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.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.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.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.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.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.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.91107216_91107219delinsAGAG | CA2054318181 | LUM | c.862+899_862+902delinsCTCT (n.862+899_862+902delinsCTCT) n.612+899_612+902delinsCTCT n.255+899_255+902delinsCTCT | |
| 12 | g.91107217_91107221del | CA2054318177 | LUM | c.862+898_862+902del (n.862+898_862+902del) n.612+898_612+902del n.255+898_255+902del | dbSNP |
| 12 | g.91107216_91107223delinsAGAGAAAG | CA2054318178 | LUM | c.862+895_862+902delinsCTTTCTCT (n.862+895_862+902delinsCTTTCTCT) n.612+895_612+902delinsCTTTCTCT n.255+895_255+902delinsCTTTCTCT | |
| 12 | g.91107217_91107219del | CA950429102 | LUM | c.862+899_862+901del (n.862+899_862+901del) n.612+899_612+901del n.255+899_255+901del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107217_91107223del | CA241230196 | LUM | c.862+895_862+901del (n.862+895_862+901del) n.612+895_612+901del n.255+895_255+901del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107219del | CA950429103 | LUM | c.862+899del (n.862+899del) n.612+899del n.255+899del | |
| 12 | g.91107219G= | CA2054318184 | LUM | c.862+899C= (n.862+899C=) n.612+899C= n.255+899C= | |
| 12 | g.91107219G>T | CA2054318185 | LUM | c.862+899C>A (n.862+899C>A) n.612+899C>A n.255+899C>A | dbSNP |
| 12 | g.91107219_91107223del | CA950429104 | LUM | c.862+895_862+899del (n.862+895_862+899del) n.612+895_612+899del n.255+895_255+899del | gnomAD v3 gnomAD v4 |
| 12 | g.91107220_91107223delinsAAAG | CA2054318186 | LUM | c.862+895_862+898delinsCTTT (n.862+895_862+898delinsCTTT) n.612+895_612+898delinsCTTT n.255+895_255+898delinsCTTT | |
| 12 | g.91107221A= | CA2054318188 | LUM | c.862+897T= (n.862+897T=) n.612+897T= n.255+897T= | |
| 12 | g.91107221A>C | CA2054318187 | LUM | c.862+897T>G (n.862+897T>G) n.612+897T>G n.255+897T>G | dbSNP |
| 12 | g.91107221A>G | CA950429106 | LUM | c.862+897T>C (n.862+897T>C) n.612+897T>C n.255+897T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107226_91107228del | CA241230224 | LUM | c.862+895_862+897del (n.862+895_862+897del) n.612+895_612+897del n.255+895_255+897del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107222_91107223delinsAG | CA2054318189 | LUM | c.862+895_862+896delinsCT (n.862+895_862+896delinsCT) n.612+895_612+896delinsCT n.255+895_255+896delinsCT | |
| 12 | g.91107224_91107225insGAGA | CA2600912208 | LUM | c.862+896_862+897insCTCT (n.862+896_862+897insCTCT) n.612+896_612+897insCTCT n.255+896_255+897insCTCT | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107223del | CA2054318190 | LUM | c.862+895del (n.862+895del) n.612+895del n.255+895del | dbSNP |
| 12 | g.91107223G>A | CA241230225 | LUM | c.862+895C>T (n.862+895C>T) n.612+895C>T n.255+895C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91107223G= | CA2054318191 | LUM | c.862+895C= (n.862+895C=) n.612+895C= n.255+895C= | |
| 12 | g.91107223_91107227delinsGAAGA | CA2054318192 | LUM | c.862+891_862+895delinsTCTTC (n.862+891_862+895delinsTCTTC) n.612+891_612+895delinsTCTTC n.255+891_255+895delinsTCTTC | |
| 12 | g.91107224A= | CA2054318194 | LUM | c.862+894T= (n.862+894T=) n.612+894T= n.255+894T= | |
| 12 | g.91107225dup | CA481083468 | LUM | c.862+894dup (n.862+894dup) n.612+894dup n.255+894dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107225del | CA606703604 | LUM | c.862+894del (n.862+894del) n.612+894del n.255+894del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107224_91107238delinsAAGAAAGAAAGAAAG | CA2054318193 | LUM | c.862+880_862+894delinsCTTTCTTTCTTTCTT (n.862+880_862+894delinsCTTTCTTTCTTTCTT) n.612+880_612+894delinsCTTTCTTTCTTTCTT n.255+880_255+894delinsCTTTCTTTCTTTCTT | |
| 12 | g.91107235_91107238dup | CA606703603 | LUM | c.862+891_862+894dup (n.862+891_862+894dup) n.612+891_612+894dup n.255+891_255+894dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107235_91107238del | CA2054318195 | LUM | c.862+891_862+894del (n.862+891_862+894del) n.612+891_612+894del n.255+891_255+894del | dbSNP |
| 12 | g.91107224_91107225insG | CA241230226 | LUM | c.862+893_862+894insC (n.862+893_862+894insC) n.612+893_612+894insC n.255+893_255+894insC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107224_91107225insGAGAAAAG | CA241230227 | LUM | c.862+893_862+894insCTTTTCTC (n.862+893_862+894insCTTTTCTC) n.612+893_612+894insCTTTTCTC n.255+893_255+894insCTTTTCTC | dbSNP |
| 12 | g.91107225A= | CA2054318197 | LUM | c.862+893T= (n.862+893T=) n.612+893T= n.255+893T= | |
| 12 | g.91107225A>G | CA693363555 | LUM | c.862+893T>C (n.862+893T>C) n.612+893T>C n.255+893T>C | dbSNP |
| 12 | g.91107225_91107226insAGAGA | CA606703605 | LUM | c.862+893_862+894insCTCTT (n.862+893_862+894insCTCTT) n.612+893_612+894insCTCTT n.255+893_255+894insCTCTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91107225_91107226delinsAG | CA2054318196 | LUM | c.862+892_862+893delinsCT (n.862+892_862+893delinsCT) n.612+892_612+893delinsCT n.255+892_255+893delinsCT | |
| 12 | g.91107225_91107238delinsGA | CA241230240 | LUM | c.862+880_862+893delinsTC (n.862+880_862+893delinsTC) n.612+880_612+893delinsTC n.255+880_255+893delinsTC | dbSNP |
| 12 | g.91107225_91107226insAG | CA2600912210 | LUM | c.862+892_862+893insCT (n.862+892_862+893insCT) n.612+892_612+893insCT n.255+892_255+893insCT | gnomAD v3 gnomAD v4 |
| 12 | g.91107226del | CA2054318199 | LUM | c.862+892del (n.862+892del) n.612+892del n.255+892del | dbSNP |
| 12 | g.91107226G>A | CA2054318201 | LUM | c.862+892C>T (n.862+892C>T) n.612+892C>T n.255+892C>T | dbSNP |