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_000002.12:g.47800534_47800590delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT , CM000664.2:g.47800534_47800590delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT | GRCh38 |
| NC_000002.11:g.48027673_48027729delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT , CM000664.1:g.48027673_48027729delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT | GRCh37 |
| NC_000002.10:g.47881177_47881233delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT | NCBI36 |
| NG_007111.1:g.22388_22444delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT , LRG_219:g.22388_22444delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.2254_2310delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000406248.2:p.Ser752= | |
| ENST00000420813.6:c.2254_2310delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000390382.2:p.Ser752= | |
| ENST00000455383.6:c.2254_2310delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000397484.2:p.Ser752= | |
| ENST00000700004.2:c.2551_2607delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000514752.2:p.Ser851= | |
| ENST00000699999.1:n.2635_2691delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ||
| ENST00000700000.1:c.1606+945_1606+1001delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000514749.1:n.1606+945_1606+1001del... | |
| ENST00000700002.1:c.2557_2613delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000514750.1:p.Ser853= | |
| ENST00000700003.1:c.628-2886_628-2830delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000514751.1:n.628-2886_628-2830deli... | |
| ENST00000700004.1:c.1708_1764delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000514752.1:p.Ser570= | |
| ENST00000234420.11:c.2551_2607delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) MANE Select | ENSP00000234420.5:p.Ser851= | |
| ENST00000540021.6:c.2161_2217delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000446475.1:p.Ser721= | |
| ENST00000652107.1:c.2254_2310delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000498629.1:p.Ser752= | |
| ENST00000673637.1:c.2254_2310delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000501310.1:p.Ser752= | |
| ENST00000234420.9:c.2551_2607delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000234420.4:p.Ser851= | |
| ENST00000405808.5:c.169+7605_169+7661delinsACACATTACTTTGAATCCTTCCAGAGCAGAAAGAAAATCAATAATCTTCTTCTTGCT (FBXO11) | ENSP00000385127.1:n.169+7605_169+7661deli... | |
| ENST00000434234.5:c.*124+7404_*124+7460delinsACACATTACTTTGAATCCTTCCAGAGCAGAAAGAAAATCAATAATCTTCTTCTTGCT (FBXO11) | ENSP00000402692.1:n.*124+7404_*124+7460de... | |
| ENST00000445503.5:c.*1898_*1954delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000405294.1:n.*1898_*1954delinsAGCA... | |
| ENST00000538136.1:c.1645_1701delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000438580.1:p.Ser549= | |
| ENST00000540021.5:c.2161_2217delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000446475.1:p.Ser721= | |
| ENST00000614496.4:c.1645_1701delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000477844.1:p.Ser549= | |
| ENST00000616033.4:c.2548_2604delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000480261.1:p.Ser850= | |
| ENST00000622629.4:c.-546_-490delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | ENSP00000482078.1:n.-546_-490delinsAGCAAG... | |
| NM_000179.2:c.2551_2607delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT , LRG_219t1:c.2551_2607delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | NP_000170.1:p.Ser851= | |
| NM_001281492.1:c.2161_2217delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | NP_001268421.1:p.Ser721= | |
| NM_001281493.1:c.1645_1701delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | NP_001268422.1:p.Ser549= | |
| NM_001281494.1:c.1645_1701delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | NP_001268423.1:p.Ser549= | |
| XM_005264271.1:c.2254_2310delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | XP_005264328.1:p.Ser752= | |
| XM_011532798.1:c.2368_2424delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | XP_011531100.1:p.Ser790= | |
| XM_011532799.1:c.2254_2310delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | XP_011531101.1:p.Ser752= | |
| XM_011532800.1:c.2254_2310delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | XP_011531102.1:p.Ser752= | |
| XM_024452819.1:c.2551_2607delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | XP_024308587.1:p.Ser851= | |
| XM_024452820.1:c.2368_2424delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | XP_024308588.1:p.Ser790= | |
| XM_024452821.1:c.2254_2310delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | XP_024308589.1:p.Ser752= | |
| XM_024452822.1:c.1645_1701delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | XP_024308590.1:p.Ser549= | |
| NM_000179.3:c.2551_2607delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) MANE Select | NP_000170.1:p.Ser851= | |
| NM_001281492.2:c.2161_2217delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | NP_001268421.1:p.Ser721= | |
| NM_001281493.2:c.1645_1701delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | NP_001268422.1:p.Ser549= | |
| NM_001281494.2:c.1645_1701delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (MSH6) | NP_001268423.1:p.Ser549= |