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 |
|---|---|---|---|---|---|
| 7 | g.27095405T>A | CA367068413 | HOXA1 | c.508A>T (p.Ser170Cys) c.355-50A>T (n.355-50A>T) | |
| 7 | g.27095405T>C | CA367068414 | HOXA1 | c.508A>G (p.Ser170Gly) c.355-50A>G (n.355-50A>G) | gnomAD v4 |
| 7 | g.27095405T>G | CA367068415 | HOXA1 | c.508A>C (p.Ser170Arg) c.355-50A>C (n.355-50A>C) | |
| 7 | g.27095406C>A | CA367068416 | HOXA1 | c.507G>T (p.Gln169His) c.355-51G>T (n.355-51G>T) | |
| 7 | g.27095406C>G | CA367068417 | HOXA1 | c.507G>C (p.Gln169His) c.355-51G>C (n.355-51G>C) | |
| 7 | g.27095406C>T | CA454507605 | HOXA1 | c.507G>A (p.Gln169=) c.355-51G>A (n.355-51G>A) | |
| 7 | g.27095407T>A | CA367068418 | HOXA1 | c.506A>T (p.Gln169Leu) c.355-52A>T (n.355-52A>T) | |
| 7 | g.27095407T>C | CA367068419 | HOXA1 | c.506A>G (p.Gln169Arg) c.355-52A>G (n.355-52A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.27095407T>G | CA367068420 | HOXA1 | c.506A>C (p.Gln169Pro) c.355-52A>C (n.355-52A>C) | |
| 7 | g.27095407T= | CA1696186865 | HOXA1 | c.506A= (p.Gln169=) c.355-52A= (n.355-52A=) | |
| 7 | g.27095408G>A | CA367068421 | HOXA1 | c.505C>T (p.Gln169Ter) c.355-53C>T (n.355-53C>T) | COSMIC |
| 7 | g.27095408G>C | CA367068422 | HOXA1 | c.505C>G (p.Gln169Glu) c.355-53C>G (n.355-53C>G) | |
| 7 | g.27095408G>T | CA367068423 | HOXA1 | c.505C>A (p.Gln169Lys) c.355-53C>A (n.355-53C>A) | gnomAD v4 |
| 7 | g.27095409G>A | CA454507643 | HOXA1 | c.504C>T (p.His168=) c.355-54C>T (n.355-54C>T) | |
| 7 | g.27095409G>C | CA367068424 | HOXA1 | c.504C>G (p.His168Gln) c.355-54C>G (n.355-54C>G) | gnomAD v4 |
| 7 | g.27095409G>T | CA367068425 | HOXA1 | c.504C>A (p.His168Gln) c.355-54C>A (n.355-54C>A) | |
| 7 | g.27095410T>A | CA367068426 | HOXA1 | c.503A>T (p.His168Leu) c.355-55A>T (n.355-55A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.27095410T>C | CA367068428 | HOXA1 | c.503A>G (p.His168Arg) c.355-55A>G (n.355-55A>G) | dbSNP |
| 7 | g.27095410T>G | CA367068427 | HOXA1 | c.503A>C (p.His168Pro) c.355-55A>C (n.355-55A>C) | |
| 7 | g.27095410T= | CA1696186867 | HOXA1 | c.503A= (p.His168=) c.355-55A= (n.355-55A=) | |
| 7 | g.27095411G>A | CA367068429 | HOXA1 | c.502C>T (p.His168Tyr) c.355-56C>T (n.355-56C>T) | |
| 7 | g.27095411G>C | CA367068430 | HOXA1 | c.502C>G (p.His168Asp) c.355-56C>G (n.355-56C>G) | |
| 7 | g.27095411G>T | CA367068431 | HOXA1 | c.502C>A (p.His168Asn) c.355-56C>A (n.355-56C>A) | |
| 7 | g.27095412C>A | CA367068432 | HOXA1 | c.501G>T (p.Glu167Asp) c.355-57G>T (n.355-57G>T) | |
| 7 | g.27095412C>G | CA367068433 | HOXA1 | c.501G>C (p.Glu167Asp) c.355-57G>C (n.355-57G>C) | |
| 7 | g.27095412C>T | CA454507644 | HOXA1 | c.501G>A (p.Glu167=) c.355-57G>A (n.355-57G>A) | gnomAD v4 |
| 7 | g.27095413T>A | CA367068434 | HOXA1 | c.500A>T (p.Glu167Val) c.355-58A>T (n.355-58A>T) | |
| 7 | g.27095413T>C | CA367068435 | HOXA1 | c.500A>G (p.Glu167Gly) c.355-58A>G (n.355-58A>G) | |
| 7 | g.27095413T>G | CA367068436 | HOXA1 | c.500A>C (p.Glu167Ala) c.355-58A>C (n.355-58A>C) | |
| 7 | g.27095414C>A | CA367068437 | HOXA1 | c.499G>T (p.Glu167Ter) c.355-59G>T (n.355-59G>T) | |
| 7 | g.27095414C= | CA1696186869 | HOXA1 | c.499G= (p.Glu167=) c.355-59G= (n.355-59G=) | |
| 7 | g.27095414C>G | CA367068438 | HOXA1 | c.499G>C (p.Glu167Gln) c.355-59G>C (n.355-59G>C) | |
| 7 | g.27095414C>T | CA4195927 | HOXA1 | c.499G>A (p.Glu167Lys) c.355-59G>A (n.355-59G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095415C>A | CA367068439 | HOXA1 | c.498G>T (p.Gln166His) c.355-60G>T (n.355-60G>T) | |
| 7 | g.27095415C>G | CA367068440 | HOXA1 | c.498G>C (p.Gln166His) c.355-60G>C (n.355-60G>C) | |
| 7 | g.27095415C>T | CA454507645 | HOXA1 | c.498G>A (p.Gln166=) c.355-60G>A (n.355-60G>A) | |
| 7 | g.27095416T>A | CA367068441 | HOXA1 | c.497A>T (p.Gln166Leu) c.355-61A>T (n.355-61A>T) | |
| 7 | g.27095416T>C | CA367068442 | HOXA1 | c.497A>G (p.Gln166Arg) c.355-61A>G (n.355-61A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.27095416T>G | CA367068443 | HOXA1 | c.497A>C (p.Gln166Pro) c.355-61A>C (n.355-61A>C) | |
| 7 | g.27095416T= | CA1696186870 | HOXA1 | c.497A= (p.Gln166=) c.355-61A= (n.355-61A=) | |
| 7 | g.27095417G>A | CA367068444 | HOXA1 | c.496C>T (p.Gln166Ter) c.355-62C>T (n.355-62C>T) | |
| 7 | g.27095417G>C | CA367068445 | HOXA1 | c.496C>G (p.Gln166Glu) c.355-62C>G (n.355-62C>G) | |
| 7 | g.27095417G>T | CA367068446 | HOXA1 | c.496C>A (p.Gln166Lys) c.355-62C>A (n.355-62C>A) | |
| 7 | g.27095418T>A | CA454507646 | HOXA1 | c.495A>T (p.Gly165=) c.355-63A>T (n.355-63A>T) | |
| 7 | g.27095418T>C | CA454507647 | HOXA1 | c.495A>G (p.Gly165=) c.355-63A>G (n.355-63A>G) | |
| 7 | g.27095418T>G | CA454507648 | HOXA1 | c.495A>C (p.Gly165=) c.355-63A>C (n.355-63A>C) | |
| 7 | g.27095418_27095419delinsTC | CA1696186872 | HOXA1 | c.494_495delinsGA (p.Gly165=) c.355-64_355-63delinsGA (n.355-64_355-63delinsGA) | |
| 7 | g.27095419C>A | CA367068449 | HOXA1 | c.494G>T (p.Gly165Val) c.355-64G>T (n.355-64G>T) | |
| 7 | g.27095419C>G | CA367068447 | HOXA1 | c.494G>C (p.Gly165Ala) c.355-64G>C (n.355-64G>C) | COSMIC |
| 7 | g.27095419C>T | CA367068448 | HOXA1 | c.494G>A (p.Gly165Glu) c.355-64G>A (n.355-64G>A) |