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 |
|---|---|---|---|---|---|
| Y | g.6866660_6866661insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT | CA1138819622 | AMELY | c.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA (n.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA) c.616-558_616-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA (n.616-558_616-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA) | gnomAD v3 gnomAD v4 |
| Y | g.6866660_6866661insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1138819708 | AMELY | c.574-562_574-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.574-562_574-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.616-562_616-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.616-562_616-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
| Y | g.6866660dup | CA337550908 | AMELY | c.574-562dup (n.574-562dup) c.616-562dup (n.616-562dup) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866659_6866660dup | CA1138819734 | AMELY | c.574-563_574-562dup (n.574-563_574-562dup) c.616-563_616-562dup (n.616-563_616-562dup) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866658_6866660dup | CA1138819731 | AMELY | c.574-564_574-562dup (n.574-564_574-562dup) c.616-564_616-562dup (n.616-564_616-562dup) | gnomAD v3 gnomAD v4 |
| Y | g.6866657_6866660dup | CA1138819722 | AMELY | c.574-565_574-562dup (n.574-565_574-562dup) c.616-565_616-562dup (n.616-565_616-562dup) | gnomAD v3 gnomAD v4 |
| Y | g.6866656_6866660dup | CA1138819716 | AMELY | c.574-566_574-562dup (n.574-566_574-562dup) c.616-566_616-562dup (n.616-566_616-562dup) | gnomAD v3 gnomAD v4 |
| Y | g.6866655_6866660dup | CA1138819713 | AMELY | c.574-567_574-562dup (n.574-567_574-562dup) c.616-567_616-562dup (n.616-567_616-562dup) | gnomAD v3 gnomAD v4 |
| Y | g.6866654_6866660dup | CA1138819753 | AMELY | c.574-568_574-562dup (n.574-568_574-562dup) c.616-568_616-562dup (n.616-568_616-562dup) | gnomAD v3 gnomAD v4 |
| Y | g.6866653_6866660dup | CA1138819711 | AMELY | c.574-569_574-562dup (n.574-569_574-562dup) c.616-569_616-562dup (n.616-569_616-562dup) | gnomAD v3 gnomAD v4 |
| Y | g.6866660del | CA1138819692 | AMELY | c.574-562del (n.574-562del) c.616-562del (n.616-562del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866659_6866660del | CA1138819658 | AMELY | c.574-563_574-562del (n.574-563_574-562del) c.616-563_616-562del (n.616-563_616-562del) | gnomAD v3 gnomAD v4 |
| Y | g.6866658_6866660del | CA2553707643 | AMELY | c.574-564_574-562del (n.574-564_574-562del) c.616-564_616-562del (n.616-564_616-562del) | |
| Y | g.6866657_6866660del | CA2551998352 | AMELY | c.574-565_574-562del (n.574-565_574-562del) c.616-565_616-562del (n.616-565_616-562del) | dbSNP |
| Y | g.6866656_6866660del | CA2529024694 | AMELY | c.574-566_574-562del (n.574-566_574-562del) c.616-566_616-562del (n.616-566_616-562del) | |
| Y | g.6866655_6866660del | CA2543911235 | AMELY | c.574-567_574-562del (n.574-567_574-562del) c.616-567_616-562del (n.616-567_616-562del) | |
| Y | g.6866654_6866660del | CA2512417040 | AMELY | c.574-568_574-562del (n.574-568_574-562del) c.616-568_616-562del (n.616-568_616-562del) | |
| Y | g.6866653_6866660del | CA1138819673 | AMELY | c.574-569_574-562del (n.574-569_574-562del) c.616-569_616-562del (n.616-569_616-562del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866652_6866660del | CA1138819668 | AMELY | c.574-570_574-562del (n.574-570_574-562del) c.616-570_616-562del (n.616-570_616-562del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866651_6866660del | CA1138819662 | AMELY | c.574-571_574-562del (n.574-571_574-562del) c.616-571_616-562del (n.616-571_616-562del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866661G= | CA2469903121 | AMELY | c.574-583C= (n.574-583C=) c.616-583C= (n.616-583C=) | |
| Y | g.6866661G>T | CA2469903122 | AMELY | c.574-583C>A (n.574-583C>A) c.616-583C>A (n.616-583C>A) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866662_6866663del | CA2520646126 | AMELY | c.574-584_574-583del (n.574-584_574-583del) c.616-584_616-583del (n.616-584_616-583del) | |
| Y | g.6866662_6866669del | CA1138819769 | AMELY | c.574-590_574-583del (n.574-590_574-583del) c.616-590_616-583del (n.616-590_616-583del) | gnomAD v3 gnomAD v4 |
| Y | g.6866662del | CA2522352508 | AMELY | c.574-584del (n.574-584del) c.616-584del (n.616-584del) | |
| Y | g.6866662A= | CA2469903123 | AMELY | c.574-584T= (n.574-584T=) c.616-584T= (n.616-584T=) | |
| Y | g.6866662A>G | CA2541913587 | AMELY | c.574-584T>C (n.574-584T>C) c.616-584T>C (n.616-584T>C) | |
| Y | g.6866662A>T | CA2469903124 | AMELY | c.574-584T>A (n.574-584T>A) c.616-584T>A (n.616-584T>A) | dbSNP |
| Y | g.6866662_6866663insTTT | CA2545639425 | AMELY | c.574-585_574-584insAAA (n.574-585_574-584insAAA) c.616-585_616-584insAAA (n.616-585_616-584insAAA) | |
| Y | g.6866663G>T | CA2532862097 | AMELY | c.574-585C>A (n.574-585C>A) c.616-585C>A (n.616-585C>A) | |
| Y | g.6866664G>A | CA2524103414 | AMELY | c.574-586C>T (n.574-586C>T) c.616-586C>T (n.616-586C>T) | |
| Y | g.6866665del | CA2824501755 | AMELY | c.574-587del (n.574-587del) c.616-587del (n.616-587del) | |
| Y | g.6866665C= | CA2469903125 | AMELY | c.574-587G= (n.574-587G=) c.616-587G= (n.616-587G=) | |
| Y | g.6866665C>G | CA2513993621 | AMELY | c.574-587G>C (n.574-587G>C) c.616-587G>C (n.616-587G>C) | |
| Y | g.6866665C>T | CA2469903126 | AMELY | c.574-587G>A (n.574-587G>A) c.616-587G>A (n.616-587G>A) | dbSNP |
| Y | g.6866666G>A | CA1138819770 | AMELY | c.574-588C>T (n.574-588C>T) c.616-588C>T (n.616-588C>T) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866666G>C | CA2521244994 | AMELY | c.574-588C>G (n.574-588C>G) c.616-588C>G (n.616-588C>G) | |
| Y | g.6866666G= | CA2469903127 | AMELY | c.574-588C= (n.574-588C=) c.616-588C= (n.616-588C=) | |
| Y | g.6866667G>T | CA2552473953 | AMELY | c.574-589C>A (n.574-589C>A) c.616-589C>A (n.616-589C>A) | |
| Y | g.6866668A= | CA2469903128 | AMELY | c.574-590T= (n.574-590T=) c.616-590T= (n.616-590T=) | |
| Y | g.6866668A>G | CA2469903129 | AMELY | c.574-590T>C (n.574-590T>C) c.616-590T>C (n.616-590T>C) | dbSNP |
| Y | g.6866668A>T | CA2824501756 | AMELY | c.574-590T>A (n.574-590T>A) c.616-590T>A (n.616-590T>A) | |
| Y | g.6866669G>T | CA1138819779 | AMELY | c.574-591C>A (n.574-591C>A) c.616-591C>A (n.616-591C>A) | gnomAD v3 gnomAD v4 |
| Y | g.6866671T>C | CA2519115029 | AMELY | c.574-593A>G (n.574-593A>G) c.616-593A>G (n.616-593A>G) | |
| Y | g.6866673C>A | CA2824501758 | AMELY | c.574-595G>T (n.574-595G>T) c.616-595G>T (n.616-595G>T) | |
| Y | g.6866674A>C | CA2561582905 | AMELY | c.574-596T>G (n.574-596T>G) c.616-596T>G (n.616-596T>G) | |
| Y | g.6866675C>A | CA2824501760 | AMELY | c.574-597G>T (n.574-597G>T) c.616-597G>T (n.616-597G>T) | |
| Y | g.6866675_6866676insA | CA2824501763 | AMELY | c.574-598_574-597insT (n.574-598_574-597insT) c.616-598_616-597insT (n.616-598_616-597insT) | |
| Y | g.6866676T>A | CA2553704900 | AMELY | c.574-598A>T (n.574-598A>T) c.616-598A>T (n.616-598A>T) | |
| Y | g.6866677C>A | CA2824501764 | AMELY | c.574-599G>T (n.574-599G>T) c.616-599G>T (n.616-599G>T) | |
| Y | g.6866680G= | CA2469903130 | AMELY | c.574-602C= (n.574-602C=) c.616-602C= (n.616-602C=) | |
| Y | g.6866680G>T | CA2469903131 | AMELY | c.574-602C>A (n.574-602C>A) c.616-602C>A (n.616-602C>A) | dbSNP |
| Y | g.6866682T>A | CA2531857700 | AMELY | c.574-604A>T (n.574-604A>T) c.616-604A>T (n.616-604A>T) | |
| Y | g.6866683A>T | CA2513913087 | AMELY | c.574-605T>A (n.574-605T>A) c.616-605T>A (n.616-605T>A) | |
| Y | g.6866687A= | CA2469903132 | AMELY | c.574-609T= (n.574-609T=) c.616-609T= (n.616-609T=) | |
| Y | g.6866687A>C | CA2469903133 | AMELY | c.574-609T>G (n.574-609T>G) c.616-609T>G (n.616-609T>G) | dbSNP |
| Y | g.6866695G>T | CA2567661501 | AMELY | c.574-617C>A (n.574-617C>A) c.616-617C>A (n.616-617C>A) | |
| Y | g.6866699A>T | CA2544775704 | AMELY | c.574-621T>A (n.574-621T>A) c.616-621T>A (n.616-621T>A) | |
| Y | g.6866706C= | CA2469903134 | AMELY | c.574-628G= (n.574-628G=) c.616-628G= (n.616-628G=) | |
| Y | g.6866706C>T | CA1138819783 | AMELY | c.574-628G>A (n.574-628G>A) c.616-628G>A (n.616-628G>A) | dbSNP |
| Y | g.6866707G>A | CA1138819788 | AMELY | c.574-629C>T (n.574-629C>T) c.616-629C>T (n.616-629C>T) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866707G= | CA2469903135 | AMELY | c.574-629C= (n.574-629C=) c.616-629C= (n.616-629C=) | |
| Y | g.6866718A>T | CA2568723244 | AMELY | c.574-640T>A (n.574-640T>A) c.616-640T>A (n.616-640T>A) | |
| Y | g.6866722C= | CA2469903136 | AMELY | c.574-644G= (n.574-644G=) c.616-644G= (n.616-644G=) | |
| Y | g.6866722C>T | CA1138819797 | AMELY | c.574-644G>A (n.574-644G>A) c.616-644G>A (n.616-644G>A) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866730A= | CA2469903137 | AMELY | c.574-652T= (n.574-652T=) c.616-652T= (n.616-652T=) | |
| Y | g.6866730A>C | CA2469903138 | AMELY | c.574-652T>G (n.574-652T>G) c.616-652T>G (n.616-652T>G) | dbSNP |
| Y | g.6866736T>A | CA2521244995 | AMELY | c.574-658A>T (n.574-658A>T) c.616-658A>T (n.616-658A>T) | |
| Y | g.6866737C>T | CA1138819798 | AMELY | c.574-659G>A (n.574-659G>A) c.616-659G>A (n.616-659G>A) | gnomAD v3 gnomAD v4 |
| Y | g.6866738G>A | CA2824501766 | AMELY | c.574-660C>T (n.574-660C>T) c.616-660C>T (n.616-660C>T) | |
| Y | g.6866740T>C | CA1138819830 | AMELY | c.574-662A>G (n.574-662A>G) c.616-662A>G (n.616-662A>G) | gnomAD v3 gnomAD v4 |
| Y | g.6866742G>T | CA2568185329 | AMELY | c.574-664C>A (n.574-664C>A) c.616-664C>A (n.616-664C>A) | |
| Y | g.6866751C>G | CA1138819832 | AMELY | c.574-673G>C (n.574-673G>C) c.616-673G>C (n.616-673G>C) | gnomAD v3 gnomAD v4 |