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 |
|---|---|---|---|---|---|
| X | g.108620338_108620409del | CA891843942 | COL4A5 | c.2589_2660del (p.Ser864_Gly887del) n.2045_2116del c.2265_2336del (p.Ser756_Gly779del) c.162_233del (p.Ser55_Gly78del) c.2604_2675del (p.Ser869_Gly892del) c.924_995del (p.Ser309_Gly332del) | |
| X | g.108620385_108620420del | CA2695235219 | COL4A5 | c.2636_2671del (p.Ser879_Gly890del) n.2092_2127del c.2312_2347del (p.Ser771_Gly782del) c.209_244del (p.Ser70_Gly81del) c.2651_2686del (p.Ser884_Gly895del) c.971_1006del (p.Ser324_Gly335del) | |
| X | g.108620409G>A | CA413851683 | COL4A5 | c.2660G>A (p.Gly887Asp) n.2116G>A c.2336G>A (p.Gly779Asp) c.233G>A (p.Gly78Asp) c.2675G>A (p.Gly892Asp) c.995G>A (p.Gly332Asp) | ClinVar dbSNP |
| X | g.108620409G>C | CA413851685 | COL4A5 | c.2660G>C (p.Gly887Ala) n.2116G>C c.2336G>C (p.Gly779Ala) c.233G>C (p.Gly78Ala) c.2675G>C (p.Gly892Ala) c.995G>C (p.Gly332Ala) | |
| X | g.108620409G= | CA2450695993 | COL4A5 | c.2660G= (p.Gly887=) n.2116G= c.2336G= (p.Gly779=) c.233G= (p.Gly78=) c.2675G= (p.Gly892=) c.995G= (p.Gly332=) | |
| X | g.108620409G>T | CA258734 | COL4A5 | c.2660G>T (p.Gly887Val) n.2116G>T c.2336G>T (p.Gly779Val) c.233G>T (p.Gly78Val) c.2675G>T (p.Gly892Val) c.995G>T (p.Gly332Val) | ClinVar dbSNP |
| X | g.108620410T>A | CA517924252 | COL4A5 | c.2661T>A (p.Gly887=) n.2117T>A c.2337T>A (p.Gly779=) c.234T>A (p.Gly78=) c.2676T>A (p.Gly892=) c.996T>A (p.Gly332=) | |
| X | g.108620410T>C | CA517924251 | COL4A5 | c.2661T>C (p.Gly887=) n.2117T>C c.2337T>C (p.Gly779=) c.234T>C (p.Gly78=) c.2676T>C (p.Gly892=) c.996T>C (p.Gly332=) | |
| X | g.108620410T>G | CA517924250 | COL4A5 | c.2661T>G (p.Gly887=) n.2117T>G c.2337T>G (p.Gly779=) c.234T>G (p.Gly78=) c.2676T>G (p.Gly892=) c.996T>G (p.Gly332=) | |
| X | g.108620411G>A | CA10488956 | COL4A5 | c.2662G>A (p.Ala888Thr) n.2118G>A c.2338G>A (p.Ala780Thr) c.235G>A (p.Ala79Thr) c.2677G>A (p.Ala893Thr) c.997G>A (p.Ala333Thr) | dbSNP ExAC gnomAD v2 |
| X | g.108620411G>C | CA413851689 | COL4A5 | c.2662G>C (p.Ala888Pro) n.2118G>C c.2338G>C (p.Ala780Pro) c.235G>C (p.Ala79Pro) c.2677G>C (p.Ala893Pro) c.997G>C (p.Ala333Pro) | |
| X | g.108620411G= | CA2450695994 | COL4A5 | c.2662G= (p.Ala888=) n.2118G= c.2338G= (p.Ala780=) c.235G= (p.Ala79=) c.2677G= (p.Ala893=) c.997G= (p.Ala333=) | |
| X | g.108620411G>T | CA413851691 | COL4A5 | c.2662G>T (p.Ala888Ser) n.2118G>T c.2338G>T (p.Ala780Ser) c.235G>T (p.Ala79Ser) c.2677G>T (p.Ala893Ser) c.997G>T (p.Ala333Ser) | gnomAD v4 |
| X | g.108620412C>A | CA413851693 | COL4A5 | c.2663C>A (p.Ala888Asp) n.2119C>A c.2339C>A (p.Ala780Asp) c.236C>A (p.Ala79Asp) c.2678C>A (p.Ala893Asp) c.998C>A (p.Ala333Asp) | |
| X | g.108620412C>G | CA413851695 | COL4A5 | c.2663C>G (p.Ala888Gly) n.2119C>G c.2339C>G (p.Ala780Gly) c.236C>G (p.Ala79Gly) c.2678C>G (p.Ala893Gly) c.998C>G (p.Ala333Gly) | |
| X | g.108620412C>T | CA413851696 | COL4A5 | c.2663C>T (p.Ala888Val) n.2119C>T c.2339C>T (p.Ala780Val) c.236C>T (p.Ala79Val) c.2678C>T (p.Ala893Val) c.998C>T (p.Ala333Val) | |
| X | g.108620413C>A | CA517924253 | COL4A5 | c.2664C>A (p.Ala888=) n.2120C>A c.2340C>A (p.Ala780=) c.237C>A (p.Ala79=) c.2679C>A (p.Ala893=) c.999C>A (p.Ala333=) | gnomAD v4 |
| X | g.108620413C>G | CA517924256 | COL4A5 | c.2664C>G (p.Ala888=) n.2120C>G c.2340C>G (p.Ala780=) c.237C>G (p.Ala79=) c.2679C>G (p.Ala893=) c.999C>G (p.Ala333=) | |
| X | g.108620413C>T | CA517924255 | COL4A5 | c.2664C>T (p.Ala888=) n.2120C>T c.2340C>T (p.Ala780=) c.237C>T (p.Ala79=) c.2679C>T (p.Ala893=) c.999C>T (p.Ala333=) | ClinVar gnomAD v4 |
| X | g.108620415_108620416del | CA2579676517 | COL4A5 | c.2666_2667del (p.Ser889TrpfsTer8) n.2122_2123del c.2342_2343del (p.Ser781TrpfsTer8) c.239_240del (p.Ser80TrpfsTer8) c.2681_2682del (p.Ser894TrpfsTer8) c.1001_1002del (p.Ser334TrpfsTer8) | |
| X | g.108620414T>A | CA413851702 | COL4A5 | c.2665T>A (p.Ser889Thr) n.2121T>A c.2341T>A (p.Ser781Thr) c.238T>A (p.Ser80Thr) c.2680T>A (p.Ser894Thr) c.1000T>A (p.Ser334Thr) | |
| X | g.108620414T>C | CA413851700 | COL4A5 | c.2665T>C (p.Ser889Pro) n.2121T>C c.2341T>C (p.Ser781Pro) c.238T>C (p.Ser80Pro) c.2680T>C (p.Ser894Pro) c.1000T>C (p.Ser334Pro) | COSMIC COSMIC |
| X | g.108620414T>G | CA413851698 | COL4A5 | c.2665T>G (p.Ser889Ala) n.2121T>G c.2341T>G (p.Ser781Ala) c.238T>G (p.Ser80Ala) c.2680T>G (p.Ser894Ala) c.1000T>G (p.Ser334Ala) | |
| X | g.108620415C>A | CA413851704 | COL4A5 | c.2666C>A (p.Ser889Tyr) n.2122C>A c.2342C>A (p.Ser781Tyr) c.239C>A (p.Ser80Tyr) c.2681C>A (p.Ser894Tyr) c.1001C>A (p.Ser334Tyr) | |
| X | g.108620415C= | CA2450695995 | COL4A5 | c.2666C= (p.Ser889=) n.2122C= c.2342C= (p.Ser781=) c.239C= (p.Ser80=) c.2681C= (p.Ser894=) c.1001C= (p.Ser334=) | |
| X | g.108620415C>G | CA10488957 | COL4A5 | c.2666C>G (p.Ser889Cys) n.2122C>G c.2342C>G (p.Ser781Cys) c.239C>G (p.Ser80Cys) c.2681C>G (p.Ser894Cys) c.1001C>G (p.Ser334Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108620415C>T | CA413851706 | COL4A5 | c.2666C>T (p.Ser889Phe) n.2122C>T c.2342C>T (p.Ser781Phe) c.239C>T (p.Ser80Phe) c.2681C>T (p.Ser894Phe) c.1001C>T (p.Ser334Phe) | |
| X | g.108620416T>A | CA517924259 | COL4A5 | c.2667T>A (p.Ser889=) n.2123T>A c.2343T>A (p.Ser781=) c.240T>A (p.Ser80=) c.2682T>A (p.Ser894=) c.1002T>A (p.Ser334=) | |
| X | g.108620416T>C | CA517924261 | COL4A5 | c.2667T>C (p.Ser889=) n.2123T>C c.2343T>C (p.Ser781=) c.240T>C (p.Ser80=) c.2682T>C (p.Ser894=) c.1002T>C (p.Ser334=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108620416T>G | CA517924262 | COL4A5 | c.2667T>G (p.Ser889=) n.2123T>G c.2343T>G (p.Ser781=) c.240T>G (p.Ser80=) c.2682T>G (p.Ser894=) c.1002T>G (p.Ser334=) | |
| X | g.108620416T= | CA2450695996 | COL4A5 | c.2667T= (p.Ser889=) n.2123T= c.2343T= (p.Ser781=) c.240T= (p.Ser80=) c.2682T= (p.Ser894=) c.1002T= (p.Ser334=) | |
| X | g.108620417G>A | CA413851709 | COL4A5 | c.2668G>A (p.Gly890Arg) n.2124G>A c.2344G>A (p.Gly782Arg) c.241G>A (p.Gly81Arg) c.2683G>A (p.Gly895Arg) c.1003G>A (p.Gly335Arg) | ClinVar dbSNP |
| X | g.108620417G>C | CA413851713 | COL4A5 | c.2668G>C (p.Gly890Arg) n.2124G>C c.2344G>C (p.Gly782Arg) c.241G>C (p.Gly81Arg) c.2683G>C (p.Gly895Arg) c.1003G>C (p.Gly335Arg) | |
| X | g.108620417G= | CA2450695997 | COL4A5 | c.2668G= (p.Gly890=) n.2124G= c.2344G= (p.Gly782=) c.241G= (p.Gly81=) c.2683G= (p.Gly895=) c.1003G= (p.Gly335=) | |
| X | g.108620417G>T | CA413851711 | COL4A5 | c.2668G>T (p.Gly890Ter) n.2124G>T c.2344G>T (p.Gly782Ter) c.241G>T (p.Gly81Ter) c.2683G>T (p.Gly895Ter) c.1003G>T (p.Gly335Ter) | ClinVar |
| X | g.108620418G>A | CA413851715 | COL4A5 | c.2669G>A (p.Gly890Glu) n.2125G>A c.2345G>A (p.Gly782Glu) c.242G>A (p.Gly81Glu) c.2684G>A (p.Gly895Glu) c.1004G>A (p.Gly335Glu) | |
| X | g.108620418G>C | CA413851717 | COL4A5 | c.2669G>C (p.Gly890Ala) n.2125G>C c.2345G>C (p.Gly782Ala) c.242G>C (p.Gly81Ala) c.2684G>C (p.Gly895Ala) c.1004G>C (p.Gly335Ala) | |
| X | g.108620418G>T | CA413851719 | COL4A5 | c.2669G>T (p.Gly890Val) n.2125G>T c.2345G>T (p.Gly782Val) c.242G>T (p.Gly81Val) c.2684G>T (p.Gly895Val) c.1004G>T (p.Gly335Val) | gnomAD v4 |
| X | g.108620419A>C | CA517924266 | COL4A5 | c.2670A>C (p.Gly890=) n.2126A>C c.2346A>C (p.Gly782=) c.243A>C (p.Gly81=) c.2685A>C (p.Gly895=) c.1005A>C (p.Gly335=) | |
| X | g.108620419A>G | CA517924267 | COL4A5 | c.2670A>G (p.Gly890=) n.2126A>G c.2346A>G (p.Gly782=) c.243A>G (p.Gly81=) c.2685A>G (p.Gly895=) c.1005A>G (p.Gly335=) | |
| X | g.108620419A>T | CA517924268 | COL4A5 | c.2670A>T (p.Gly890=) n.2126A>T c.2346A>T (p.Gly782=) c.243A>T (p.Gly81=) c.2685A>T (p.Gly895=) c.1005A>T (p.Gly335=) | |
| X | g.108620420T>A | CA413851722 | COL4A5 | c.2671T>A (p.Phe891Ile) n.2127T>A c.2347T>A (p.Phe783Ile) c.244T>A (p.Phe82Ile) c.2686T>A (p.Phe896Ile) c.1006T>A (p.Phe336Ile) | |
| X | g.108620420T>C | CA413851723 | COL4A5 | c.2671T>C (p.Phe891Leu) n.2127T>C c.2347T>C (p.Phe783Leu) c.244T>C (p.Phe82Leu) c.2686T>C (p.Phe896Leu) c.1006T>C (p.Phe336Leu) | |
| X | g.108620420T>G | CA413851725 | COL4A5 | c.2671T>G (p.Phe891Val) n.2127T>G c.2347T>G (p.Phe783Val) c.244T>G (p.Phe82Val) c.2686T>G (p.Phe896Val) c.1006T>G (p.Phe336Val) | |
| X | g.108620421T>A | CA413851728 | COL4A5 | c.2672T>A (p.Phe891Tyr) n.2128T>A c.2348T>A (p.Phe783Tyr) c.245T>A (p.Phe82Tyr) c.2687T>A (p.Phe896Tyr) c.1007T>A (p.Phe336Tyr) | |
| X | g.108620421T>C | CA413851730 | COL4A5 | c.2672T>C (p.Phe891Ser) n.2128T>C c.2348T>C (p.Phe783Ser) c.245T>C (p.Phe82Ser) c.2687T>C (p.Phe896Ser) c.1007T>C (p.Phe336Ser) | |
| X | g.108620421T>G | CA413851731 | COL4A5 | c.2672T>G (p.Phe891Cys) n.2128T>G c.2348T>G (p.Phe783Cys) c.245T>G (p.Phe82Cys) c.2687T>G (p.Phe896Cys) c.1007T>G (p.Phe336Cys) | |
| X | g.108620422T>A | CA413851734 | COL4A5 | c.2673T>A (p.Phe891Leu) n.2129T>A c.2349T>A (p.Phe783Leu) c.246T>A (p.Phe82Leu) c.2688T>A (p.Phe896Leu) c.1008T>A (p.Phe336Leu) | |
| X | g.108620422T>C | CA517924273 | COL4A5 | c.2673T>C (p.Phe891=) n.2129T>C c.2349T>C (p.Phe783=) c.246T>C (p.Phe82=) c.2688T>C (p.Phe896=) c.1008T>C (p.Phe336=) | |
| X | g.108620422T>G | CA413851735 | COL4A5 | c.2673T>G (p.Phe891Leu) n.2129T>G c.2349T>G (p.Phe783Leu) c.246T>G (p.Phe82Leu) c.2688T>G (p.Phe896Leu) c.1008T>G (p.Phe336Leu) |