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.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.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.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.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.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.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.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.91107191_91107197delinsAGGAAAG | CA2054318128 | LUM | c.862+921_862+927delinsCTTTCCT (n.862+921_862+927delinsCTTTCCT) n.612+921_612+927delinsCTTTCCT n.255+921_255+927delinsCTTTCCT | |
| 12 | g.91107192_91107197del | CA2054318131 | LUM | c.862+921_862+926del (n.862+921_862+926del) n.612+921_612+926del n.255+921_255+926del | dbSNP |
| 12 | g.91107195_91107196dup | CA693363482 | LUM | c.862+923_862+924dup (n.862+923_862+924dup) n.612+923_612+924dup n.255+923_255+924dup | dbSNP |
| 12 | g.91107197G>A | CA693363483 | LUM | c.862+921C>T (n.862+921C>T) n.612+921C>T n.255+921C>T | dbSNP |
| 12 | g.91107197G= | CA2054318134 | LUM | c.862+921C= (n.862+921C=) n.612+921C= n.255+921C= | |
| 12 | g.91107197G>T | CA2054318135 | LUM | c.862+921C>A (n.862+921C>A) n.612+921C>A n.255+921C>A | dbSNP |
| 12 | g.91107197_91107199delinsGAA | CA2054318136 | LUM | c.862+919_862+921delinsTTC (n.862+919_862+921delinsTTC) n.612+919_612+921delinsTTC n.255+919_255+921delinsTTC | |
| 12 | g.91107198_91107199insCAAAGAAA | CA693363487 | LUM | c.862+920_862+921insTTCTTTGT (n.862+920_862+921insTTCTTTGT) n.612+920_612+921insTTCTTTGT n.255+920_255+921insTTCTTTGT | dbSNP |
| 12 | g.91107202_91107203insCAAAAAAA | CA241230166 | LUM | c.862+920_862+921insTTGTTTTT (n.862+920_862+921insTTGTTTTT) n.612+920_612+921insTTGTTTTT n.255+920_255+921insTTGTTTTT | dbSNP |
| 12 | g.91107202dup | CA2054318137 | LUM | c.862+920dup (n.862+920dup) n.612+920dup n.255+920dup | dbSNP |
| 12 | g.91107199_91107202dup | CA950429044 | LUM | c.862+917_862+920dup (n.862+917_862+920dup) n.612+917_612+920dup n.255+917_255+920dup | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107201_91107202del | CA241230169 | LUM | c.862+919_862+920del (n.862+919_862+920del) n.612+919_612+920del n.255+919_255+920del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107198_91107199insC | CA950429055 | LUM | c.862+919_862+920insG (n.862+919_862+920insG) n.612+919_612+920insG n.255+919_255+920insG | gnomAD v3 gnomAD v4 |
| 12 | g.91107199A= | CA2054318138 | LUM | c.862+919T= (n.862+919T=) n.612+919T= n.255+919T= | |
| 12 | g.91107199A>C | CA693363490 | LUM | c.862+919T>G (n.862+919T>G) n.612+919T>G n.255+919T>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107199A>G | CA241230174 | LUM | c.862+919T>C (n.862+919T>C) n.612+919T>C n.255+919T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107199_91107215delinsAAAAGAAAGAAAGAAAG | CA2054318139 | LUM | c.862+903_862+919delinsCTTTCTTTCTTTCTTTT (n.862+903_862+919delinsCTTTCTTTCTTTCTTTT) n.612+903_612+919delinsCTTTCTTTCTTTCTTTT n.255+903_255+919delinsCTTTCTTTCTTTCTTTT | |
| 12 | g.91107200_91107201insGA | CA241230188 | LUM | c.862+918_862+919insCT (n.862+918_862+919insCT) n.612+918_612+919insCT n.255+918_255+919insCT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107201_91107202insGAA | CA2796947644 | LUM | c.862+918_862+919insCTT (n.862+918_862+919insCTT) n.612+918_612+919insCTT n.255+918_255+919insCTT | |
| 12 | g.91107201_91107202insGAAAGAA | CA950429066 | LUM | c.862+918_862+919insCTTTCTT (n.862+918_862+919insCTTTCTT) n.612+918_612+919insCTTTCTT n.255+918_255+919insCTTTCTT | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107201_91107202insGGAAAGAAAGAA | CA693363512 | LUM | c.862+918_862+919insCTTTCTTTCCTT (n.862+918_862+919insCTTTCTTTCCTT) n.612+918_612+919insCTTTCTTTCCTT n.255+918_255+919insCTTTCTTTCCTT | dbSNP |
| 12 | g.91107202_91107203insAGAAA | CA693363514 | LUM | c.862+918_862+919insCTTTT (n.862+918_862+919insCTTTT) n.612+918_612+919insCTTTT n.255+918_255+919insCTTTT | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107216_91107217insAAGAGAGAAAGAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGA | CA950429072 | LUM | c.862+918_862+919insCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTTTCTTTCTTTCTTTCTTT (n.862+918_862+919insCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTTTCTTTCTTTCTTTCTTT) n.612+918_612+919insCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTTTCTTTCTTTCTTTCTTT n.255+918_255+919insCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTTTCTTTCTTTCTTTCTTT | gnomAD v3 gnomAD v4 |
| 12 | g.91107213_91107216dup | CA241230185 | LUM | c.862+915_862+918dup (n.862+915_862+918dup) n.612+915_612+918dup n.255+915_255+918dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107209_91107216dup | CA241230186 | LUM | c.862+911_862+918dup (n.862+911_862+918dup) n.612+911_612+918dup n.255+911_255+918dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107205_91107216dup | CA241230187 | LUM | c.862+907_862+918dup (n.862+907_862+918dup) n.612+907_612+918dup n.255+907_255+918dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107201_91107216dup | CA693363500 | LUM | c.862+903_862+918dup (n.862+903_862+918dup) n.612+903_612+918dup n.255+903_255+918dup | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107213_91107216del | CA693363522 | LUM | c.862+915_862+918del (n.862+915_862+918del) n.612+915_612+918del n.255+915_255+918del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107201_91107216del | CA606703599 | LUM | c.862+903_862+918del (n.862+903_862+918del) n.612+903_612+918del n.255+903_255+918del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107217_91107314del | CA950429067 | LUM | c.862+821_862+918del (n.862+821_862+918del) n.612+821_612+918del n.255+821_255+918del | gnomAD v3 gnomAD v4 |
| 12 | g.91107201A= | CA2054318140 | LUM | c.862+917T= (n.862+917T=) n.612+917T= n.255+917T= | |
| 12 | g.91107201A>G | CA2054318141 | LUM | c.862+917T>C (n.862+917T>C) n.612+917T>C n.255+917T>C | dbSNP |
| 12 | g.91107203_91107205del | CA2527493138 | LUM | c.862+915_862+917del (n.862+915_862+917del) n.612+915_612+917del n.255+915_255+917del | |
| 12 | g.91107202A= | CA2054318142 | LUM | c.862+916T= (n.862+916T=) n.612+916T= n.255+916T= | |
| 12 | g.91107202A>C | CA2054318143 | LUM | c.862+916T>G (n.862+916T>G) n.612+916T>G n.255+916T>G | dbSNP |
| 12 | g.91107203G= | CA2054318144 | LUM | c.862+915C= (n.862+915C=) n.612+915C= n.255+915C= | |
| 12 | g.91107204A= | CA2054318147 | LUM | c.862+914T= (n.862+914T=) n.612+914T= n.255+914T= | |
| 12 | g.91107204A>G | CA2054318146 | LUM | c.862+914T>C (n.862+914T>C) n.612+914T>C n.255+914T>C | dbSNP |
| 12 | g.91107210_91107211insTAAAGAAA | CA2054318145 | LUM | c.862+914_862+915insATTTCTTT (n.862+914_862+915insATTTCTTT) n.612+914_612+915insATTTCTTT n.255+914_255+915insATTTCTTT | dbSNP |
| 12 | g.91107204_91107210dup | CA693363528 | LUM | c.862+908_862+914dup (n.862+908_862+914dup) n.612+908_612+914dup n.255+908_255+914dup | dbSNP gnomAD v3 gnomAD v4 |