665.1:p.Glu476ThrfsTer5 | |
| NM_000249.3:c.2148_2149del , LRG_216t1:c.2148_2149del | NP_000240.1:p.Glu717ThrfsTer5 | |
| NM_001167617.1:c.1854_1855del | NP_001161089.1:p.Glu619ThrfsTer5 | |
| NM_001167618.1:c.1425_1426del | NP_001161090.1:p.Glu476ThrfsTer5 | |
| NM_001167619.1:c.1425_1426del | NP_001161091.1:p.Glu476ThrfsTer5 | |
| NM_001258271.1:c.1941_1942del | NP_001245200.1:p.Glu648ThrfsTer5 | |
| NM_001258273.1:c.1425_1426del | NP_001245202.1:p.Glu476ThrfsTer5 | |
| NM_001258274.1:c.1425_1426del | NP_001245203.1:p.Glu476ThrfsTer5 | |
| XM_005265161.1:c.1941_1942del | XP_005265218.1:p.Glu648ThrfsTer5 | |
| XM_005265163.1:c.1425_1426del | XP_005265220.1:p.Glu476ThrfsTer5 | |
| XM_005265164.1:c.1425_1426del | XP_005265221.1:p.Glu476ThrfsTer5 | |
| XM_005265166.1:c.1125_1126del | XP_005265223.1:p.Glu376ThrfsTer5 | |
| XM_011533727.1:c.1074_1075del | XP_011532029.1:p.Glu359ThrfsTer5 | |
| NM_001167617.2:c.1854_1855del | NP_001161089.1:p.Glu619ThrfsTer5 | |
| NM_001167618.2:c.1425_1426del | NP_001161090.1:p.Glu476ThrfsTer5 | |
| NM_001167619.2:c.1425_1426del | NP_001161091.1:p.Glu476ThrfsTer5 | |
| NM_001258274.2:c.1425_1426del | NP_001245203.1:p.Glu476ThrfsTer5 | |
| NM_001354615.1:c.1425_1426del | NP_001341544.1:p.Glu476ThrfsTer5 | |
| NM_001354616.1:c.1425_1426del | NP_001341545.1:p.Glu476ThrfsTer5 | |
| NM_001354617.1:c.1425_1426del | NP_001341546.1:p.Glu476ThrfsTer5 | |
| NM_001354618.1:c.1425_1426del | NP_001341547.1:p.Glu476ThrfsTer5 | |
| NM_001354619.1:c.1425_1426del | NP_001341548.1:p.Glu476ThrfsTer5 | |
| NM_001354620.1:c.1854_1855del | NP_001341549.1:p.Glu619ThrfsTer5 | |
| NM_001354621.1:c.1125_1126del | NP_001341550.1:p.Glu376ThrfsTer5 | |
| NM_001354622.1:c.1125_1126del | NP_001341551.1:p.Glu376ThrfsTer5 | |
| NM_001354623.1:c.1125_1126del | NP_001341552.1:p.Glu376ThrfsTer5 | |
| NM_001354624.1:c.1074_1075del | NP_001341553.1:p.Glu359ThrfsTer5 | |
| NM_001354625.1:c.1074_1075del | NP_001341554.1:p.Glu359ThrfsTer5 | |
| NM_001354626.1:c.1074_1075del | NP_001341555.1:p.Glu359ThrfsTer5 | |
| NM_001354627.1:c.1074_1075del | NP_001341556.1:p.Glu359ThrfsTer5 | |
| NM_001354628.1:c.2055_2056del | NP_001341557.1:p.Glu686ThrfsTer5 | |
| NM_001354629.1:c.2049_2050del | NP_001341558.1:p.Glu684ThrfsTer5 | |
| NM_001354630.1:c.1983_1984del | NP_001341559.1:p.Glu662ThrfsTer5 | |
| XM_005265161.2:c.1941_1942del | XP_005265218.1:p.Glu648ThrfsTer5 | |
| XM_017006450.2:c.1125_1126del | XP_016861939.1:p.Glu376ThrfsTer5 | |
| NM_000249.4:c.2148_2149del MANE Select | NP_000240.1:p.Glu717ThrfsTer5 | |
| NM_001167617.3:c.1854_1855del | NP_001161089.1:p.Glu619ThrfsTer5 | |
| NM_001167618.3:c.1425_1426del | NP_001161090.1:p.Glu476ThrfsTer5 | |
| NM_001167619.3:c.1425_1426del | NP_001161091.1:p.Glu476ThrfsTer5 | |
| NM_001258271.2:c.1941_1942del | NP_001245200.1:p.Glu648ThrfsTer5 | |
| NM_001258273.2:c.1425_1426del | NP_001245202.1:p.Glu476ThrfsTer5 | |
| NM_001258274.3:c.1425_1426del | NP_001245203.1:p.Glu476ThrfsTer5 | |
| NM_001354615.2:c.1425_1426del | NP_001341544.1:p.Glu476ThrfsTer5 | |
| NM_001354616.2:c.1425_1426del | NP_001341545.1:p.Glu476ThrfsTer5 | |
| NM_001354617.2:c.1425_1426del | NP_001341546.1:p.Glu476ThrfsTer5 | |
| NM_001354618.2:c.1425_1426del | NP_001341547.1:p.Glu476ThrfsTer5 | |
| NM_001354619.2:c.1425_1426del | NP_001341548.1:p.Glu476ThrfsTer5 | |
| NM_001354620.2:c.1854_1855del | NP_001341549.1:p.Glu619ThrfsTer5 | |
| NM_001354621.2:c.1125_1126del | NP_001341550.1:p.Glu376ThrfsTer5 | |
| NM_001354622.2:c.1125_1126del | NP_001341551.1:p.Glu376ThrfsTer5 | |
| NM_001354623.2:c.1125_1126del | NP_001341552.1:p.Glu376ThrfsTer5 | |
| NM_001354624.2:c.1074_1075del | NP_001341553.1:p.Glu359ThrfsTer5 | |
| NM_001354625.2:c.1074_1075del | NP_001341554.1:p.Glu359ThrfsTer5 | |
| NM_001354626.2:c.1074_1075del | NP_001341555.1:p.Glu359ThrfsTer5 | |
| NM_001354627.2:c.1074_1075del | NP_001341556.1:p.Glu359ThrfsTer5 | |
| NM_001354628.2:c.2055_2056del | NP_001341557.1:p.Glu686ThrfsTer5 | |
| NM_001354629.2:c.2049_2050del | NP_001341558.1:p.Glu684ThrfsTer5 | |
| NM_001354630.2:c.1983_1984del | NP_001341559.1:p.Glu662ThrfsTer5 |