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.214730358_214730478delinsAATAATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCAC , CM000664.2:g.214730358_214730478delinsAATAATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCAC | GRCh38 |
| NC_000002.11:g.215595082_215595202delinsAATAATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCAC , CM000664.1:g.215595082_215595202delinsAATAATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCAC | GRCh37 |
| NC_000002.10:g.215303327_215303447delinsAATAATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCAC | NCBI36 |
| NG_012047.2:g.84227_84347delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | |
| NG_012047.3:g.84234_84354delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.1934_2001+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000421162.2:c.581_648+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000613192.2:c.189_*64+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000613374.5:c.524_591+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000613706.5:c.1526_1593+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000617164.5:c.1877_1944+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000619009.5:c.395_462+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000650978.1:c.3309_3376+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000260947.8:c.1934_2001+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000432456.5:c.31_98+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000455743.5:c.*1554_*1621+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000471590.5:n.269_336+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000613192.1:c.104_171+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000613374.4:c.524_591+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000613706.4:c.581_648+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000617164.4:c.1877_1944+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000619009.4:c.395_462+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| ENST00000620057.4:c.*600_*667+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NM_000465.3:c.1934_2001+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NM_001282543.1:c.1877_1944+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NM_001282545.1:c.581_648+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NM_001282548.1:c.524_591+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NM_001282549.1:c.395_462+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NR_104212.1:n.1927_1994+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NR_104215.1:n.1870_1937+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NR_104216.1:n.1126_1193+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| XM_011511567.1:c.1880_1947+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| XM_017004613.1:c.2033_2100+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| XR_002959322.1:n.2124_2244delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NM_000465.4:c.1934_2001+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NM_001282543.2:c.1877_1944+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NM_001282545.2:c.581_648+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NM_001282548.2:c.524_591+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NM_001282549.2:c.395_462+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NR_104212.2:n.1899_1966+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NR_104215.2:n.1842_1909+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT | ||
| NR_104216.2:n.1098_1165+53delinsGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTCATTGTTCTTATTATGACATACTATTATT |