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_000016.10:g.88835978_88836137delinsCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGAT , CM000678.2:g.88835978_88836137delinsCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGAT | GRCh38 |
| NC_000016.9:g.88902386_88902545delinsCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGAT , CM000678.1:g.88902386_88902545delinsCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGAT | GRCh37 |
| NC_000016.8:g.87429887_87430046delinsCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGAT | NCBI36 |
| NG_008667.1:g.25830_25989delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268695.10:c.633+64_634-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG MANE Select | ENSP00000268695.5:n.633+64_634-129delinsA... | |
| ENST00000268695.9:c.633+64_634-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | ENSP00000268695.5:n.633+64_634-129delinsA... | |
| ENST00000562593.5:n.4042+64_4043-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | ||
| ENST00000562831.1:c.417+64_418-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | ENSP00000455174.1:n.417+64_418-129delinsA... | |
| ENST00000562931.5:n.221+64_222-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | ||
| ENST00000566563.1:n.335+64_336-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | ||
| ENST00000567525.5:c.314+64_315-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | ENSP00000454484.1:n.314+64_315-129delinsA... | |
| ENST00000568613.5:c.752+64_753-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | ENSP00000457921.1:n.752+64_753-129delinsA... | |
| NM_000512.4:c.633+64_634-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | NP_000503.1:n.633+64_634-129delinsATCCTGT... | |
| XM_005256301.2:c.633+64_634-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | XP_005256358.1:n.633+64_634-129delinsATCC... | |
| XM_005256302.1:c.651+64_652-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | XP_005256359.1:n.651+64_652-129delinsATCC... | |
| XM_011522982.1:c.651+64_652-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | XP_011521284.1:n.651+64_652-129delinsATCC... | |
| XM_011522984.1:c.651+64_652-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | XP_011521286.1:n.651+64_652-129delinsATCC... | |
| NM_001323543.1:c.78+64_79-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | NP_001310472.1:n.78+64_79-129delinsATCCTG... | |
| NM_001323544.1:c.651+64_652-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | NP_001310473.1:n.651+64_652-129delinsATCC... | |
| XM_005256301.3:c.633+64_634-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | XP_005256358.1:n.633+64_634-129delinsATCC... | |
| XM_011522982.2:c.651+64_652-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | XP_011521284.1:n.651+64_652-129delinsATCC... | |
| XM_017023111.2:c.651+64_652-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | XP_016878600.1:n.651+64_652-129delinsATCC... | |
| XM_017023112.2:c.651+64_652-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | XP_016878601.1:n.651+64_652-129delinsATCC... | |
| XM_017023113.1:c.78+64_79-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | XP_016878602.1:n.78+64_79-129delinsATCCTG... | |
| NM_000512.5:c.633+64_634-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG MANE Select | NP_000503.1:n.633+64_634-129delinsATCCTGT... | |
| NM_001323543.2:c.78+64_79-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | NP_001310472.1:n.78+64_79-129delinsATCCTG... | |
| NM_001323544.2:c.651+64_652-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG | NP_001310473.1:n.651+64_652-129delinsATCC... |