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.7584407_7584423del | CA2677219518 | DSP | c.5816_5832del (p.Glu1939GlyfsTer2) c.7145_7161del (p.Glu2382GlyfsTer2) c.5348_5364del (p.Glu1783GlyfsTer2) | gnomAD v4 |
| 6 | g.7584418T>A | CA362692359 | DSP | c.5827T>A (p.Leu1943Ile) c.7156T>A (p.Leu2386Ile) c.5359T>A (p.Leu1787Ile) | |
| 6 | g.7584418T>C | CA448716536 | DSP | c.5827T>C (p.Leu1943=) c.7156T>C (p.Leu2386=) c.5359T>C (p.Leu1787=) | gnomAD v4 |
| 6 | g.7584418T>G | CA362692360 | DSP | c.5827T>G (p.Leu1943Val) c.7156T>G (p.Leu2386Val) c.5359T>G (p.Leu1787Val) | |
| 6 | g.7584419T>A | CA362692361 | DSP | c.5828T>A (p.Leu1943Ter) c.7157T>A (p.Leu2386Ter) c.5360T>A (p.Leu1787Ter) | |
| 6 | g.7584419T>C | CA362692362 | DSP | c.5828T>C (p.Leu1943Ser) c.7157T>C (p.Leu2386Ser) c.5360T>C (p.Leu1787Ser) | gnomAD v4 |
| 6 | g.7584419T>G | CA362692363 | DSP | c.5828T>G (p.Leu1943Ter) c.7157T>G (p.Leu2386Ter) c.5360T>G (p.Leu1787Ter) | |
| 6 | g.7584420A>C | CA362692364 | DSP | c.5829A>C (p.Leu1943Phe) c.7158A>C (p.Leu2386Phe) c.5361A>C (p.Leu1787Phe) | |
| 6 | g.7584420A>G | CA448716543 | DSP | c.5829A>G (p.Leu1943=) c.7158A>G (p.Leu2386=) c.5361A>G (p.Leu1787=) | |
| 6 | g.7584420A>T | CA362692365 | DSP | c.5829A>T (p.Leu1943Phe) c.7158A>T (p.Leu2386Phe) c.5361A>T (p.Leu1787Phe) | |
| 6 | g.7584421C>A | CA362692366 | DSP | c.5830C>A (p.Pro1944Thr) c.7159C>A (p.Pro2387Thr) c.5362C>A (p.Pro1788Thr) | |
| 6 | g.7584421C>G | CA362692369 | DSP | c.5830C>G (p.Pro1944Ala) c.7159C>G (p.Pro2387Ala) c.5362C>G (p.Pro1788Ala) | |
| 6 | g.7584421C>T | CA362692367 | DSP | c.5830C>T (p.Pro1944Ser) c.7159C>T (p.Pro2387Ser) c.5362C>T (p.Pro1788Ser) | |
| 6 | g.7584422C>A | CA362692370 | DSP | c.5831C>A (p.Pro1944Gln) c.7160C>A (p.Pro2387Gln) c.5363C>A (p.Pro1788Gln) | |
| 6 | g.7584422C= | CA1608611132 | DSP | c.5831C= (p.Pro1944=) c.7160C= (p.Pro2387=) c.5363C= (p.Pro1788=) | |
| 6 | g.7584422C>G | CA362692371 | DSP | c.5831C>G (p.Pro1944Arg) c.7160C>G (p.Pro2387Arg) c.5363C>G (p.Pro1788Arg) | |
| 6 | g.7584422C>T | CA049230 | DSP | c.5831C>T (p.Pro1944Leu) c.7160C>T (p.Pro2387Leu) c.5363C>T (p.Pro1788Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584423A>C | CA448716561 | DSP | c.5832A>C (p.Pro1944=) c.7161A>C (p.Pro2387=) c.5364A>C (p.Pro1788=) | |
| 6 | g.7584423A>G | CA448716562 | DSP | c.5832A>G (p.Pro1944=) c.7161A>G (p.Pro2387=) c.5364A>G (p.Pro1788=) | |
| 6 | g.7584423A>T | CA448716564 | DSP | c.5832A>T (p.Pro1944=) c.7161A>T (p.Pro2387=) c.5364A>T (p.Pro1788=) | |
| 6 | g.7584424G>A | CA049243 | DSP | c.5833G>A (p.Val1945Ile) c.7162G>A (p.Val2388Ile) c.5365G>A (p.Val1789Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584424G>C | CA362692372 | DSP | c.5833G>C (p.Val1945Leu) c.7162G>C (p.Val2388Leu) c.5365G>C (p.Val1789Leu) | |
| 6 | g.7584424G= | CA1608611139 | DSP | c.5833G= (p.Val1945=) c.7162G= (p.Val2388=) c.5365G= (p.Val1789=) | |
| 6 | g.7584424G>T | CA362692373 | DSP | c.5833G>T (p.Val1945Phe) c.7162G>T (p.Val2388Phe) c.5365G>T (p.Val1789Phe) | |
| 6 | g.7584425T>A | CA362692374 | DSP | c.5834T>A (p.Val1945Asp) c.7163T>A (p.Val2388Asp) c.5366T>A (p.Val1789Asp) | |
| 6 | g.7584425T>C | CA362692375 | DSP | c.5834T>C (p.Val1945Ala) c.7163T>C (p.Val2388Ala) c.5366T>C (p.Val1789Ala) | ClinVar |
| 6 | g.7584425T>G | CA362692376 | DSP | c.5834T>G (p.Val1945Gly) c.7163T>G (p.Val2388Gly) c.5366T>G (p.Val1789Gly) | |
| 6 | g.7584426T>A | CA448716575 | DSP | c.5835T>A (p.Val1945=) c.7164T>A (p.Val2388=) c.5367T>A (p.Val1789=) | |
| 6 | g.7584426T>C | CA448716576 | DSP | c.5835T>C (p.Val1945=) c.7164T>C (p.Val2388=) c.5367T>C (p.Val1789=) | |
| 6 | g.7584426T>G | CA448716578 | DSP | c.5835T>G (p.Val1945=) c.7164T>G (p.Val2388=) c.5367T>G (p.Val1789=) | |
| 6 | g.7584427G>A | CA362692377 | DSP | c.5836G>A (p.Asp1946Asn) c.7165G>A (p.Asp2389Asn) c.5368G>A (p.Asp1790Asn) | |
| 6 | g.7584427G>C | CA362692378 | DSP | c.5836G>C (p.Asp1946His) c.7165G>C (p.Asp2389His) c.5368G>C (p.Asp1790His) | |
| 6 | g.7584427G>T | CA362692379 | DSP | c.5836G>T (p.Asp1946Tyr) c.7165G>T (p.Asp2389Tyr) c.5368G>T (p.Asp1790Tyr) | |
| 6 | g.7584428A>C | CA362692380 | DSP | c.5837A>C (p.Asp1946Ala) c.7166A>C (p.Asp2389Ala) c.5369A>C (p.Asp1790Ala) | |
| 6 | g.7584428A>G | CA362692382 | DSP | c.5837A>G (p.Asp1946Gly) c.7166A>G (p.Asp2389Gly) c.5369A>G (p.Asp1790Gly) | |
| 6 | g.7584428A>T | CA362692381 | DSP | c.5837A>T (p.Asp1946Val) c.7166A>T (p.Asp2389Val) c.5369A>T (p.Asp1790Val) | |
| 6 | g.7584429C>A | CA362692383 | DSP | c.5838C>A (p.Asp1946Glu) c.7167C>A (p.Asp2389Glu) c.5370C>A (p.Asp1790Glu) | |
| 6 | g.7584429C>G | CA362692384 | DSP | c.5838C>G (p.Asp1946Glu) c.7167C>G (p.Asp2389Glu) c.5370C>G (p.Asp1790Glu) | |
| 6 | g.7584429C>T | CA448716590 | DSP | c.5838C>T (p.Asp1946=) c.7167C>T (p.Asp2389=) c.5370C>T (p.Asp1790=) | ClinVar dbSNP |
| 6 | g.7584429_7584431delinsCAT | CA1608611146 | DSP | c.5838_5840delinsCAT (p.Asp1946=) c.7167_7169delinsCAT (p.Asp2389=) c.5370_5372delinsCAT (p.Asp1790=) | |
| 6 | g.7584430A= | CA1608611153 | DSP | c.5839A= (p.Ile1947=) c.7168A= (p.Ile2390=) c.5371A= (p.Ile1791=) | |
| 6 | g.7584430A>C | CA362692385 | DSP | c.5839A>C (p.Ile1947Leu) c.7168A>C (p.Ile2390Leu) c.5371A>C (p.Ile1791Leu) | |
| 6 | g.7584430A>G | CA362692386 | DSP | c.5839A>G (p.Ile1947Val) c.7168A>G (p.Ile2390Val) c.5371A>G (p.Ile1791Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584430A>T | CA362692387 | DSP | c.5839A>T (p.Ile1947Leu) c.7168A>T (p.Ile2390Leu) c.5371A>T (p.Ile1791Leu) | |
| 6 | g.7584431_7584432del | CA1085706702 | DSP | c.5840_5841del (p.Ile1947SerfsTer3) c.7169_7170del (p.Ile2390SerfsTer3) c.5372_5373del (p.Ile1791SerfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584431T>A | CA362692388 | DSP | c.5840T>A (p.Ile1947Lys) c.7169T>A (p.Ile2390Lys) c.5372T>A (p.Ile1791Lys) |