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 |
|---|---|---|---|---|---|
| 12 | g.91107174_91107191dup | CA950428933 | LUM | c.862+942_862+959dup (n.862+942_862+959dup) n.612+942_612+959dup n.255+942_255+959dup | gnomAD v3 gnomAD v4 |
| 12 | g.91107174_91107191del | CA950428935 | LUM | c.862+942_862+959del (n.862+942_862+959del) n.612+942_612+959del n.255+942_255+959del | gnomAD v3 gnomAD v4 |
| 12 | g.91107176_91107332delinsCGAAAGAAAGAAAGAAGGAAAGAAAAAGAAAGAAAGAAAGAGAGAAAGAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA | CA2054318094 | LUM | c.862+786_862+942delinsTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTTTCTTTCTTTCTTTTTCTTTCCTTCTTTCTTTCTTTCG (n.862+786_862+942delinsTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTTTCTTTCTTTCTTTTTCTTTCCTTCTTTCTTTCTTTCG) n.612+786_612+942delinsTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTTTCTTTCTTTCTTTTTCTTTCCTTCTTTCTTTCTTTCG n.255+786_255+942delinsTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTTTCTTTCTTTCTTTTTCTTTCCTTCTTTCTTTCTTTCG | |
| 12 | g.91107188_91107191del | CA2054318097 | LUM | c.862+938_862+941del (n.862+938_862+941del) n.612+938_612+941del n.255+938_255+941del | dbSNP |
| 12 | g.91107190_91107345del | CA950428977 | LUM | c.862+786_862+941del (n.862+786_862+941del) n.612+786_612+941del n.255+786_255+941del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107179_91107181delinsAAG | CA2054318100 | LUM | c.862+937_862+939delinsCTT (n.862+937_862+939delinsCTT) n.612+937_612+939delinsCTT n.255+937_255+939delinsCTT | |
| 12 | g.91107180_91107181delinsAG | CA2054318101 | LUM | c.862+937_862+938delinsCT (n.862+937_862+938delinsCT) n.612+937_612+938delinsCT n.255+937_255+938delinsCT | |
| 12 | g.91107181_91107182del | CA950428987 | LUM | c.862+937_862+938del (n.862+937_862+938del) n.612+937_612+938del n.255+937_255+938del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107181del | CA950428994 | LUM | c.862+937del (n.862+937del) n.612+937del n.255+937del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107181G>A | CA606703595 | LUM | c.862+937C>T (n.862+937C>T) n.612+937C>T n.255+937C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107181G= | CA2054318103 | LUM | c.862+937C= (n.862+937C=) n.612+937C= n.255+937C= | |
| 12 | g.91107181_91107199delinsGAAAGAAAGAAGGAAAGAA | CA2054318104 | LUM | c.862+919_862+937delinsTTCTTTCCTTCTTTCTTTC (n.862+919_862+937delinsTTCTTTCCTTCTTTCTTTC) n.612+919_612+937delinsTTCTTTCCTTCTTTCTTTC n.255+919_255+937delinsTTCTTTCCTTCTTTCTTTC | |
| 12 | g.91107182A= | CA2054318106 | LUM | c.862+936T= (n.862+936T=) n.612+936T= n.255+936T= | |
| 12 | g.91107182A>G | CA693363469 | LUM | c.862+936T>C (n.862+936T>C) n.612+936T>C n.255+936T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107192_91107209del | CA2054318105 | LUM | c.862+919_862+936del (n.862+919_862+936del) n.612+919_612+936del n.255+919_255+936del | dbSNP |
| 12 | g.91107183A>G | CA950429008 | LUM | c.862+935T>C (n.862+935T>C) n.612+935T>C n.255+935T>C | gnomAD v3 gnomAD v4 |
| 12 | g.91107183_91107185delinsAAG | CA2054318108 | LUM | c.862+933_862+935delinsCTT (n.862+933_862+935delinsCTT) n.612+933_612+935delinsCTT n.255+933_255+935delinsCTT | |
| 12 | g.91107183_91107193delinsAAGAAAGAAGG | CA2054318107 | LUM | c.862+925_862+935delinsCCTTCTTTCTT (n.862+925_862+935delinsCCTTCTTTCTT) n.612+925_612+935delinsCCTTCTTTCTT n.255+925_255+935delinsCCTTCTTTCTT | |
| 12 | g.91107184A>G | CA950429009 | LUM | c.862+934T>C (n.862+934T>C) n.612+934T>C n.255+934T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107185_91107186del | CA2054318111 | LUM | c.862+933_862+934del (n.862+933_862+934del) n.612+933_612+934del n.255+933_255+934del | dbSNP |
| 12 | g.91107184_91107192delinsAGAAAGAAG | CA2054318110 | LUM | c.862+926_862+934delinsCTTCTTTCT (n.862+926_862+934delinsCTTCTTTCT) n.612+926_612+934delinsCTTCTTTCT n.255+926_255+934delinsCTTCTTTCT | |
| 12 | g.91107185_91107194del | CA2054318109 | LUM | c.862+925_862+934del (n.862+925_862+934del) n.612+925_612+934del n.255+925_255+934del | dbSNP |
| 12 | g.91107185G>A | CA950429018 | LUM | c.862+933C>T (n.862+933C>T) n.612+933C>T n.255+933C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107185G= | CA2054318113 | LUM | c.862+933C= (n.862+933C=) n.612+933C= n.255+933C= | |
| 12 | g.91107185G>T | CA606703596 | LUM | c.862+933C>A (n.862+933C>A) n.612+933C>A n.255+933C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107187_91107188insGGAA | CA950429010 | LUM | c.862+933_862+934insCTTC (n.862+933_862+934insCTTC) n.612+933_612+934insCTTC n.255+933_255+934insCTTC | gnomAD v3 gnomAD v4 |
| 12 | g.91107185_91107199delinsGAAAGAAGGAAAGAA | CA2054318114 | LUM | c.862+919_862+933delinsTTCTTTCCTTCTTTC (n.862+919_862+933delinsTTCTTTCCTTCTTTC) n.612+919_612+933delinsTTCTTTCCTTCTTTC n.255+919_255+933delinsTTCTTTCCTTCTTTC | |
| 12 | g.91107192_91107199del | CA2054318112 | LUM | c.862+926_862+933del (n.862+926_862+933del) n.612+926_612+933del n.255+926_255+933del | dbSNP |
| 12 | g.91107192_91107205del | CA2054318115 | LUM | c.862+919_862+932del (n.862+919_862+932del) n.612+919_612+932del n.255+919_255+932del | dbSNP |
| 12 | g.91107187A= | CA2054318116 | LUM | c.862+931T= (n.862+931T=) n.612+931T= n.255+931T= | |
| 12 | g.91107187A>T | CA950429022 | LUM | c.862+931T>A (n.862+931T>A) n.612+931T>A n.255+931T>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107187_91107189delinsAAG | CA2054318117 | LUM | c.862+929_862+931delinsCTT (n.862+929_862+931delinsCTT) n.612+929_612+931delinsCTT n.255+929_255+931delinsCTT | |
| 12 | g.91107188A= | CA2054318119 | LUM | c.862+930T= (n.862+930T=) n.612+930T= n.255+930T= | |
| 12 | g.91107188A>G | CA606703597 | LUM | c.862+930T>C (n.862+930T>C) n.612+930T>C n.255+930T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107189_91107190del | CA2054318120 | LUM | c.862+929_862+930del (n.862+929_862+930del) n.612+929_612+930del n.255+929_255+930del | dbSNP |
| 12 | g.91107188_91107192delinsAGAAG | CA2054318118 | LUM | c.862+926_862+930delinsCTTCT (n.862+926_862+930delinsCTTCT) n.612+926_612+930delinsCTTCT n.255+926_255+930delinsCTTCT | |
| 12 | g.91107189del | CA950429027 | LUM | c.862+929del (n.862+929del) n.612+929del n.255+929del | |
| 12 | g.91107189G>C | CA241230149 | LUM | c.862+929C>G (n.862+929C>G) n.612+929C>G n.255+929C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107189G= | CA2054318122 | LUM | c.862+929C= (n.862+929C=) n.612+929C= n.255+929C= | |
| 12 | g.91107189_91107191delinsGAA | CA2054318124 | LUM | c.862+927_862+929delinsTTC (n.862+927_862+929delinsTTC) n.612+927_612+929delinsTTC n.255+927_255+929delinsTTC | |
| 12 | g.91107192_91107195del | CA2054318121 | LUM | c.862+926_862+929del (n.862+926_862+929del) n.612+926_612+929del n.255+926_255+929del | dbSNP |
| 12 | g.91107189_91107199delinsGAAGGAAAGAA | CA2054318123 | LUM | c.862+919_862+929delinsTTCTTTCCTTC (n.862+919_862+929delinsTTCTTTCCTTC) n.612+919_612+929delinsTTCTTTCCTTC n.255+919_255+929delinsTTCTTTCCTTC | |
| 12 | g.91107190A= | CA2054318126 | LUM | c.862+928T= (n.862+928T=) n.612+928T= n.255+928T= | |
| 12 | g.91107190A>T | CA2054318127 | LUM | c.862+928T>A (n.862+928T>A) n.612+928T>A n.255+928T>A | dbSNP |
| 12 | g.91107190_91107191del | CA2054318125 | LUM | c.862+927_862+928del (n.862+927_862+928del) n.612+927_612+928del n.255+927_255+928del | dbSNP |
| 12 | g.91107190_91107191dup | CA950429029 | LUM | c.862+927_862+928dup (n.862+927_862+928dup) n.612+927_612+928dup n.255+927_255+928dup | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107192_91107201del | CA693363474 | LUM | c.862+919_862+928del (n.862+919_862+928del) n.612+919_612+928del n.255+919_255+928del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107191A= | CA2054318129 | LUM | c.862+927T= (n.862+927T=) n.612+927T= n.255+927T= | |
| 12 | g.91107191A>T | CA950429032 | LUM | c.862+927T>A (n.862+927T>A) n.612+927T>A n.255+927T>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107191_91107193delinsAGG | CA2054318130 | LUM | c.862+925_862+927delinsCCT (n.862+925_862+927delinsCCT) n.612+925_612+927delinsCCT n.255+925_255+927delinsCCT |