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.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.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.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 |
| 12 | g.91107216_91107217insAAAAGAAAGAAAGA | CA2054318148 | LUM | c.862+914_862+915insTTCTTTCTTTCTTT (n.862+914_862+915insTTCTTTCTTTCTTT) n.612+914_612+915insTTCTTTCTTTCTTT n.255+914_255+915insTTCTTTCTTTCTTT | dbSNP |
| 12 | g.91107212_91107213insGAGAAAGA | CA950429085 | LUM | c.862+912_862+913insCTCTTTCT (n.862+912_862+913insCTCTTTCT) n.612+912_612+913insCTCTTTCT n.255+912_255+913insCTCTTTCT | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107214_91107215insTAAAGAAA | CA2796947645 | LUM | c.862+910_862+911insATTTCTTT (n.862+910_862+911insATTTCTTT) n.612+910_612+911insATTTCTTT n.255+910_255+911insATTTCTTT | |
| 12 | g.91107208_91107214dup | CA693363529 | LUM | c.862+904_862+910dup (n.862+904_862+910dup) n.612+904_612+910dup n.255+904_255+910dup | dbSNP |
| 12 | g.91107210A= | CA2054318154 | LUM | c.862+908T= (n.862+908T=) n.612+908T= n.255+908T= | |
| 12 | g.91107210A>G | CA950429086 | LUM | c.862+908T>C (n.862+908T>C) n.612+908T>C n.255+908T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107217_91107224dup | CA2054318155 | LUM | c.862+901_862+908dup (n.862+901_862+908dup) n.612+901_612+908dup n.255+901_255+908dup | dbSNP |
| 12 | g.91107211G= | CA2054318156 | LUM | c.862+907C= (n.862+907C=) n.612+907C= n.255+907C= | |
| 12 | g.91107211G>T | CA2054318157 | LUM | c.862+907C>A (n.862+907C>A) n.612+907C>A n.255+907C>A | dbSNP |
| 12 | g.91107213_91107214del | CA950429090 | LUM | c.862+905_862+906del (n.862+905_862+906del) n.612+905_612+906del n.255+905_255+906del | gnomAD v3 gnomAD v4 |
| 12 | g.91107216_91107217insAAAAAAGA | CA2054318158 | LUM | c.862+906_862+907insTTTTCTTT (n.862+906_862+907insTTTTCTTT) n.612+906_612+907insTTTTCTTT n.255+906_255+907insTTTTCTTT | dbSNP |
| 12 | g.91107216_91107217insAACAAAGA | CA2054318159 | LUM | c.862+906_862+907insGTTTCTTT (n.862+906_862+907insGTTTCTTT) n.612+906_612+907insGTTTCTTT n.255+906_255+907insGTTTCTTT | dbSNP |
| 12 | g.91107216_91107217insAATAAAGA | CA693363530 | LUM | c.862+906_862+907insATTTCTTT (n.862+906_862+907insATTTCTTT) n.612+906_612+907insATTTCTTT n.255+906_255+907insATTTCTTT | dbSNP |
| 12 | g.91107212_91107223delinsAAAGAGAGAAAG | CA2054318160 | LUM | c.862+895_862+906delinsCTTTCTCTCTTT (n.862+895_862+906delinsCTTTCTCTCTTT) n.612+895_612+906delinsCTTTCTCTCTTT n.255+895_255+906delinsCTTTCTCTCTTT | |
| 12 | g.91107212_91107213insGAGAAAG | CA2600912206 | LUM | c.862+905_862+906insCTTTCTC (n.862+905_862+906insCTTTCTC) n.612+905_612+906insCTTTCTC n.255+905_255+906insCTTTCTC | gnomAD v3 gnomAD v4 |
| 12 | g.91107213A= | CA2054318163 | LUM | c.862+905T= (n.862+905T=) n.612+905T= n.255+905T= | |
| 12 | g.91107213_91107217delinsAAGAG | CA2054318164 | LUM | c.862+901_862+905delinsCTCTT (n.862+901_862+905delinsCTCTT) n.612+901_612+905delinsCTCTT n.255+901_255+905delinsCTCTT | |
| 12 | g.91107217_91107227del | CA2054318161 | LUM | c.862+895_862+905del (n.862+895_862+905del) n.612+895_612+905del n.255+895_255+905del | dbSNP |
| 12 | g.91107213_91107287delinsAAGAGAGAAAGAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG | CA2054318162 | LUM | c.862+831_862+905delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTT (n.862+831_862+905delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTT) n.612+831_612+905delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTT n.255+831_255+905delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTT | |
| 12 | g.91107214A= | CA2054318167 | LUM | c.862+904T= (n.862+904T=) n.612+904T= n.255+904T= | |
| 12 | g.91107214A>G | CA2054318166 | LUM | c.862+904T>C (n.862+904T>C) n.612+904T>C n.255+904T>C | dbSNP |
| 12 | g.91107214_91107215delinsAG | CA2054318165 | LUM | c.862+903_862+904delinsCT (n.862+903_862+904delinsCT) n.612+903_612+904delinsCT n.255+903_255+904delinsCT | |
| 12 | g.91107216_91107217insAAGACAGA | CA2054318170 | LUM | c.862+904_862+905insGTCTTTCT (n.862+904_862+905insGTCTTTCT) n.612+904_612+905insGTCTTTCT n.255+904_255+905insGTCTTTCT | dbSNP |
| 12 | g.91107216_91107217insAAGAGAGA | CA606703601 | LUM | c.862+904_862+905insCTCTTTCT (n.862+904_862+905insCTCTTTCT) n.612+904_612+905insCTCTTTCT n.255+904_255+905insCTCTTTCT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107219_91107220dup | CA2054318171 | LUM | c.862+903_862+904dup (n.862+903_862+904dup) n.612+903_612+904dup n.255+903_255+904dup | dbSNP |
| 12 | g.91107217_91107220dup | CA2054318168 | LUM | c.862+901_862+904dup (n.862+901_862+904dup) n.612+901_612+904dup n.255+901_255+904dup | dbSNP |
| 12 | g.91107217_91107220del | CA606703600 | LUM | c.862+901_862+904del (n.862+901_862+904del) n.612+901_612+904del n.255+901_255+904del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107214_91107238delinsAGAGAGAAAGAAGAAAGAAAGAAAG | CA2054318169 | LUM | c.862+880_862+904delinsCTTTCTTTCTTTCTTCTTTCTCTCT (n.862+880_862+904delinsCTTTCTTTCTTTCTTCTTTCTCTCT) n.612+880_612+904delinsCTTTCTTTCTTTCTTCTTTCTCTCT n.255+880_255+904delinsCTTTCTTTCTTTCTTCTTTCTCTCT | |
| 12 | g.91107217_91107290del | CA950429095 | LUM | c.862+831_862+904del (n.862+831_862+904del) n.612+831_612+904del n.255+831_255+904del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107215del | CA950429096 | LUM | c.862+903del (n.862+903del) n.612+903del n.255+903del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107215G>A | CA2054318174 | LUM | c.862+903C>T (n.862+903C>T) n.612+903C>T n.255+903C>T | dbSNP |
| 12 | g.91107215G= | CA2054318172 | LUM | c.862+903C= (n.862+903C=) n.612+903C= n.255+903C= | |
| 12 | g.91107216_91107217insAAGAAAGAACGA | CA2054318175 | LUM | c.862+903_862+904insGTTCTTTCTTTC (n.862+903_862+904insGTTCTTTCTTTC) n.612+903_612+904insGTTCTTTCTTTC n.255+903_255+904insGTTCTTTCTTTC | dbSNP |
| 12 | g.91107215_91107220delinsGAGAGA | CA2054318173 | LUM | c.862+898_862+903delinsTCTCTC (n.862+898_862+903delinsTCTCTC) n.612+898_612+903delinsTCTCTC n.255+898_255+903delinsTCTCTC | |
| 12 | g.91107217_91107240del | CA606703602 | LUM | c.862+880_862+903del (n.862+880_862+903del) n.612+880_612+903del n.255+880_255+903del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107216A= | CA2054318179 | LUM | c.862+902T= (n.862+902T=) n.612+902T= n.255+902T= | |
| 12 | g.91107216_91107217insAA | CA950429097 | LUM | c.862+902_862+903insTT (n.862+902_862+903insTT) n.612+902_612+903insTT n.255+902_255+903insTT | dbSNP gnomAD v3 gnomAD v4 |