UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143818122_143818150delinsGCCACAAAAGGCTTCCGTGGAGGGGCAGC , CM000670.2:g.143818122_143818150delinsGCCACAAAAGGCTTCCGTGGAGGGGCAGC | GRCh38 |
| NC_000008.9:g.144972280_144972308delinsGCCACAAAAGGCTTCCGTGGAGGGGCAGC | NCBI36 |
| NG_030583.1:g.2230_2258delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | |
| NG_033879.1:g.16237_16265delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524570.6:n.1301+43_1302-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ||
| ENST00000526151.6:n.2658+43_2659-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ||
| ENST00000526459.6:c.549+43_550-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000432610.2:n.549+43_550-47delinsGC... | |
| ENST00000527744.6:c.600+43_601-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000436131.2:n.600+43_601-47delinsGC... | |
| ENST00000531951.6:c.474+43_475-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000515500.1:n.474+43_475-47delinsGC... | |
| ENST00000532127.6:c.*448+43_*449-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000515484.1:n.*448+43_*449-47delins... | |
| ENST00000533162.2:c.714+43_715-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000433403.2:n.714+43_715-47delinsGC... | |
| ENST00000533362.2:c.678+43_679-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000515502.1:n.678+43_679-47delinsGC... | |
| ENST00000703744.1:n.1314+43_1315-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ||
| ENST00000703803.1:n.794_822delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ||
| ENST00000703846.1:c.474+43_475-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000515498.1:n.474+43_475-47delinsGC... | |
| ENST00000703847.1:c.714+43_715-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000515499.1:n.714+43_715-47delinsGC... | |
| ENST00000703848.1:n.634+43_635-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ||
| ENST00000703849.1:c.474+43_475-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000515501.1:n.474+43_475-47delinsGC... | |
| ENST00000703850.1:c.678+43_679-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000515503.1:n.678+43_679-47delinsGC... | |
| ENST00000703851.1:n.523+43_524-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ||
| ENST00000703852.1:c.*526+43_*527-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000515504.1:n.*526+43_*527-47delins... | |
| ENST00000703853.1:n.517+43_518-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ||
| ENST00000703866.1:c.603+43_604-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000515511.1:n.603+43_604-47delinsGC... | |
| ENST00000526683.6:c.603+43_604-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC MANE Select | ENSP00000434359.1:n.603+43_604-47delinsGC... | |
| ENST00000313352.11:c.423+43_424-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000322016.7:n.423+43_424-47delinsGC... | |
| ENST00000349157.10:c.552+43_553-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000322036.7:n.552+43_553-47delinsGC... | |
| ENST00000453551.6:c.474+43_475-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000402953.2:n.474+43_475-47delinsGC... | |
| ENST00000456095.6:c.516+43_517-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000395417.2:n.516+43_517-47delinsGC... | |
| ENST00000524570.5:n.1289+43_1290-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ||
| ENST00000526459.5:c.549+43_550-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000432610.1:n.549+43_550-47delinsGC... | |
| ENST00000526683.5:c.603+43_604-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000434359.1:n.603+43_604-47delinsGC... | |
| ENST00000527197.5:c.465+43_466-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000431960.1:n.465+43_466-47delinsGC... | |
| ENST00000527744.5:c.596+43_597-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ||
| ENST00000528320.5:n.658_686delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ||
| ENST00000528999.5:n.334+43_335-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ||
| ENST00000529999.5:c.663+43_664-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000434863.1:n.663+43_664-47delinsGC... | |
| ENST00000531897.5:c.663+43_664-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ENSP00000437309.1:n.663+43_664-47delinsGC... | |
| ENST00000531951.5:n.763+43_764-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ||
| ENST00000532884.1:c.240_268delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | ||
| NM_001136033.2:c.474+43_475-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001129505.1:n.474+43_475-47delinsGCTGC... | |
| NM_001271096.1:c.549+43_550-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001258025.1:n.549+43_550-47delinsGCTGC... | |
| NM_001271097.1:c.465+43_466-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001258026.1:n.465+43_466-47delinsGCTGC... | |
| NM_001271098.1:c.600+43_601-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001258027.1:n.600+43_601-47delinsGCTGC... | |
| NM_001271099.1:c.516+43_517-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001258028.1:n.516+43_517-47delinsGCTGC... | |
| NM_001271100.1:c.423+43_424-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001258029.1:n.423+43_424-47delinsGCTGC... | |
| NM_014281.4:c.552+43_553-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_055096.2:n.552+43_553-47delinsGCTGCCCC... | |
| NM_078480.2:c.603+43_604-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_510965.1:n.603+43_604-47delinsGCTGCCCC... | |
| XM_011516929.1:c.714+43_715-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | XP_011515231.1:n.714+43_715-47delinsGCTGC... | |
| XM_011516930.1:c.663+43_664-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | XP_011515232.1:n.663+43_664-47delinsGCTGC... | |
| NM_001362895.1:c.714+43_715-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001349824.1:n.714+43_715-47delinsGCTGC... | |
| NM_001362896.1:c.714+43_715-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001349825.1:n.714+43_715-47delinsGCTGC... | |
| NM_001362897.1:c.663+43_664-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001349826.1:n.663+43_664-47delinsGCTGC... | |
| XM_017013234.1:c.714+43_715-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | XP_016868723.1:n.714+43_715-47delinsGCTGC... | |
| XM_017013235.1:c.678+43_679-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | XP_016868724.1:n.678+43_679-47delinsGCTGC... | |
| XM_017013236.1:c.663+43_664-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | XP_016868725.1:n.663+43_664-47delinsGCTGC... | |
| XM_017013239.1:c.474+43_475-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | XP_016868728.1:n.474+43_475-47delinsGCTGC... | |
| XM_017013240.1:c.423+43_424-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | XP_016868729.1:n.423+43_424-47delinsGCTGC... | |
| NM_001136033.3:c.474+43_475-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001129505.1:n.474+43_475-47delinsGCTGC... | |
| NM_001271096.2:c.549+43_550-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001258025.1:n.549+43_550-47delinsGCTGC... | |
| NM_001271097.2:c.465+43_466-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001258026.1:n.465+43_466-47delinsGCTGC... | |
| NM_001271098.2:c.600+43_601-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001258027.1:n.600+43_601-47delinsGCTGC... | |
| NM_001271099.2:c.516+43_517-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001258028.1:n.516+43_517-47delinsGCTGC... | |
| NM_001271100.2:c.423+43_424-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001258029.1:n.423+43_424-47delinsGCTGC... | |
| NM_001362895.2:c.714+43_715-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001349824.1:n.714+43_715-47delinsGCTGC... | |
| NM_001362896.2:c.714+43_715-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001349825.1:n.714+43_715-47delinsGCTGC... | |
| NM_001362897.2:c.663+43_664-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_001349826.1:n.663+43_664-47delinsGCTGC... | |
| NM_014281.5:c.552+43_553-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC | NP_055096.2:n.552+43_553-47delinsGCTGCCCC... | |
| NM_078480.3:c.603+43_604-47delinsGCTGCCCCTCCACGGAAGCCTTTTGTGGC MANE Select | NP_510965.1:n.603+43_604-47delinsGCTGCCCC... |