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.37048904_37048908del , CM000665.2:g.37048904_37048908del | GRCh38 |
| NC_000003.11:g.37090395_37090399del , CM000665.1:g.37090395_37090399del | GRCh37 |
| NC_000003.10:g.37065399_37065403del | NCBI36 |
| NG_007109.2:g.60555_60559del , LRG_216:g.60555_60559del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1668-1582_1668-1578del | ENSP00000416476.2:n.1668-1582_1668-1578de... | |
| ENST00000429117.6:c.1696_1700del | ENSP00000407019.2:p.Val566LeufsTer9 | |
| ENST00000450420.6:c.1559-1582_1559-1578del | ENSP00000393006.2:n.1559-1582_1559-1578de... | |
| ENST00000456676.7:c.1896+1221_1896+1225del | ENSP00000416687.3:n.1896+1221_1896+1225de... | |
| ENST00000492474.6:c.1267_1271del | ENSP00000518393.1:p.Val423LeufsTer9 | |
| ENST00000616768.6:c.1897_1901del | ENSP00000480669.3:p.Val633LeufsTer9 | |
| ENST00000673673.2:c.1825_1829del | ENSP00000500979.2:p.Val609LeufsTer9 | |
| ENST00000231790.8:c.1990_1994del MANE Select | ENSP00000231790.3:p.Val664LeufsTer9 | |
| ENST00000413212.2:c.*908_*912del | ENSP00000400844.2:n.*908_*912del | |
| ENST00000432299.6:c.*1822_*1826del | ENSP00000416783.1:n.*1822_*1826del | |
| ENST00000447829.6:c.*1101_*1105del | ENSP00000399329.2:n.*1101_*1105del | |
| ENST00000539477.6:c.1267_1271del | ENSP00000443665.1:p.Val423LeufsTer9 | |
| ENST00000616768.5:c.934_938del | ENSP00000480669.2:p.Val312LeufsTer9 | |
| ENST00000673673.1:c.1778_1782del | ||
| ENST00000673741.1:n.1024_1028del | ||
| ENST00000673889.1:n.1372_1376del | ||
| ENST00000673897.1:c.*1782_*1786del | ENSP00000501109.1:n.*1782_*1786del | |
| ENST00000673899.1:c.1258_1262del | ENSP00000501030.1:p.Val420LeufsTer9 | |
| ENST00000673947.1:c.*2130_*2134del | ENSP00000501304.1:n.*2130_*2134del | |
| ENST00000673972.1:c.*1868_*1872del | ENSP00000501281.1:n.*1868_*1872del | |
| ENST00000674019.1:c.1267_1271del | ENSP00000501081.1:p.Val423LeufsTer9 | |
| ENST00000674111.1:c.*219_*223del | ENSP00000501162.1:n.*219_*223del | |
| ENST00000674125.1:n.701_705del | ||
| ENST00000231790.6:c.1990_1994del | ENSP00000231790.2:p.Val664LeufsTer9 | |
| ENST00000413740.1:c.291-1582_291-1578del | ENSP00000416476.1:n.291-1582_291-1578del | |
| ENST00000435176.5:c.1696_1700del | ENSP00000402564.1:p.Val566LeufsTer9 | |
| ENST00000450420.5:c.182-1582_182-1578del | ENSP00000393006.1:n.182-1582_182-1578del | |
| ENST00000455445.6:c.1267_1271del | ENSP00000398272.2:p.Val423LeufsTer9 | |
| ENST00000456676.6:c.1871+1221_1871+1225del | ||
| ENST00000458205.6:c.1267_1271del | ENSP00000402667.2:p.Val423LeufsTer9 | |
| ENST00000536378.5:c.1267_1271del | ENSP00000444286.2:p.Val423LeufsTer9 | |
| ENST00000539477.5:c.1267_1271del | ENSP00000443665.1:p.Val423LeufsTer9 | |
| NM_000249.3:c.1990_1994del , LRG_216t1:c.1990_1994del | NP_000240.1:p.Val664LeufsTer9 | |
| NM_001167617.1:c.1696_1700del | NP_001161089.1:p.Val566LeufsTer9 | |
| NM_001167618.1:c.1267_1271del | NP_001161090.1:p.Val423LeufsTer9 | |
| NM_001167619.1:c.1267_1271del | NP_001161091.1:p.Val423LeufsTer9 | |
| NM_001258271.1:c.1896+1221_1896+1225del | NP_001245200.1:n.1896+1221_1896+1225del | |
| NM_001258273.1:c.1267_1271del | NP_001245202.1:p.Val423LeufsTer9 | |
| NM_001258274.1:c.1267_1271del | NP_001245203.1:p.Val423LeufsTer9 | |
| XM_005265161.1:c.1783_1787del | XP_005265218.1:p.Val595LeufsTer9 | |
| XM_005265163.1:c.1267_1271del | XP_005265220.1:p.Val423LeufsTer9 | |
| XM_005265164.1:c.1267_1271del | XP_005265221.1:p.Val423LeufsTer9 | |
| XM_005265166.1:c.967_971del | XP_005265223.1:p.Val323LeufsTer9 | |
| XM_011533727.1:c.916_920del | XP_011532029.1:p.Val306LeufsTer9 | |
| NM_001167617.2:c.1696_1700del | NP_001161089.1:p.Val566LeufsTer9 | |
| NM_001167618.2:c.1267_1271del | NP_001161090.1:p.Val423LeufsTer9 | |
| NM_001167619.2:c.1267_1271del | NP_001161091.1:p.Val423LeufsTer9 | |
| NM_001258274.2:c.1267_1271del | NP_001245203.1:p.Val423LeufsTer9 | |
| NM_001354615.1:c.1267_1271del | NP_001341544.1:p.Val423LeufsTer9 | |
| NM_001354616.1:c.1267_1271del | NP_001341545.1:p.Val423LeufsTer9 | |
| NM_001354617.1:c.1267_1271del | NP_001341546.1:p.Val423LeufsTer9 | |
| NM_001354618.1:c.1267_1271del | NP_001341547.1:p.Val423LeufsTer9 | |
| NM_001354619.1:c.1267_1271del | NP_001341548.1:p.Val423LeufsTer9 | |
| NM_001354620.1:c.1696_1700del | NP_001341549.1:p.Val566LeufsTer9 | |
| NM_001354621.1:c.967_971del | NP_001341550.1:p.Val323LeufsTer9 | |
| NM_001354622.1:c.967_971del | NP_001341551.1:p.Val323LeufsTer9 | |
| NM_001354623.1:c.967_971del | NP_001341552.1:p.Val323LeufsTer9 | |
| NM_001354624.1:c.916_920del | NP_001341553.1:p.Val306LeufsTer9 | |
| NM_001354625.1:c.916_920del | NP_001341554.1:p.Val306LeufsTer9 | |
| NM_001354626.1:c.916_920del | NP_001341555.1:p.Val306LeufsTer9 | |
| NM_001354627.1:c.916_920del | NP_001341556.1:p.Val306LeufsTer9 | |
| NM_001354628.1:c.1897_1901del | NP_001341557.1:p.Val633LeufsTer9 | |
| NM_001354629.1:c.1891_1895del | NP_001341558.1:p.Val631LeufsTer9 | |
| NM_001354630.1:c.1825_1829del | NP_001341559.1:p.Val609LeufsTer9 | |
| XM_005265161.2:c.1783_1787del | XP_005265218.1:p.Val595LeufsTer9 | |
| XM_017006450.2:c.967_971del | XP_016861939.1:p.Val323LeufsTer9 | |
| NM_000249.4:c.1990_1994del MANE Select | NP_000240.1:p.Val664LeufsTer9 | |
| NM_001167617.3:c.1696_1700del | NP_001161089.1:p.Val566LeufsTer9 | |
| NM_001167618.3:c.1267_1271del | NP_001161090.1:p.Val423LeufsTer9 | |
| NM_001167619.3:c.1267_1271del | NP_001161091.1:p.Val423LeufsTer9 | |
| NM_001258271.2:c.1896+1221_1896+1225del | NP_001245200.1:n.1896+1221_1896+1225del | |
| NM_001258273.2:c.1267_1271del | NP_001245202.1:p.Val423LeufsTer9 | |
| NM_001258274.3:c.1267_1271del | NP_001245203.1:p.Val423LeufsTer9 | |
| NM_001354615.2:c.1267_1271del | NP_001341544.1:p.Val423LeufsTer9 | |
| NM_001354616.2:c.1267_1271del | NP_001341545.1:p.Val423LeufsTer9 | |
| NM_001354617.2:c.1267_1271del | NP_001341546.1:p.Val423LeufsTer9 | |
| NM_001354618.2:c.1267_1271del | NP_001341547.1:p.Val423LeufsTer9 | |
| NM_001354619.2:c.1267_1271del | NP_001341548.1:p.Val423LeufsTer9 | |
| NM_001354620.2:c.1696_1700del | NP_001341549.1:p.Val566LeufsTer9 | |
| NM_001354621.2:c.967_971del | NP_001341550.1:p.Val323LeufsTer9 | |
| NM_001354622.2:c.967_971del | NP_001341551.1:p.Val323LeufsTer9 | |
| NM_001354623.2:c.967_971del | NP_001341552.1:p.Val323LeufsTer9 | |
| NM_001354624.2:c.916_920del | NP_001341553.1:p.Val306LeufsTer9 | |
| NM_001354625.2:c.916_920del | NP_001341554.1:p.Val306LeufsTer9 | |
| NM_001354626.2:c.916_920del | NP_001341555.1:p.Val306LeufsTer9 | |
| NM_001354627.2:c.916_920del | NP_001341556.1:p.Val306LeufsTer9 | |
| NM_001354628.2:c.1897_1901del | NP_001341557.1:p.Val633LeufsTer9 | |
| NM_001354629.2:c.1891_1895del | NP_001341558.1:p.Val631LeufsTer9 | |
| NM_001354630.2:c.1825_1829del | NP_001341559.1:p.Val609LeufsTer9 |