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.37050521_37050524del , CM000665.2:g.37050521_37050524del | GRCh38 |
| NC_000003.11:g.37092012_37092015del , CM000665.1:g.37092012_37092015del | GRCh37 |
| NC_000003.10:g.37067016_37067019del | NCBI36 |
| NG_007109.2:g.62172_62175del , LRG_216:g.62172_62175del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1703_1706del | ENSP00000416476.2:p.Ser568AsnfsTer8 | |
| ENST00000429117.6:c.1845_1848del | ENSP00000407019.2:p.Trp616LeufsTer? | |
| ENST00000450420.6:c.*31_*34del | ENSP00000393006.2:n.*31_*34del | |
| ENST00000456676.7:c.1932_1935del | ENSP00000416687.3:p.Trp645LeufsTer? | |
| ENST00000492474.6:c.1416_1419del | ENSP00000518393.1:p.Trp473LeufsTer? | |
| ENST00000616768.6:c.2046_2049del | ENSP00000480669.3:p.Trp683LeufsTer? | |
| ENST00000673673.2:c.1974_1977del | ENSP00000500979.2:p.Trp659LeufsTer? | |
| ENST00000231790.8:c.2139_2142del MANE Select | ENSP00000231790.3:p.Trp714LeufsTer? | |
| ENST00000413212.2:c.*1057_*1060del | ENSP00000400844.2:n.*1057_*1060del | |
| ENST00000432299.6:c.*1971_*1974del | ENSP00000416783.1:n.*1971_*1974del | |
| ENST00000447829.6:c.*1250_*1253del | ENSP00000399329.2:n.*1250_*1253del | |
| ENST00000539477.6:c.1416_1419del | ENSP00000443665.1:p.Trp473LeufsTer? | |
| ENST00000616768.5:c.1083_1086del | ENSP00000480669.2:p.Trp362LeufsTer? | |
| ENST00000673673.1:c.1927_1930del | ||
| ENST00000673741.1:n.1173_1176del | ||
| ENST00000673889.1:n.1521_1524del | ||
| ENST00000673897.1:c.*1931_*1934del | ENSP00000501109.1:n.*1931_*1934del | |
| ENST00000673899.1:c.1407_1410del | ENSP00000501030.1:p.Trp470LeufsTer? | |
| ENST00000673947.1:c.*2279_*2282del | ENSP00000501304.1:n.*2279_*2282del | |
| ENST00000673972.1:c.*2017_*2020del | ENSP00000501281.1:n.*2017_*2020del | |
| ENST00000674019.1:c.1416_1419del | ENSP00000501081.1:p.Trp473LeufsTer? | |
| ENST00000674111.1:c.*368_*371del | ENSP00000501162.1:n.*368_*371del | |
| ENST00000674125.1:n.850_853del | ||
| ENST00000231790.6:c.2139_2142del | ENSP00000231790.2:p.Trp714LeufsTer? | |
| ENST00000413740.1:c.326_329del | ENSP00000416476.1:p.Ser109AsnfsTer? | |
| ENST00000435176.5:c.1845_1848del | ENSP00000402564.1:p.Trp616LeufsTer? | |
| ENST00000450420.5:c.217_220del | ENSP00000393006.1:n.217_220del | |
| ENST00000455445.6:c.1416_1419del | ENSP00000398272.2:p.Trp473LeufsTer? | |
| ENST00000456676.6:c.1907_1910del | ||
| ENST00000458205.6:c.1416_1419del | ENSP00000402667.2:p.Trp473LeufsTer? | |
| ENST00000536378.5:c.1416_1419del | ENSP00000444286.2:p.Trp473LeufsTer? | |
| ENST00000539477.5:c.1416_1419del | ENSP00000443665.1:p.Trp473LeufsTer? | |
| NM_000249.3:c.2139_2142del , LRG_216t1:c.2139_2142del | NP_000240.1:p.Trp714LeufsTer? | |
| NM_001167617.1:c.1845_1848del | NP_001161089.1:p.Trp616LeufsTer? | |
| NM_001167618.1:c.1416_1419del | NP_001161090.1:p.Trp473LeufsTer? | |
| NM_001167619.1:c.1416_1419del | NP_001161091.1:p.Trp473LeufsTer? | |
| NM_001258271.1:c.1932_1935del | NP_001245200.1:p.Trp645LeufsTer? | |
| NM_001258273.1:c.1416_1419del | NP_001245202.1:p.Trp473LeufsTer? | |
| NM_001258274.1:c.1416_1419del | NP_001245203.1:p.Trp473LeufsTer? | |
| XM_005265161.1:c.1932_1935del | XP_005265218.1:p.Trp645LeufsTer? | |
| XM_005265163.1:c.1416_1419del | XP_005265220.1:p.Trp473LeufsTer? | |
| XM_005265164.1:c.1416_1419del | XP_005265221.1:p.Trp473LeufsTer? | |
| XM_005265166.1:c.1116_1119del | XP_005265223.1:p.Trp373LeufsTer? | |
| XM_011533727.1:c.1065_1068del | XP_011532029.1:p.Trp356LeufsTer? | |
| NM_001167617.2:c.1845_1848del | NP_001161089.1:p.Trp616LeufsTer? | |
| NM_001167618.2:c.1416_1419del | NP_001161090.1:p.Trp473LeufsTer? | |
| NM_001167619.2:c.1416_1419del | NP_001161091.1:p.Trp473LeufsTer? | |
| NM_001258274.2:c.1416_1419del | NP_001245203.1:p.Trp473LeufsTer? | |
| NM_001354615.1:c.1416_1419del | NP_001341544.1:p.Trp473LeufsTer? | |
| NM_001354616.1:c.1416_1419del | NP_001341545.1:p.Trp473LeufsTer? | |
| NM_001354617.1:c.1416_1419del | NP_001341546.1:p.Trp473LeufsTer? | |
| NM_001354618.1:c.1416_1419del | NP_001341547.1:p.Trp473LeufsTer? | |
| NM_001354619.1:c.1416_1419del | NP_001341548.1:p.Trp473LeufsTer? | |
| NM_001354620.1:c.1845_1848del | NP_001341549.1:p.Trp616LeufsTer? | |
| NM_001354621.1:c.1116_1119del | NP_001341550.1:p.Trp373LeufsTer? | |
| NM_001354622.1:c.1116_1119del | NP_001341551.1:p.Trp373LeufsTer? | |
| NM_001354623.1:c.1116_1119del | NP_001341552.1:p.Trp373LeufsTer? | |
| NM_001354624.1:c.1065_1068del | NP_001341553.1:p.Trp356LeufsTer? | |
| NM_001354625.1:c.1065_1068del | NP_001341554.1:p.Trp356LeufsTer? | |
| NM_001354626.1:c.1065_1068del | NP_001341555.1:p.Trp356LeufsTer? | |
| NM_001354627.1:c.1065_1068del | NP_001341556.1:p.Trp356LeufsTer? | |
| NM_001354628.1:c.2046_2049del | NP_001341557.1:p.Trp683LeufsTer? | |
| NM_001354629.1:c.2040_2043del | NP_001341558.1:p.Trp681LeufsTer? | |
| NM_001354630.1:c.1974_1977del | NP_001341559.1:p.Trp659LeufsTer? | |
| XM_005265161.2:c.1932_1935del | XP_005265218.1:p.Trp645LeufsTer? | |
| XM_017006450.2:c.1116_1119del | XP_016861939.1:p.Trp373LeufsTer? | |
| NM_000249.4:c.2139_2142del MANE Select | NP_000240.1:p.Trp714LeufsTer? | |
| NM_001167617.3:c.1845_1848del | NP_001161089.1:p.Trp616LeufsTer? | |
| NM_001167618.3:c.1416_1419del | NP_001161090.1:p.Trp473LeufsTer? | |
| NM_001167619.3:c.1416_1419del | NP_001161091.1:p.Trp473LeufsTer? | |
| NM_001258271.2:c.1932_1935del | NP_001245200.1:p.Trp645LeufsTer? | |
| NM_001258273.2:c.1416_1419del | NP_001245202.1:p.Trp473LeufsTer? | |
| NM_001258274.3:c.1416_1419del | NP_001245203.1:p.Trp473LeufsTer? | |
| NM_001354615.2:c.1416_1419del | NP_001341544.1:p.Trp473LeufsTer? | |
| NM_001354616.2:c.1416_1419del | NP_001341545.1:p.Trp473LeufsTer? | |
| NM_001354617.2:c.1416_1419del | NP_001341546.1:p.Trp473LeufsTer? | |
| NM_001354618.2:c.1416_1419del | NP_001341547.1:p.Trp473LeufsTer? | |
| NM_001354619.2:c.1416_1419del | NP_001341548.1:p.Trp473LeufsTer? | |
| NM_001354620.2:c.1845_1848del | NP_001341549.1:p.Trp616LeufsTer? | |
| NM_001354621.2:c.1116_1119del | NP_001341550.1:p.Trp373LeufsTer? | |
| NM_001354622.2:c.1116_1119del | NP_001341551.1:p.Trp373LeufsTer? | |
| NM_001354623.2:c.1116_1119del | NP_001341552.1:p.Trp373LeufsTer? | |
| NM_001354624.2:c.1065_1068del | NP_001341553.1:p.Trp356LeufsTer? | |
| NM_001354625.2:c.1065_1068del | NP_001341554.1:p.Trp356LeufsTer? | |
| NM_001354626.2:c.1065_1068del | NP_001341555.1:p.Trp356LeufsTer? | |
| NM_001354627.2:c.1065_1068del | NP_001341556.1:p.Trp356LeufsTer? | |
| NM_001354628.2:c.2046_2049del | NP_001341557.1:p.Trp683LeufsTer? | |
| NM_001354629.2:c.2040_2043del | NP_001341558.1:p.Trp681LeufsTer? | |
| NM_001354630.2:c.1974_1977del | NP_001341559.1:p.Trp659LeufsTer? |