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 |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7583301G>A | CA448715642 | DSP | c.4710G>A (p.Arg1570=) c.6039G>A (p.Arg2013=) c.4242G>A (p.Arg1414=) | COSMIC |
| 6 | g.7583301G>C | CA448715640 | DSP | c.4710G>C (p.Arg1570=) c.6039G>C (p.Arg2013=) c.4242G>C (p.Arg1414=) | |
| 6 | g.7583301G>T | CA448715643 | DSP | c.4710G>T (p.Arg1570=) c.6039G>T (p.Arg2013=) c.4242G>T (p.Arg1414=) | COSMIC |
| 6 | g.7583302G>A | CA362689961 | DSP | c.4711G>A (p.Gly1571Ser) c.6040G>A (p.Gly2014Ser) c.4243G>A (p.Gly1415Ser) | |
| 6 | g.7583302G>C | CA362689960 | DSP | c.4711G>C (p.Gly1571Arg) c.6040G>C (p.Gly2014Arg) c.4243G>C (p.Gly1415Arg) | |
| 6 | g.7583302G>T | CA362689959 | DSP | c.4711G>T (p.Gly1571Cys) c.6040G>T (p.Gly2014Cys) c.4243G>T (p.Gly1415Cys) | |
| 6 | g.7583303G>A | CA362689962 | DSP | c.4712G>A (p.Gly1571Asp) c.6041G>A (p.Gly2014Asp) c.4244G>A (p.Gly1415Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583303G>C | CA362689963 | DSP | c.4712G>C (p.Gly1571Ala) c.6041G>C (p.Gly2014Ala) c.4244G>C (p.Gly1415Ala) | ClinVar dbSNP |
| 6 | g.7583303G= | CA1608607747 | DSP | c.4712G= (p.Gly1571=) c.6041G= (p.Gly2014=) c.4244G= (p.Gly1415=) | |
| 6 | g.7583303G>T | CA362689964 | DSP | c.4712G>T (p.Gly1571Val) c.6041G>T (p.Gly2014Val) c.4244G>T (p.Gly1415Val) | |
| 6 | g.7583304T>A | CA448715645 | DSP | c.4713T>A (p.Gly1571=) c.6042T>A (p.Gly2014=) c.4245T>A (p.Gly1415=) | |
| 6 | g.7583304T>C | CA448715646 | DSP | c.4713T>C (p.Gly1571=) c.6042T>C (p.Gly2014=) c.4245T>C (p.Gly1415=) | |
| 6 | g.7583304T>G | CA448715647 | DSP | c.4713T>G (p.Gly1571=) c.6042T>G (p.Gly2014=) c.4245T>G (p.Gly1415=) | |
| 6 | g.7583305del | CA2710966512 | DSP | c.4714del (p.Ala1572GlnfsTer18) c.6043del (p.Ala2015GlnfsTer18) c.4246del (p.Ala1416GlnfsTer18) | dbSNP |
| 6 | g.7583305G>A | CA362689965 | DSP | c.4714G>A (p.Ala1572Thr) c.6043G>A (p.Ala2015Thr) c.4246G>A (p.Ala1416Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583305G>C | CA362689966 | DSP | c.4714G>C (p.Ala1572Pro) c.6043G>C (p.Ala2015Pro) c.4246G>C (p.Ala1416Pro) | |
| 6 | g.7583305G= | CA1608607761 | DSP | c.4714G= (p.Ala1572=) c.6043G= (p.Ala2015=) c.4246G= (p.Ala1416=) | |
| 6 | g.7583305G>T | CA362689967 | DSP | c.4714G>T (p.Ala1572Ser) c.6043G>T (p.Ala2015Ser) c.4246G>T (p.Ala1416Ser) | |
| 6 | g.7583306C>A | CA362689968 | DSP | c.4715C>A (p.Ala1572Glu) c.6044C>A (p.Ala2015Glu) c.4247C>A (p.Ala1416Glu) | |
| 6 | g.7583306C>G | CA362689970 | DSP | c.4715C>G (p.Ala1572Gly) c.6044C>G (p.Ala2015Gly) c.4247C>G (p.Ala1416Gly) | |
| 6 | g.7583306C>T | CA362689969 | DSP | c.4715C>T (p.Ala1572Val) c.6044C>T (p.Ala2015Val) c.4247C>T (p.Ala1416Val) | |
| 6 | g.7583307A= | CA1608607766 | DSP | c.4716A= (p.Ala1572=) c.6045A= (p.Ala2015=) c.4248A= (p.Ala1416=) | |
| 6 | g.7583307A>C | CA448715652 | DSP | c.4716A>C (p.Ala1572=) c.6045A>C (p.Ala2015=) c.4248A>C (p.Ala1416=) | |
| 6 | g.7583307A>G | CA046685 | DSP | c.4716A>G (p.Ala1572=) c.6045A>G (p.Ala2015=) c.4248A>G (p.Ala1416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583307A>T | CA448715654 | DSP | c.4716A>T (p.Ala1572=) c.6045A>T (p.Ala2015=) c.4248A>T (p.Ala1416=) | |
| 6 | g.7583308G>A | CA362689971 | DSP | c.4717G>A (p.Gly1573Arg) c.6046G>A (p.Gly2016Arg) c.4249G>A (p.Gly1417Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583308G>C | CA362689972 | DSP | c.4717G>C (p.Gly1573Arg) c.6046G>C (p.Gly2016Arg) c.4249G>C (p.Gly1417Arg) | |
| 6 | g.7583308G= | CA1608607779 | DSP | c.4717G= (p.Gly1573=) c.6046G= (p.Gly2016=) c.4249G= (p.Gly1417=) | |
| 6 | g.7583308G>T | CA362689973 | DSP | c.4717G>T (p.Gly1573Ter) c.6046G>T (p.Gly2016Ter) c.4249G>T (p.Gly1417Ter) | |
| 6 | g.7583309G>A | CA046697 | DSP | c.4718G>A (p.Gly1573Glu) c.6047G>A (p.Gly2016Glu) c.4250G>A (p.Gly1417Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7583309G>C | CA362689974 | DSP | c.4718G>C (p.Gly1573Ala) c.6047G>C (p.Gly2016Ala) c.4250G>C (p.Gly1417Ala) | |
| 6 | g.7583309G= | CA1608607785 | DSP | c.4718G= (p.Gly1573=) c.6047G= (p.Gly2016=) c.4250G= (p.Gly1417=) | |
| 6 | g.7583309G>T | CA16605594 | DSP | c.4718G>T (p.Gly1573Val) c.6047G>T (p.Gly2016Val) c.4250G>T (p.Gly1417Val) | ClinVar dbSNP |
| 6 | g.7583310A= | CA1608607792 | DSP | c.4719A= (p.Gly1573=) c.6048A= (p.Gly2016=) c.4251A= (p.Gly1417=) | |
| 6 | g.7583310A>C | CA448715657 | DSP | c.4719A>C (p.Gly1573=) c.6048A>C (p.Gly2016=) c.4251A>C (p.Gly1417=) | |
| 6 | g.7583310A>G | CA448715659 | DSP | c.4719A>G (p.Gly1573=) c.6048A>G (p.Gly2016=) c.4251A>G (p.Gly1417=) | |
| 6 | g.7583310A>T | CA046707 | DSP | c.4719A>T (p.Gly1573=) c.6048A>T (p.Gly2016=) c.4251A>T (p.Gly1417=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583311T>A | CA362689975 | DSP | c.4720T>A (p.Ser1574Thr) c.6049T>A (p.Ser2017Thr) c.4252T>A (p.Ser1418Thr) | |
| 6 | g.7583311T>C | CA362689976 | DSP | c.4720T>C (p.Ser1574Pro) c.6049T>C (p.Ser2017Pro) c.4252T>C (p.Ser1418Pro) | |
| 6 | g.7583311T>G | CA362689977 | DSP | c.4720T>G (p.Ser1574Ala) c.6049T>G (p.Ser2017Ala) c.4252T>G (p.Ser1418Ala) | |
| 6 | g.7583312C>A | CA362689978 | DSP | c.4721C>A (p.Ser1574Tyr) c.6050C>A (p.Ser2017Tyr) c.4253C>A (p.Ser1418Tyr) | |
| 6 | g.7583312C>G | CA362689980 | DSP | c.4721C>G (p.Ser1574Cys) c.6050C>G (p.Ser2017Cys) c.4253C>G (p.Ser1418Cys) | |
| 6 | g.7583312C>T | CA362689979 | DSP | c.4721C>T (p.Ser1574Phe) c.6050C>T (p.Ser2017Phe) c.4253C>T (p.Ser1418Phe) | |
| 6 | g.7583313T>A | CA448715663 | DSP | c.4722T>A (p.Ser1574=) c.6051T>A (p.Ser2017=) c.4254T>A (p.Ser1418=) | |
| 6 | g.7583313T>C | CA448715664 | DSP | c.4722T>C (p.Ser1574=) c.6051T>C (p.Ser2017=) c.4254T>C (p.Ser1418=) | |
| 6 | g.7583313T>G | CA448715665 | DSP | c.4722T>G (p.Ser1574=) c.6051T>G (p.Ser2017=) c.4254T>G (p.Ser1418=) |