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.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| MT | m.5774_14768del | CA2580610836 | |||
| MT | m.5780_14107del | CA2580610932 | |||
| MT | m.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.10106_15067del | CA645373340 | ClinVar | ||
| MT | m.10775_14941del | CA2740090229 | ClinVar | ||
| MT | m.10950_15540del | CA2580102079 | ClinVar | ||
| MT | m.11263_15374del | CA645373341 | ClinVar | ||
| MT | m.12114_14420del | CA645373342 | ClinVar | ||
| MT | m.14079del | CA2740098380 | MT-ND5 | c.1743del (p.Gly582AlafsTer2) | |
| MT | m.14079A= | CA2499568310 | MT-ND5 | c.1743A= (p.Lys581=) | |
| MT | m.14079A>C | CA414820813 | MT-ND5 | c.1743A>C (p.Lys581Asn) | |
| MT | m.14079A>G | CA913171409 | MT-ND5 | c.1743A>G (p.Lys581=) | dbSNP |
| MT | m.14079A>T | CA414820815 | MT-ND5 | c.1743A>T (p.Lys581Asn) | |
| MT | m.14080G>A | CA414820817 | MT-ND5 | c.1744G>A (p.Gly582Ser) | |
| MT | m.14080G>C | CA414820821 | MT-ND5 | c.1744G>C (p.Gly582Arg) | |
| MT | m.14080G= | CA2573326377 | MT-ND5 | c.1744G= (p.Gly582=) | |
| MT | m.14080G>T | CA414820819 | MT-ND5 | c.1744G>T (p.Gly582Cys) | |
| MT | m.14081G>A | CA414820822 | MT-ND5 | c.1745G>A (p.Gly582Asp) | dbSNP |
| MT | m.14081G>C | CA414820823 | MT-ND5 | c.1745G>C (p.Gly582Ala) | |
| MT | m.14081G= | CA2499568311 | MT-ND5 | c.1745G= (p.Gly582=) | |
| MT | m.14081G>T | CA414820824 | MT-ND5 | c.1745G>T (p.Gly582Val) | |
| MT | m.14082C>A | CA913171412 | MT-ND5 | c.1746C>A (p.Gly582=) | |
| MT | m.14082C= | CA2499568312 | MT-ND5 | c.1746C= (p.Gly582=) | |
| MT | m.14082C>G | CA913171411 | MT-ND5 | c.1746C>G (p.Gly582=) | |
| MT | m.14082C>T | CA913171410 | MT-ND5 | c.1746C>T (p.Gly582=) | dbSNP |
| MT | m.14083A= | CA2573326383 | MT-ND5 | c.1747A= (p.Ile583=) | |
| MT | m.14083A>C | CA414820826 | MT-ND5 | c.1747A>C (p.Ile583Leu) | |
| MT | m.14083A>G | CA414820828 | MT-ND5 | c.1747A>G (p.Ile583Val) | |
| MT | m.14083A>T | CA414820830 | MT-ND5 | c.1747A>T (p.Ile583Leu) | |
| MT | m.14084T>A | CA414820833 | MT-ND5 | c.1748T>A (p.Ile583Lys) | |
| MT | m.14084T>C | CA414820835 | MT-ND5 | c.1748T>C (p.Ile583Thr) | |
| MT | m.14084T>G | CA414820836 | MT-ND5 | c.1748T>G (p.Ile583Arg) | |
| MT | m.14084T= | CA2573326386 | MT-ND5 | c.1748T= (p.Ile583=) | |
| MT | m.14085A= | CA2573326390 | MT-ND5 | c.1749A= (p.Ile583=) | |
| MT | m.14085A>C | CA913171414 | MT-ND5 | c.1749A>C (p.Ile583=) | |
| MT | m.14085A>G | CA414820839 | MT-ND5 | c.1749A>G (p.Ile583Met) | |
| MT | m.14085A>T | CA913171413 | MT-ND5 | c.1749A>T (p.Ile583=) | |
| MT | m.14086A= | CA2573326392 | MT-ND5 | c.1750A= (p.Ile584=) | |
| MT | m.14086A>C | CA414820841 | MT-ND5 | c.1750A>C (p.Ile584Leu) | |
| MT | m.14086A>G | CA414820845 | MT-ND5 | c.1750A>G (p.Ile584Val) | |
| MT | m.14086A>T | CA414820844 | MT-ND5 | c.1750A>T (p.Ile584Phe) | |
| MT | m.14087T>A | CA414820848 | MT-ND5 | c.1751T>A (p.Ile584Asn) | |
| MT | m.14087T>C | CA414820849 | MT-ND5 | c.1751T>C (p.Ile584Thr) | |
| MT | m.14087T>G | CA414820851 | MT-ND5 | c.1751T>G (p.Ile584Ser) | |
| MT | m.14087T= | CA2573326395 | MT-ND5 | c.1751T= (p.Ile584=) | |
| MT | m.14088T>A | CA913171415 | MT-ND5 | c.1752T>A (p.Ile584=) | |
| MT | m.14088T>C | CA337099914 | MT-ND5 | c.1752T>C (p.Ile584=) | dbSNP |