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.7585042dup | CA2580075383 | DSP | c.6451dup (p.Ser2151PhefsTer?) c.7780dup (p.Ser2594PhefsTer?) c.5983dup (p.Ser1995PhefsTer?) | ClinVar |
| 6 | g.7585042del | CA007274 | DSP | c.6451del (p.Ser2151ProfsTer9) c.7780del (p.Ser2594ProfsTer9) c.5983del (p.Ser1995ProfsTer9) | ClinVar dbSNP |
| 6 | g.7585042T>A | CA362693761 | DSP | c.6451T>A (p.Ser2151Thr) c.7780T>A (p.Ser2594Thr) c.5983T>A (p.Ser1995Thr) | |
| 6 | g.7585042T>C | CA362693762 | DSP | c.6451T>C (p.Ser2151Pro) c.7780T>C (p.Ser2594Pro) c.5983T>C (p.Ser1995Pro) | |
| 6 | g.7585042T>G | CA362693763 | DSP | c.6451T>G (p.Ser2151Ala) c.7780T>G (p.Ser2594Ala) c.5983T>G (p.Ser1995Ala) | |
| 6 | g.7585043C>A | CA362693764 | DSP | c.6452C>A (p.Ser2151Tyr) c.7781C>A (p.Ser2594Tyr) c.5984C>A (p.Ser1995Tyr) | |
| 6 | g.7585043C>G | CA362693765 | DSP | c.6452C>G (p.Ser2151Cys) c.7781C>G (p.Ser2594Cys) c.5984C>G (p.Ser1995Cys) | |
| 6 | g.7585043C>T | CA362693766 | DSP | c.6452C>T (p.Ser2151Phe) c.7781C>T (p.Ser2594Phe) c.5984C>T (p.Ser1995Phe) | gnomAD v4 |
| 6 | g.7585044C>A | CA448716485 | DSP | c.6453C>A (p.Ser2151=) c.7782C>A (p.Ser2594=) c.5985C>A (p.Ser1995=) | gnomAD v4 |
| 6 | g.7585044C>G | CA448716487 | DSP | c.6453C>G (p.Ser2151=) c.7782C>G (p.Ser2594=) c.5985C>G (p.Ser1995=) | |
| 6 | g.7585044C>T | CA448716486 | DSP | c.6453C>T (p.Ser2151=) c.7782C>T (p.Ser2594=) c.5985C>T (p.Ser1995=) | gnomAD v4 |
| 6 | g.7585045A= | CA1608613096 | DSP | c.6454A= (p.Thr2152=) c.7783A= (p.Thr2595=) c.5986A= (p.Thr1996=) | |
| 6 | g.7585045A>C | CA362693767 | DSP | c.6454A>C (p.Thr2152Pro) c.7783A>C (p.Thr2595Pro) c.5986A>C (p.Thr1996Pro) | |
| 6 | g.7585045A>G | CA362693768 | DSP | c.6454A>G (p.Thr2152Ala) c.7783A>G (p.Thr2595Ala) c.5986A>G (p.Thr1996Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585045A>T | CA362693769 | DSP | c.6454A>T (p.Thr2152Ser) c.7783A>T (p.Thr2595Ser) c.5986A>T (p.Thr1996Ser) | |
| 6 | g.7585046C>A | CA362693770 | DSP | c.6455C>A (p.Thr2152Asn) c.7784C>A (p.Thr2595Asn) c.5987C>A (p.Thr1996Asn) | |
| 6 | g.7585046C= | CA1608613100 | DSP | c.6455C= (p.Thr2152=) c.7784C= (p.Thr2595=) c.5987C= (p.Thr1996=) | |
| 6 | g.7585046C>G | CA133976625 | DSP | c.6455C>G (p.Thr2152Ser) c.7784C>G (p.Thr2595Ser) c.5987C>G (p.Thr1996Ser) | dbSNP gnomAD v4 |
| 6 | g.7585046C>T | CA050845 | DSP | c.6455C>T (p.Thr2152Ile) c.7784C>T (p.Thr2595Ile) c.5987C>T (p.Thr1996Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585047C>A | CA448716496 | DSP | c.6456C>A (p.Thr2152=) c.7785C>A (p.Thr2595=) c.5988C>A (p.Thr1996=) | |
| 6 | g.7585047C>G | CA448716500 | DSP | c.6456C>G (p.Thr2152=) c.7785C>G (p.Thr2595=) c.5988C>G (p.Thr1996=) | |
| 6 | g.7585047C>T | CA448716502 | DSP | c.6456C>T (p.Thr2152=) c.7785C>T (p.Thr2595=) c.5988C>T (p.Thr1996=) | |
| 6 | g.7585048A>C | CA362693771 | DSP | c.6457A>C (p.Ile2153Leu) c.7786A>C (p.Ile2596Leu) c.5989A>C (p.Ile1997Leu) | |
| 6 | g.7585048A>G | CA362693772 | DSP | c.6457A>G (p.Ile2153Val) c.7786A>G (p.Ile2596Val) c.5989A>G (p.Ile1997Val) | |
| 6 | g.7585048A>T | CA362693773 | DSP | c.6457A>T (p.Ile2153Leu) c.7786A>T (p.Ile2596Leu) c.5989A>T (p.Ile1997Leu) | |
| 6 | g.7585049T>A | CA362693774 | DSP | c.6458T>A (p.Ile2153Lys) c.7787T>A (p.Ile2596Lys) c.5990T>A (p.Ile1997Lys) | |
| 6 | g.7585049T>C | CA050859 | DSP | c.6458T>C (p.Ile2153Thr) c.7787T>C (p.Ile2596Thr) c.5990T>C (p.Ile1997Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585049T>G | CA362693775 | DSP | c.6458T>G (p.Ile2153Arg) c.7787T>G (p.Ile2596Arg) c.5990T>G (p.Ile1997Arg) | |
| 6 | g.7585049T= | CA1608613108 | DSP | c.6458T= (p.Ile2153=) c.7787T= (p.Ile2596=) c.5990T= (p.Ile1997=) | |
| 6 | g.7585050A>C | CA448716511 | DSP | c.6459A>C (p.Ile2153=) c.7788A>C (p.Ile2596=) c.5991A>C (p.Ile1997=) | |
| 6 | g.7585050A>G | CA362693776 | DSP | c.6459A>G (p.Ile2153Met) c.7788A>G (p.Ile2596Met) c.5991A>G (p.Ile1997Met) | |
| 6 | g.7585050A>T | CA448716513 | DSP | c.6459A>T (p.Ile2153=) c.7788A>T (p.Ile2596=) c.5991A>T (p.Ile1997=) | |
| 6 | g.7585051T>A | CA362693777 | DSP | c.6460T>A (p.Ser2154Thr) c.7789T>A (p.Ser2597Thr) c.5992T>A (p.Ser1998Thr) | |
| 6 | g.7585051T>C | CA362693778 | DSP | c.6460T>C (p.Ser2154Pro) c.7789T>C (p.Ser2597Pro) c.5992T>C (p.Ser1998Pro) | gnomAD v4 |
| 6 | g.7585051T>G | CA362693779 | DSP | c.6460T>G (p.Ser2154Ala) c.7789T>G (p.Ser2597Ala) c.5992T>G (p.Ser1998Ala) | |
| 6 | g.7585052C>A | CA362693780 | DSP | c.6461C>A (p.Ser2154Tyr) c.7790C>A (p.Ser2597Tyr) c.5993C>A (p.Ser1998Tyr) | |
| 6 | g.7585052C>G | CA362693781 | DSP | c.6461C>G (p.Ser2154Cys) c.7790C>G (p.Ser2597Cys) c.5993C>G (p.Ser1998Cys) | |
| 6 | g.7585052C>T | CA362693782 | DSP | c.6461C>T (p.Ser2154Phe) c.7790C>T (p.Ser2597Phe) c.5993C>T (p.Ser1998Phe) | COSMIC |
| 6 | g.7585053C>A | CA448716522 | DSP | c.6462C>A (p.Ser2154=) c.7791C>A (p.Ser2597=) c.5994C>A (p.Ser1998=) | |
| 6 | g.7585053C>G | CA448716523 | DSP | c.6462C>G (p.Ser2154=) c.7791C>G (p.Ser2597=) c.5994C>G (p.Ser1998=) | gnomAD v4 |
| 6 | g.7585053C>T | CA448716525 | DSP | c.6462C>T (p.Ser2154=) c.7791C>T (p.Ser2597=) c.5994C>T (p.Ser1998=) | gnomAD v4 |
| 6 | g.7585054A= | CA1608613115 | DSP | c.6463A= (p.Ser2155=) c.7792A= (p.Ser2598=) c.5995A= (p.Ser1999=) | |
| 6 | g.7585054A>C | CA362693783 | DSP | c.6463A>C (p.Ser2155Arg) c.7792A>C (p.Ser2598Arg) c.5995A>C (p.Ser1999Arg) | |
| 6 | g.7585054A>G | CA362693785 | DSP | c.6463A>G (p.Ser2155Gly) c.7792A>G (p.Ser2598Gly) c.5995A>G (p.Ser1999Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585054A>T | CA362693784 | DSP | c.6463A>T (p.Ser2155Cys) c.7792A>T (p.Ser2598Cys) c.5995A>T (p.Ser1999Cys) | ClinVar dbSNP |
| 6 | g.7585055G>A | CA362693786 | DSP | c.6464G>A (p.Ser2155Asn) c.7793G>A (p.Ser2598Asn) c.5996G>A (p.Ser1999Asn) |