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 |
|---|---|---|---|---|---|
| 11 | g.94445867_94445871delinsGGGTA | CA1992442027 | MRE11 | c.1806_1810delinsTACCC (p.Ser602=) c.1783+1348_1783+1352delinsTACCC (n.1783+1348_1783+1352delinsTACCC) c.1803_1807delinsTACCC (p.Ser601=) c.1815_1819delinsTACCC (p.Ser605=) n.102_106delinsTACCC c.1338_1342delinsTACCC (p.Ser446=) n.2102_2106delinsTACCC | |
| 11 | g.94445869_94445872del | CA915948775 | MRE11 | c.1806_1809del (p.Thr603ValfsTer18) c.1783+1348_1783+1351del (n.1783+1348_1783+1351del) c.1803_1806del (p.Thr602ValfsTer18) c.1815_1818del (p.Thr606ValfsTer18) n.102_105del c.1338_1341del (p.Thr447ValfsTer18) n.2102_2105del | ClinVar dbSNP |
| 11 | g.94445871A>C | CA476280102 | MRE11 | c.1806T>G (p.Ser602=) c.1783+1348T>G (n.1783+1348T>G) c.1803T>G (p.Ser601=) c.1815T>G (p.Ser605=) n.102T>G c.1338T>G (p.Ser446=) n.2102T>G | |
| 11 | g.94445871A>G | CA476280104 | MRE11 | c.1806T>C (p.Ser602=) c.1783+1348T>C (n.1783+1348T>C) c.1803T>C (p.Ser601=) c.1815T>C (p.Ser605=) n.102T>C c.1338T>C (p.Ser446=) n.2102T>C | ClinVar gnomAD v4 |
| 11 | g.94445871A>T | CA476280103 | MRE11 | c.1806T>A (p.Ser602=) c.1783+1348T>A (n.1783+1348T>A) c.1803T>A (p.Ser601=) c.1815T>A (p.Ser605=) n.102T>A c.1338T>A (p.Ser446=) n.2102T>A | |
| 11 | g.94445872G>A | CA382366797 | MRE11 | c.1805C>T (p.Ser602Phe) c.1783+1347C>T (n.1783+1347C>T) c.1802C>T (p.Ser601Phe) c.1814C>T (p.Ser605Phe) n.101C>T c.1337C>T (p.Ser446Phe) n.2101C>T | |
| 11 | g.94445872G>C | CA382366801 | MRE11 | c.1805C>G (p.Ser602Cys) c.1783+1347C>G (n.1783+1347C>G) c.1802C>G (p.Ser601Cys) c.1814C>G (p.Ser605Cys) n.101C>G c.1337C>G (p.Ser446Cys) n.2101C>G | |
| 11 | g.94445872G>T | CA382366799 | MRE11 | c.1805C>A (p.Ser602Tyr) c.1783+1347C>A (n.1783+1347C>A) c.1802C>A (p.Ser601Tyr) c.1814C>A (p.Ser605Tyr) n.101C>A c.1337C>A (p.Ser446Tyr) n.2101C>A | |
| 11 | g.94445873A>C | CA382366804 | MRE11 | c.1804T>G (p.Ser602Ala) c.1783+1346T>G (n.1783+1346T>G) c.1801T>G (p.Ser601Ala) c.1813T>G (p.Ser605Ala) n.100T>G c.1336T>G (p.Ser446Ala) n.2100T>G | |
| 11 | g.94445873A>G | CA382366808 | MRE11 | c.1804T>C (p.Ser602Pro) c.1783+1346T>C (n.1783+1346T>C) c.1801T>C (p.Ser601Pro) c.1813T>C (p.Ser605Pro) n.100T>C c.1336T>C (p.Ser446Pro) n.2100T>C | |
| 11 | g.94445873A>T | CA382366810 | MRE11 | c.1804T>A (p.Ser602Thr) c.1783+1346T>A (n.1783+1346T>A) c.1801T>A (p.Ser601Thr) c.1813T>A (p.Ser605Thr) n.100T>A c.1336T>A (p.Ser446Thr) n.2100T>A | |
| 11 | g.94445874A= | CA1992442058 | MRE11 | c.1803T= (p.Thr601=) c.1783+1345T= (n.1783+1345T=) c.1800T= (p.Thr600=) c.1812T= (p.Thr604=) n.99T= c.1335T= (p.Thr445=) n.2099T= | |
| 11 | g.94445874A>C | CA476280112 | MRE11 | c.1803T>G (p.Thr601=) c.1783+1345T>G (n.1783+1345T>G) c.1800T>G (p.Thr600=) c.1812T>G (p.Thr604=) n.99T>G c.1335T>G (p.Thr445=) n.2099T>G | ClinVar |
| 11 | g.94445874A>G | CA476280114 | MRE11 | c.1803T>C (p.Thr601=) c.1783+1345T>C (n.1783+1345T>C) c.1800T>C (p.Thr600=) c.1812T>C (p.Thr604=) n.99T>C c.1335T>C (p.Thr445=) n.2099T>C | gnomAD v4 |
| 11 | g.94445874A>T | CA476280116 | MRE11 | c.1803T>A (p.Thr601=) c.1783+1345T>A (n.1783+1345T>A) c.1800T>A (p.Thr600=) c.1812T>A (p.Thr604=) n.99T>A c.1335T>A (p.Thr445=) n.2099T>A | ClinVar dbSNP |
| 11 | g.94445875G>A | CA382366816 | MRE11 | c.1802C>T (p.Thr601Ile) c.1783+1344C>T (n.1783+1344C>T) c.1799C>T (p.Thr600Ile) c.1811C>T (p.Thr604Ile) n.98C>T c.1334C>T (p.Thr445Ile) n.2098C>T | gnomAD v4 |
| 11 | g.94445875G>C | CA382366818 | MRE11 | c.1802C>G (p.Thr601Ser) c.1783+1344C>G (n.1783+1344C>G) c.1799C>G (p.Thr600Ser) c.1811C>G (p.Thr604Ser) n.98C>G c.1334C>G (p.Thr445Ser) n.2098C>G | |
| 11 | g.94445875G>T | CA382366820 | MRE11 | c.1802C>A (p.Thr601Asn) c.1783+1344C>A (n.1783+1344C>A) c.1799C>A (p.Thr600Asn) c.1811C>A (p.Thr604Asn) n.98C>A c.1334C>A (p.Thr445Asn) n.2098C>A | gnomAD v4 |
| 11 | g.94445876T>A | CA382366823 | MRE11 | c.1801A>T (p.Thr601Ser) c.1783+1343A>T (n.1783+1343A>T) c.1798A>T (p.Thr600Ser) c.1810A>T (p.Thr604Ser) n.97A>T c.1333A>T (p.Thr445Ser) n.2097A>T | |
| 11 | g.94445876T>C | CA382366825 | MRE11 | c.1801A>G (p.Thr601Ala) c.1783+1343A>G (n.1783+1343A>G) c.1798A>G (p.Thr600Ala) c.1810A>G (p.Thr604Ala) n.97A>G c.1333A>G (p.Thr445Ala) n.2097A>G | |
| 11 | g.94445876T>G | CA382366826 | MRE11 | c.1801A>C (p.Thr601Pro) c.1783+1343A>C (n.1783+1343A>C) c.1798A>C (p.Thr600Pro) c.1810A>C (p.Thr604Pro) n.97A>C c.1333A>C (p.Thr445Pro) n.2097A>C | ClinVar dbSNP |
| 11 | g.94445876T= | CA1992442086 | MRE11 | c.1801A= (p.Thr601=) c.1783+1343A= (n.1783+1343A=) c.1798A= (p.Thr600=) c.1810A= (p.Thr604=) n.97A= c.1333A= (p.Thr445=) n.2097A= | |
| 11 | g.94445877C>A | CA16613646 | MRE11 | c.1800G>T (p.Glu600Asp) c.1783+1342G>T (n.1783+1342G>T) c.1797G>T (p.Glu599Asp) c.1809G>T (p.Glu603Asp) n.96G>T c.1332G>T (p.Glu444Asp) n.2096G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.94445877C= | CA1992442098 | MRE11 | c.1800G= (p.Glu600=) c.1783+1342G= (n.1783+1342G=) c.1797G= (p.Glu599=) c.1809G= (p.Glu603=) n.96G= c.1332G= (p.Glu444=) n.2096G= | |
| 11 | g.94445877C>G | CA382366827 | MRE11 | c.1800G>C (p.Glu600Asp) c.1783+1342G>C (n.1783+1342G>C) c.1797G>C (p.Glu599Asp) c.1809G>C (p.Glu603Asp) n.96G>C c.1332G>C (p.Glu444Asp) n.2096G>C | dbSNP |
| 11 | g.94445877C>T | CA476280123 | MRE11 | c.1800G>A (p.Glu600=) c.1783+1342G>A (n.1783+1342G>A) c.1797G>A (p.Glu599=) c.1809G>A (p.Glu603=) n.96G>A c.1332G>A (p.Glu444=) n.2096G>A | |
| 11 | g.94445878T>A | CA382366843 | MRE11 | c.1799A>T (p.Glu600Val) c.1783+1341A>T (n.1783+1341A>T) c.1796A>T (p.Glu599Val) c.1808A>T (p.Glu603Val) n.95A>T c.1331A>T (p.Glu444Val) n.2095A>T | |
| 11 | g.94445878T>C | CA16613441 | MRE11 | c.1799A>G (p.Glu600Gly) c.1783+1341A>G (n.1783+1341A>G) c.1796A>G (p.Glu599Gly) c.1808A>G (p.Glu603Gly) n.95A>G c.1331A>G (p.Glu444Gly) n.2095A>G | ClinVar dbSNP |
| 11 | g.94445878T>G | CA382366831 | MRE11 | c.1799A>C (p.Glu600Ala) c.1783+1341A>C (n.1783+1341A>C) c.1796A>C (p.Glu599Ala) c.1808A>C (p.Glu603Ala) n.95A>C c.1331A>C (p.Glu444Ala) n.2095A>C | |
| 11 | g.94445878T= | CA1992442124 | MRE11 | c.1799A= (p.Glu600=) c.1783+1341A= (n.1783+1341A=) c.1796A= (p.Glu599=) c.1808A= (p.Glu603=) n.95A= c.1331A= (p.Glu444=) n.2095A= | |
| 11 | g.94445879C>A | CA382366847 | MRE11 | c.1798G>T (p.Glu600Ter) c.1783+1340G>T (n.1783+1340G>T) c.1795G>T (p.Glu599Ter) c.1807G>T (p.Glu603Ter) n.94G>T c.1330G>T (p.Glu444Ter) n.2094G>T | |
| 11 | g.94445879C= | CA1992442144 | MRE11 | c.1798G= (p.Glu600=) c.1783+1340G= (n.1783+1340G=) c.1795G= (p.Glu599=) c.1807G= (p.Glu603=) n.94G= c.1330G= (p.Glu444=) n.2094G= | |
| 11 | g.94445879C>G | CA333269 | MRE11 | c.1798G>C (p.Glu600Gln) c.1783+1340G>C (n.1783+1340G>C) c.1795G>C (p.Glu599Gln) c.1807G>C (p.Glu603Gln) n.94G>C c.1330G>C (p.Glu444Gln) n.2094G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.94445879C>T | CA382366848 | MRE11 | c.1798G>A (p.Glu600Lys) c.1783+1340G>A (n.1783+1340G>A) c.1795G>A (p.Glu599Lys) c.1807G>A (p.Glu603Lys) n.94G>A c.1330G>A (p.Glu444Lys) n.2094G>A | |
| 11 | g.94445880del | CA2695198951 | MRE11 | c.1798del (p.Glu600ArgfsTer22) c.1783+1340del (n.1783+1340del) c.1795del (p.Glu599ArgfsTer22) c.1807del (p.Glu603ArgfsTer22) n.94del c.1330del (p.Glu444ArgfsTer22) n.2094del | ClinVar |
| 11 | g.94445880C>A | CA476280132 | MRE11 | c.1797G>T (p.Leu599=) c.1783+1339G>T (n.1783+1339G>T) c.1794G>T (p.Leu598=) c.1806G>T (p.Leu602=) n.93G>T c.1329G>T (p.Leu443=) n.2093G>T | |
| 11 | g.94445880C= | CA1992442150 | MRE11 | c.1797G= (p.Leu599=) c.1783+1339G= (n.1783+1339G=) c.1794G= (p.Leu598=) c.1806G= (p.Leu602=) n.93G= c.1329G= (p.Leu443=) n.2093G= | |
| 11 | g.94445880C>G | CA476280131 | MRE11 | c.1797G>C (p.Leu599=) c.1783+1339G>C (n.1783+1339G>C) c.1794G>C (p.Leu598=) c.1806G>C (p.Leu602=) n.93G>C c.1329G>C (p.Leu443=) n.2093G>C | |
| 11 | g.94445880C>T | CA6234986 | MRE11 | c.1797G>A (p.Leu599=) c.1783+1339G>A (n.1783+1339G>A) c.1794G>A (p.Leu598=) c.1806G>A (p.Leu602=) n.93G>A c.1329G>A (p.Leu443=) n.2093G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.94445881A>C | CA382366851 | MRE11 | c.1796T>G (p.Leu599Arg) c.1783+1338T>G (n.1783+1338T>G) c.1793T>G (p.Leu598Arg) c.1805T>G (p.Leu602Arg) n.92T>G c.1328T>G (p.Leu443Arg) n.2092T>G | |
| 11 | g.94445881A>G | CA382366854 | MRE11 | c.1796T>C (p.Leu599Pro) c.1783+1338T>C (n.1783+1338T>C) c.1793T>C (p.Leu598Pro) c.1805T>C (p.Leu602Pro) n.92T>C c.1328T>C (p.Leu443Pro) n.2092T>C | |
| 11 | g.94445881A>T | CA382366857 | MRE11 | c.1796T>A (p.Leu599Gln) c.1783+1338T>A (n.1783+1338T>A) c.1793T>A (p.Leu598Gln) c.1805T>A (p.Leu602Gln) n.92T>A c.1328T>A (p.Leu443Gln) n.2092T>A | |
| 11 | g.94445882G>A | CA476280136 | MRE11 | c.1795C>T (p.Leu599=) c.1783+1337C>T (n.1783+1337C>T) c.1792C>T (p.Leu598=) c.1804C>T (p.Leu602=) n.91C>T c.1327C>T (p.Leu443=) n.2091C>T | ClinVar dbSNP |
| 11 | g.94445882G>C | CA382366860 | MRE11 | c.1795C>G (p.Leu599Val) c.1783+1337C>G (n.1783+1337C>G) c.1792C>G (p.Leu598Val) c.1804C>G (p.Leu602Val) n.91C>G c.1327C>G (p.Leu443Val) n.2091C>G | |
| 11 | g.94445882G= | CA1992442155 | MRE11 | c.1795C= (p.Leu599=) c.1783+1337C= (n.1783+1337C=) c.1792C= (p.Leu598=) c.1804C= (p.Leu602=) n.91C= c.1327C= (p.Leu443=) n.2091C= | |
| 11 | g.94445882G>T | CA382366874 | MRE11 | c.1795C>A (p.Leu599Met) c.1783+1337C>A (n.1783+1337C>A) c.1792C>A (p.Leu598Met) c.1804C>A (p.Leu602Met) n.91C>A c.1327C>A (p.Leu443Met) n.2091C>A | |
| 11 | g.94445883A= | CA1992442159 | MRE11 | c.1794T= (p.Gly598=) c.1783+1336T= (n.1783+1336T=) c.1791T= (p.Gly597=) c.1803T= (p.Gly601=) n.90T= c.1326T= (p.Gly442=) n.2090T= | |
| 11 | g.94445883A>C | CA476280140 | MRE11 | c.1794T>G (p.Gly598=) c.1783+1336T>G (n.1783+1336T>G) c.1791T>G (p.Gly597=) c.1803T>G (p.Gly601=) n.90T>G c.1326T>G (p.Gly442=) n.2090T>G | dbSNP |
| 11 | g.94445883A>G | CA476280142 | MRE11 | c.1794T>C (p.Gly598=) c.1783+1336T>C (n.1783+1336T>C) c.1791T>C (p.Gly597=) c.1803T>C (p.Gly601=) n.90T>C c.1326T>C (p.Gly442=) n.2090T>C | ClinVar dbSNP |
| 11 | g.94445883A>T | CA476280143 | MRE11 | c.1794T>A (p.Gly598=) c.1783+1336T>A (n.1783+1336T>A) c.1791T>A (p.Gly597=) c.1803T>A (p.Gly601=) n.90T>A c.1326T>A (p.Gly442=) n.2090T>A |