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.42693201_42693221del | CA2695230996 | A4GALT,CYB5R3 | c.-49+27576_-49+27596del (n.-49+27576_-49+27596del) c.731_751del (p.Trp244_Pro251delinsSer) | |
| 22 | g.42693205C>A | CA411811443 | A4GALT,CYB5R3 | c.-49+27592G>T (n.-49+27592G>T) c.747G>T (p.Gln249His) | |
| 22 | g.42693205C= | CA2406870173 | A4GALT,CYB5R3 | c.-49+27592G= (n.-49+27592G=) c.747G= (p.Gln249=) | |
| 22 | g.42693205C>G | CA411811444 | A4GALT,CYB5R3 | c.-49+27592G>C (n.-49+27592G>C) c.747G>C (p.Gln249His) | |
| 22 | g.42693205C>T | CA324732211 | A4GALT,CYB5R3 | c.-49+27592G>A (n.-49+27592G>A) c.747G>A (p.Gln249=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693206T>A | CA411811445 | A4GALT,CYB5R3 | c.-49+27591A>T (n.-49+27591A>T) c.746A>T (p.Gln249Leu) | |
| 22 | g.42693206T>C | CA411811446 | A4GALT,CYB5R3 | c.-49+27591A>G (n.-49+27591A>G) c.746A>G (p.Gln249Arg) | |
| 22 | g.42693206T>G | CA411811447 | A4GALT,CYB5R3 | c.-49+27591A>C (n.-49+27591A>C) c.746A>C (p.Gln249Pro) | gnomAD v4 |
| 22 | g.42693206_42693207delinsTG | CA2406870174 | A4GALT,CYB5R3 | c.-49+27590_-49+27591delinsCA (n.-49+27590_-49+27591delinsCA) c.745_746delinsCA (p.Gln249=) | |
| 22 | g.42693207G>A | CA411811450 | A4GALT,CYB5R3 | c.-49+27590C>T (n.-49+27590C>T) c.745C>T (p.Gln249Ter) | gnomAD v4 |
| 22 | g.42693207G>C | CA411811448 | A4GALT,CYB5R3 | c.-49+27590C>G (n.-49+27590C>G) c.745C>G (p.Gln249Glu) | |
| 22 | g.42693207G>T | CA411811449 | A4GALT,CYB5R3 | c.-49+27590C>A (n.-49+27590C>A) c.745C>A (p.Gln249Lys) | |
| 22 | g.42693208del | CA639829271 | A4GALT,CYB5R3 | c.-49+27590del (n.-49+27590del) c.745del (p.Gln249ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693208G>A | CA515070792 | A4GALT,CYB5R3 | c.-49+27589C>T (n.-49+27589C>T) c.744C>T (p.His248=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693208G>C | CA411811451 | A4GALT,CYB5R3 | c.-49+27589C>G (n.-49+27589C>G) c.744C>G (p.His248Gln) | |
| 22 | g.42693208G= | CA2406870175 | A4GALT,CYB5R3 | c.-49+27589C= (n.-49+27589C=) c.744C= (p.His248=) | |
| 22 | g.42693208G>T | CA411811452 | A4GALT,CYB5R3 | c.-49+27589C>A (n.-49+27589C>A) c.744C>A (p.His248Gln) | |
| 22 | g.42693209T>A | CA411811453 | A4GALT,CYB5R3 | c.-49+27588A>T (n.-49+27588A>T) c.743A>T (p.His248Leu) | |
| 22 | g.42693209T>C | CA411811454 | A4GALT,CYB5R3 | c.-49+27588A>G (n.-49+27588A>G) c.743A>G (p.His248Arg) | |
| 22 | g.42693209T>G | CA411811455 | A4GALT,CYB5R3 | c.-49+27588A>C (n.-49+27588A>C) c.743A>C (p.His248Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693209T= | CA2406870176 | A4GALT,CYB5R3 | c.-49+27588A= (n.-49+27588A=) c.743A= (p.His248=) | |
| 22 | g.42693210G>A | CA411811456 | A4GALT,CYB5R3 | c.-49+27587C>T (n.-49+27587C>T) c.742C>T (p.His248Tyr) | |
| 22 | g.42693210G>C | CA324732213 | A4GALT,CYB5R3 | c.-49+27587C>G (n.-49+27587C>G) c.742C>G (p.His248Asp) | dbSNP |
| 22 | g.42693210G= | CA2406870177 | A4GALT,CYB5R3 | c.-49+27587C= (n.-49+27587C=) c.742C= (p.His248=) | |
| 22 | g.42693210G>T | CA411811457 | A4GALT,CYB5R3 | c.-49+27587C>A (n.-49+27587C>A) c.742C>A (p.His248Asn) | |
| 22 | g.42693211A= | CA2406870178 | A4GALT,CYB5R3 | c.-49+27586T= (n.-49+27586T=) c.741T= (p.Gly247=) | |
| 22 | g.42693211A>C | CA515070801 | A4GALT,CYB5R3 | c.-49+27586T>G (n.-49+27586T>G) c.741T>G (p.Gly247=) | |
| 22 | g.42693211A>G | CA324732215 | A4GALT,CYB5R3 | c.-49+27586T>C (n.-49+27586T>C) c.741T>C (p.Gly247=) | dbSNP gnomAD v4 |
| 22 | g.42693211A>T | CA515070805 | A4GALT,CYB5R3 | c.-49+27586T>A (n.-49+27586T>A) c.741T>A (p.Gly247=) | |
| 22 | g.42693212C>A | CA411811458 | A4GALT,CYB5R3 | c.-49+27585G>T (n.-49+27585G>T) c.740G>T (p.Gly247Val) | |
| 22 | g.42693212C= | CA2406870179 | A4GALT,CYB5R3 | c.-49+27585G= (n.-49+27585G=) c.740G= (p.Gly247=) | |
| 22 | g.42693212C>G | CA411811459 | A4GALT,CYB5R3 | c.-49+27585G>C (n.-49+27585G>C) c.740G>C (p.Gly247Ala) | |
| 22 | g.42693212C>T | CA411811460 | A4GALT,CYB5R3 | c.-49+27585G>A (n.-49+27585G>A) c.740G>A (p.Gly247Asp) | dbSNP |
| 22 | g.42693213C>A | CA411811461 | A4GALT,CYB5R3 | c.-49+27584G>T (n.-49+27584G>T) c.739G>T (p.Gly247Cys) | gnomAD v4 |
| 22 | g.42693213C>G | CA411811463 | A4GALT,CYB5R3 | c.-49+27584G>C (n.-49+27584G>C) c.739G>C (p.Gly247Arg) | |
| 22 | g.42693213C>T | CA411811462 | A4GALT,CYB5R3 | c.-49+27584G>A (n.-49+27584G>A) c.739G>A (p.Gly247Ser) | COSMIC |
| 22 | g.42693214C>A | CA411811464 | A4GALT,CYB5R3 | c.-49+27583G>T (n.-49+27583G>T) c.738G>T (p.Trp246Cys) | gnomAD v4 |
| 22 | g.42693214C= | CA2406870180 | A4GALT,CYB5R3 | c.-49+27583G= (n.-49+27583G=) c.738G= (p.Trp246=) | |
| 22 | g.42693214C>G | CA411811465 | A4GALT,CYB5R3 | c.-49+27583G>C (n.-49+27583G>C) c.738G>C (p.Trp246Cys) | dbSNP gnomAD v4 |
| 22 | g.42693214C>T | CA411811466 | A4GALT,CYB5R3 | c.-49+27583G>A (n.-49+27583G>A) c.738G>A (p.Trp246Ter) | gnomAD v4 |
| 22 | g.42693215C>A | CA411811467 | A4GALT,CYB5R3 | c.-49+27582G>T (n.-49+27582G>T) c.737G>T (p.Trp246Leu) | |
| 22 | g.42693215C>G | CA411811468 | A4GALT,CYB5R3 | c.-49+27582G>C (n.-49+27582G>C) c.737G>C (p.Trp246Ser) | gnomAD v4 |
| 22 | g.42693215C>T | CA411811469 | A4GALT,CYB5R3 | c.-49+27582G>A (n.-49+27582G>A) c.737G>A (p.Trp246Ter) | |
| 22 | g.42693216A>C | CA411811470 | A4GALT,CYB5R3 | c.-49+27581T>G (n.-49+27581T>G) c.736T>G (p.Trp246Gly) | |
| 22 | g.42693216A>G | CA411811471 | A4GALT,CYB5R3 | c.-49+27581T>C (n.-49+27581T>C) c.736T>C (p.Trp246Arg) | |
| 22 | g.42693216A>T | CA411811472 | A4GALT,CYB5R3 | c.-49+27581T>A (n.-49+27581T>A) c.736T>A (p.Trp246Arg) | COSMIC |
| 22 | g.42693217G>A | CA10270227 | A4GALT,CYB5R3 | c.-49+27580C>T (n.-49+27580C>T) c.735C>T (p.Ile245=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693217G>C | CA324732219 | A4GALT,CYB5R3 | c.-49+27580C>G (n.-49+27580C>G) c.735C>G (p.Ile245Met) | dbSNP |
| 22 | g.42693217G= | CA2406870181 | A4GALT,CYB5R3 | c.-49+27580C= (n.-49+27580C=) c.735C= (p.Ile245=) | |
| 22 | g.42693217G>T | CA515070818 | A4GALT,CYB5R3 | c.-49+27580C>A (n.-49+27580C>A) c.735C>A (p.Ile245=) | gnomAD v4 |