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.7584510dup | CA2695205963 | DSP | c.5919dup (p.Asp1974Ter) c.7248dup (p.Asp2417Ter) c.5451dup (p.Asp1818Ter) | |
| 6 | g.7584510del | CA007160 | DSP | c.5919del (p.Phe1973LeufsTer14) c.7248del (p.Phe2416LeufsTer14) c.5451del (p.Phe1817LeufsTer14) | ClinVar dbSNP |
| 6 | g.7584510T>A | CA362692573 | DSP | c.5919T>A (p.Phe1973Leu) c.7248T>A (p.Phe2416Leu) c.5451T>A (p.Phe1817Leu) | |
| 6 | g.7584510T>C | CA448716447 | DSP | c.5919T>C (p.Phe1973=) c.7248T>C (p.Phe2416=) c.5451T>C (p.Phe1817=) | |
| 6 | g.7584510T>G | CA362692574 | DSP | c.5919T>G (p.Phe1973Leu) c.7248T>G (p.Phe2416Leu) c.5451T>G (p.Phe1817Leu) | |
| 6 | g.7584511G>A | CA362692575 | DSP | c.5920G>A (p.Asp1974Asn) c.7249G>A (p.Asp2417Asn) c.5452G>A (p.Asp1818Asn) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584511G>C | CA362692576 | DSP | c.5920G>C (p.Asp1974His) c.7249G>C (p.Asp2417His) c.5452G>C (p.Asp1818His) | |
| 6 | g.7584511G= | CA1608611344 | DSP | c.5920G= (p.Asp1974=) c.7249G= (p.Asp2417=) c.5452G= (p.Asp1818=) | |
| 6 | g.7584511G>T | CA049348 | DSP | c.5920G>T (p.Asp1974Tyr) c.7249G>T (p.Asp2417Tyr) c.5452G>T (p.Asp1818Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584512A>C | CA362692577 | DSP | c.5921A>C (p.Asp1974Ala) c.7250A>C (p.Asp2417Ala) c.5453A>C (p.Asp1818Ala) | |
| 6 | g.7584512A>G | CA362692578 | DSP | c.5921A>G (p.Asp1974Gly) c.7250A>G (p.Asp2417Gly) c.5453A>G (p.Asp1818Gly) | |
| 6 | g.7584512A>T | CA362692579 | DSP | c.5921A>T (p.Asp1974Val) c.7250A>T (p.Asp2417Val) c.5453A>T (p.Asp1818Val) | |
| 6 | g.7584513C>A | CA362692580 | DSP | c.5922C>A (p.Asp1974Glu) c.7251C>A (p.Asp2417Glu) c.5454C>A (p.Asp1818Glu) | |
| 6 | g.7584513C>G | CA362692581 | DSP | c.5922C>G (p.Asp1974Glu) c.7251C>G (p.Asp2417Glu) c.5454C>G (p.Asp1818Glu) | |
| 6 | g.7584513C>T | CA448716465 | DSP | c.5922C>T (p.Asp1974=) c.7251C>T (p.Asp2417=) c.5454C>T (p.Asp1818=) | |
| 6 | g.7584516dup | CA2580075355 | DSP | c.5925dup (p.Asn1976GlnfsTer3) c.7254dup (p.Asn2419GlnfsTer3) c.5457dup (p.Asn1820GlnfsTer3) | ClinVar |
| 6 | g.7584514C>A | CA362692582 | DSP | c.5923C>A (p.Pro1975Thr) c.7252C>A (p.Pro2418Thr) c.5455C>A (p.Pro1819Thr) | gnomAD v4 |
| 6 | g.7584514C>G | CA362692583 | DSP | c.5923C>G (p.Pro1975Ala) c.7252C>G (p.Pro2418Ala) c.5455C>G (p.Pro1819Ala) | |
| 6 | g.7584514C>T | CA362692584 | DSP | c.5923C>T (p.Pro1975Ser) c.7252C>T (p.Pro2418Ser) c.5455C>T (p.Pro1819Ser) | gnomAD v4 |
| 6 | g.7584515C>A | CA362692585 | DSP | c.5924C>A (p.Pro1975His) c.7253C>A (p.Pro2418His) c.5456C>A (p.Pro1819His) | |
| 6 | g.7584515C>G | CA362692586 | DSP | c.5924C>G (p.Pro1975Arg) c.7253C>G (p.Pro2418Arg) c.5456C>G (p.Pro1819Arg) | |
| 6 | g.7584515C>T | CA362692587 | DSP | c.5924C>T (p.Pro1975Leu) c.7253C>T (p.Pro2418Leu) c.5456C>T (p.Pro1819Leu) | |
| 6 | g.7584516C>A | CA448716476 | DSP | c.5925C>A (p.Pro1975=) c.7254C>A (p.Pro2418=) c.5457C>A (p.Pro1819=) | |
| 6 | g.7584516C>G | CA448716475 | DSP | c.5925C>G (p.Pro1975=) c.7254C>G (p.Pro2418=) c.5457C>G (p.Pro1819=) | |
| 6 | g.7584516C>T | CA448716471 | DSP | c.5925C>T (p.Pro1975=) c.7254C>T (p.Pro2418=) c.5457C>T (p.Pro1819=) | |
| 6 | g.7584517A>C | CA362692590 | DSP | c.5926A>C (p.Asn1976His) c.7255A>C (p.Asn2419His) c.5458A>C (p.Asn1820His) | |
| 6 | g.7584517A>G | CA362692589 | DSP | c.5926A>G (p.Asn1976Asp) c.7255A>G (p.Asn2419Asp) c.5458A>G (p.Asn1820Asp) | |
| 6 | g.7584517A>T | CA362692588 | DSP | c.5926A>T (p.Asn1976Tyr) c.7255A>T (p.Asn2419Tyr) c.5458A>T (p.Asn1820Tyr) | |
| 6 | g.7584518dup | CA2695205964 | DSP | c.5927dup (p.Asn1976LysfsTer3) c.7256dup (p.Asn2419LysfsTer3) c.5459dup (p.Asn1820LysfsTer3) | |
| 6 | g.7584518A= | CA1608611354 | DSP | c.5927A= (p.Asn1976=) c.7256A= (p.Asn2419=) c.5459A= (p.Asn1820=) | |
| 6 | g.7584518A>C | CA362692591 | DSP | c.5927A>C (p.Asn1976Thr) c.7256A>C (p.Asn2419Thr) c.5459A>C (p.Asn1820Thr) | |
| 6 | g.7584518A>G | CA362692592 | DSP | c.5927A>G (p.Asn1976Ser) c.7256A>G (p.Asn2419Ser) c.5459A>G (p.Asn1820Ser) | dbSNP gnomAD v4 |
| 6 | g.7584518A>T | CA362692593 | DSP | c.5927A>T (p.Asn1976Ile) c.7256A>T (p.Asn2419Ile) c.5459A>T (p.Asn1820Ile) | |
| 6 | g.7584519C>A | CA362692594 | DSP | c.5928C>A (p.Asn1976Lys) c.7257C>A (p.Asn2419Lys) c.5460C>A (p.Asn1820Lys) | |
| 6 | g.7584519C= | CA1608611356 | DSP | c.5928C= (p.Asn1976=) c.7257C= (p.Asn2419=) c.5460C= (p.Asn1820=) | |
| 6 | g.7584519C>G | CA362692595 | DSP | c.5928C>G (p.Asn1976Lys) c.7257C>G (p.Asn2419Lys) c.5460C>G (p.Asn1820Lys) | gnomAD v4 |
| 6 | g.7584519C>T | CA448716488 | DSP | c.5928C>T (p.Asn1976=) c.7257C>T (p.Asn2419=) c.5460C>T (p.Asn1820=) | ClinVar dbSNP |
| 6 | g.7584520A>C | CA362692598 | DSP | c.5929A>C (p.Thr1977Pro) c.7258A>C (p.Thr2420Pro) c.5461A>C (p.Thr1821Pro) | |
| 6 | g.7584520A>G | CA362692597 | DSP | c.5929A>G (p.Thr1977Ala) c.7258A>G (p.Thr2420Ala) c.5461A>G (p.Thr1821Ala) | |
| 6 | g.7584520A>T | CA362692596 | DSP | c.5929A>T (p.Thr1977Ser) c.7258A>T (p.Thr2420Ser) c.5461A>T (p.Thr1821Ser) | |
| 6 | g.7584521C>A | CA362692599 | DSP | c.5930C>A (p.Thr1977Asn) c.7259C>A (p.Thr2420Asn) c.5462C>A (p.Thr1821Asn) | |
| 6 | g.7584521C>G | CA362692600 | DSP | c.5930C>G (p.Thr1977Ser) c.7259C>G (p.Thr2420Ser) c.5462C>G (p.Thr1821Ser) | |
| 6 | g.7584521C>T | CA362692601 | DSP | c.5930C>T (p.Thr1977Ile) c.7259C>T (p.Thr2420Ile) c.5462C>T (p.Thr1821Ile) | |
| 6 | g.7584522T>A | CA448716504 | DSP | c.5931T>A (p.Thr1977=) c.7260T>A (p.Thr2420=) c.5463T>A (p.Thr1821=) | |
| 6 | g.7584522T>C | CA448716506 | DSP | c.5931T>C (p.Thr1977=) c.7260T>C (p.Thr2420=) c.5463T>C (p.Thr1821=) | |
| 6 | g.7584522T>G | CA448716507 | DSP | c.5931T>G (p.Thr1977=) c.7260T>G (p.Thr2420=) c.5463T>G (p.Thr1821=) |