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 |
|---|---|---|---|---|---|
| 22 | g.42693139_42693145del | CA2657079351 | A4GALT,CYB5R3 | c.-49+27653_-49+27659del (n.-49+27653_-49+27659del) c.808_814del (p.Ser270ProfsTer?) | gnomAD v4 |
| 22 | g.42693144T>A | CA411810725 | A4GALT,CYB5R3 | c.-49+27653A>T (n.-49+27653A>T) c.808A>T (p.Ser270Cys) | |
| 22 | g.42693144T>C | CA411810727 | A4GALT,CYB5R3 | c.-49+27653A>G (n.-49+27653A>G) c.808A>G (p.Ser270Gly) | |
| 22 | g.42693144T>G | CA411810728 | A4GALT,CYB5R3 | c.-49+27653A>C (n.-49+27653A>C) c.808A>C (p.Ser270Arg) | |
| 22 | g.42693145C>A | CA411810730 | A4GALT,CYB5R3 | c.-49+27652G>T (n.-49+27652G>T) c.807G>T (p.Glu269Asp) | |
| 22 | g.42693145C>G | CA411810732 | A4GALT,CYB5R3 | c.-49+27652G>C (n.-49+27652G>C) c.807G>C (p.Glu269Asp) | |
| 22 | g.42693145C>T | CA515072169 | A4GALT,CYB5R3 | c.-49+27652G>A (n.-49+27652G>A) c.807G>A (p.Glu269=) | |
| 22 | g.42693146T>A | CA411810737 | A4GALT,CYB5R3 | c.-49+27651A>T (n.-49+27651A>T) c.806A>T (p.Glu269Val) | |
| 22 | g.42693146T>C | CA411810739 | A4GALT,CYB5R3 | c.-49+27651A>G (n.-49+27651A>G) c.806A>G (p.Glu269Gly) | |
| 22 | g.42693146T>G | CA411810735 | A4GALT,CYB5R3 | c.-49+27651A>C (n.-49+27651A>C) c.806A>C (p.Glu269Ala) | |
| 22 | g.42693147del | CA2561673320 | A4GALT,CYB5R3 | c.-49+27650del (n.-49+27650del) c.805del (p.Glu269ArgfsTer?) | |
| 22 | g.42693147C>A | CA411810741 | A4GALT,CYB5R3 | c.-49+27650G>T (n.-49+27650G>T) c.805G>T (p.Glu269Ter) | |
| 22 | g.42693147C= | CA2406870142 | A4GALT,CYB5R3 | c.-49+27650G= (n.-49+27650G=) c.805G= (p.Glu269=) | |
| 22 | g.42693147C>G | CA411810743 | A4GALT,CYB5R3 | c.-49+27650G>C (n.-49+27650G>C) c.805G>C (p.Glu269Gln) | |
| 22 | g.42693147C>T | CA10270208 | A4GALT,CYB5R3 | c.-49+27650G>A (n.-49+27650G>A) c.805G>A (p.Glu269Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693148G>A | CA515072177 | A4GALT,CYB5R3 | c.-49+27649C>T (n.-49+27649C>T) c.804C>T (p.Ala268=) | gnomAD v4 |
| 22 | g.42693148G>C | CA324732181 | A4GALT,CYB5R3 | c.-49+27649C>G (n.-49+27649C>G) c.804C>G (p.Ala268=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693148G= | CA2406870143 | A4GALT,CYB5R3 | c.-49+27649C= (n.-49+27649C=) c.804C= (p.Ala268=) | |
| 22 | g.42693148G>T | CA515072180 | A4GALT,CYB5R3 | c.-49+27649C>A (n.-49+27649C>A) c.804C>A (p.Ala268=) | |
| 22 | g.42693149G>A | CA411810746 | A4GALT,CYB5R3 | c.-49+27648C>T (n.-49+27648C>T) c.803C>T (p.Ala268Val) | |
| 22 | g.42693149G>C | CA411810748 | A4GALT,CYB5R3 | c.-49+27648C>G (n.-49+27648C>G) c.803C>G (p.Ala268Gly) | gnomAD v4 |
| 22 | g.42693149G>T | CA411810750 | A4GALT,CYB5R3 | c.-49+27648C>A (n.-49+27648C>A) c.803C>A (p.Ala268Asp) | |
| 22 | g.42693150C>A | CA411810751 | A4GALT,CYB5R3 | c.-49+27647G>T (n.-49+27647G>T) c.802G>T (p.Ala268Ser) | |
| 22 | g.42693150C>G | CA411810753 | A4GALT,CYB5R3 | c.-49+27647G>C (n.-49+27647G>C) c.802G>C (p.Ala268Pro) | |
| 22 | g.42693150C>T | CA411810755 | A4GALT,CYB5R3 | c.-49+27647G>A (n.-49+27647G>A) c.802G>A (p.Ala268Thr) | |
| 22 | g.42693150_42693151insG | CA2567588268 | A4GALT,CYB5R3 | c.-49+27646_-49+27647insC (n.-49+27646_-49+27647insC) c.801_802insC (p.Ala268ArgfsTer15) | |
| 22 | g.42693151C>A | CA515072194 | A4GALT,CYB5R3 | c.-49+27646G>T (n.-49+27646G>T) c.801G>T (p.Leu267=) | |
| 22 | g.42693151C>G | CA515072195 | A4GALT,CYB5R3 | c.-49+27646G>C (n.-49+27646G>C) c.801G>C (p.Leu267=) | gnomAD v4 |
| 22 | g.42693151C>T | CA515072197 | A4GALT,CYB5R3 | c.-49+27646G>A (n.-49+27646G>A) c.801G>A (p.Leu267=) | |
| 22 | g.42693152A>C | CA411810757 | A4GALT,CYB5R3 | c.-49+27645T>G (n.-49+27645T>G) c.800T>G (p.Leu267Arg) | |
| 22 | g.42693152A>G | CA411810759 | A4GALT,CYB5R3 | c.-49+27645T>C (n.-49+27645T>C) c.800T>C (p.Leu267Pro) | gnomAD v4 |
| 22 | g.42693152A>T | CA411810761 | A4GALT,CYB5R3 | c.-49+27645T>A (n.-49+27645T>A) c.800T>A (p.Leu267Gln) | gnomAD v4 |
| 22 | g.42693152_42693162delinsAGGCTGCGGAT | CA2406870144 | A4GALT,CYB5R3 | c.-49+27635_-49+27645delinsATCCGCAGCCT (n.-49+27635_-49+27645delinsATCCGCAGCCT) c.790_800delinsATCCGCAGCCT (p.Ile264=) | |
| 22 | g.42693153G>A | CA515072205 | A4GALT,CYB5R3 | c.-49+27644C>T (n.-49+27644C>T) c.799C>T (p.Leu267=) | dbSNP gnomAD v2 |
| 22 | g.42693153G>C | CA411810762 | A4GALT,CYB5R3 | c.-49+27644C>G (n.-49+27644C>G) c.799C>G (p.Leu267Val) | |
| 22 | g.42693153G= | CA2406870145 | A4GALT,CYB5R3 | c.-49+27644C= (n.-49+27644C=) c.799C= (p.Leu267=) | |
| 22 | g.42693153G>T | CA411810764 | A4GALT,CYB5R3 | c.-49+27644C>A (n.-49+27644C>A) c.799C>A (p.Leu267Met) | |
| 22 | g.42693155_42693164del | CA753383075 | A4GALT,CYB5R3 | c.-49+27635_-49+27644del (n.-49+27635_-49+27644del) c.790_799del (p.Ile264TrpfsTer?) | dbSNP |
| 22 | g.42693154G>A | CA515072209 | A4GALT,CYB5R3 | c.-49+27643C>T (n.-49+27643C>T) c.798C>T (p.Ser266=) | |
| 22 | g.42693154G>C | CA10270209 | A4GALT,CYB5R3 | c.-49+27643C>G (n.-49+27643C>G) c.798C>G (p.Ser266Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693154G= | CA2406870146 | A4GALT,CYB5R3 | c.-49+27643C= (n.-49+27643C=) c.798C= (p.Ser266=) | |
| 22 | g.42693154G>T | CA411810767 | A4GALT,CYB5R3 | c.-49+27643C>A (n.-49+27643C>A) c.798C>A (p.Ser266Arg) | dbSNP gnomAD v4 |
| 22 | g.42693155C>A | CA411810769 | A4GALT,CYB5R3 | c.-49+27642G>T (n.-49+27642G>T) c.797G>T (p.Ser266Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693155C= | CA2406870147 | A4GALT,CYB5R3 | c.-49+27642G= (n.-49+27642G=) c.797G= (p.Ser266=) | |
| 22 | g.42693155C>G | CA411810770 | A4GALT,CYB5R3 | c.-49+27642G>C (n.-49+27642G>C) c.797G>C (p.Ser266Thr) | |
| 22 | g.42693155C>T | CA411810771 | A4GALT,CYB5R3 | c.-49+27642G>A (n.-49+27642G>A) c.797G>A (p.Ser266Asn) | |
| 22 | g.42693156T>A | CA411810773 | A4GALT,CYB5R3 | c.-49+27641A>T (n.-49+27641A>T) c.796A>T (p.Ser266Cys) | |
| 22 | g.42693156T>C | CA411810775 | A4GALT,CYB5R3 | c.-49+27641A>G (n.-49+27641A>G) c.796A>G (p.Ser266Gly) | |
| 22 | g.42693156T>G | CA411810777 | A4GALT,CYB5R3 | c.-49+27641A>C (n.-49+27641A>C) c.796A>C (p.Ser266Arg) | |
| 22 | g.42693157G>A | CA10270210 | A4GALT,CYB5R3 | c.-49+27640C>T (n.-49+27640C>T) c.795C>T (p.Arg265=) | dbSNP ExAC gnomAD v2 gnomAD v4 |