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 |
|---|---|---|---|---|---|
| 1 | g.43349336_43349338delinsAGC | CA645528775 | MPL | c.1542_1544delinsAGC (p.Trp515Ala) c.1521_1523delinsAGC (p.Trp508Ala) n.1542_1544delinsAGC c.74_76delinsAGC c.1713_1715delinsAGC (p.Trp572Ala) | COSMIC |
| 1 | g.43349337_43349338delinsAA | CA123794 | MPL | c.1543_1544delinsAA (p.Trp515Lys) c.1522_1523delinsAA (p.Trp508Lys) n.1543_1544delinsAA c.75_76delinsAA c.1714_1715delinsAA (p.Trp572Lys) | ClinVar dbSNP COSMIC |
| 1 | g.43349337_43349338delinsGC | CA645528778 | MPL | c.1543_1544delinsGC (p.Trp515Ala) c.1522_1523delinsGC (p.Trp508Ala) n.1543_1544delinsGC c.75_76delinsGC c.1714_1715delinsGC (p.Trp572Ala) | ClinVar COSMIC |
| 1 | g.43349337_43349338delinsTG | CA1141580751 | MPL | c.1543_1544delinsTG (p.Trp515=) c.1522_1523delinsTG (p.Trp508=) n.1543_1544delinsTG c.75_76delinsTG c.1714_1715delinsTG (p.Trp572=) | |
| 1 | g.43349337_43349339delinsAAA | CA645528776 | MPL | c.1543_1545delinsAAA (p.Trp515Lys) c.1522_1524delinsAAA (p.Trp508Lys) n.1543_1545delinsAAA c.75_77delinsAAA c.1714_1716delinsAAA (p.Trp572Lys) | COSMIC |
| 1 | g.43349337_43349339delinsGCT | CA2695202311 | MPL | c.1543_1545delinsGCT (p.Trp515Ala) c.1522_1524delinsGCT (p.Trp508Ala) n.1543_1545delinsGCT c.75_77delinsGCT c.1714_1716delinsGCT (p.Trp572Ala) | |
| 1 | g.43349337_43349346delinsAAAA | CA645528777 | MPL | c.1543_1552delinsAAAA (p.Trp515_Pro518delinsLysThr) c.1522_1531delinsAAAA (p.Trp508_Pro511delinsLysThr) n.1543_1552delinsAAAA c.75_84delinsAAAA c.1714_1723delinsAAAA (p.Trp572_Pro575delinsLysThr) | COSMIC |
| 1 | g.43349338G>A | CA339988074 | MPL | c.1544G>A (p.Trp515Ter) c.1523G>A (p.Trp508Ter) n.1544G>A c.76G>A c.1715G>A (p.Trp572Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43349338G>C | CA21612475 | MPL | c.1544G>C (p.Trp515Ser) c.1523G>C (p.Trp508Ser) n.1544G>C c.76G>C c.1715G>C (p.Trp572Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.43349338G= | CA1141580752 | MPL | c.1544G= (p.Trp515=) c.1523G= (p.Trp508=) n.1544G= c.76G= c.1715G= (p.Trp572=) | |
| 1 | g.43349338G>T | CA123792 | MPL | c.1544G>T (p.Trp515Leu) c.1523G>T (p.Trp508Leu) n.1544G>T c.76G>T c.1715G>T (p.Trp572Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.43349339G>A | CA339988083 | MPL | c.1545G>A (p.Trp515Ter) c.1524G>A (p.Trp508Ter) n.1545G>A c.77G>A c.1716G>A (p.Trp572Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43349339G>C | CA339988084 | MPL | c.1545G>C (p.Trp515Cys) c.1524G>C (p.Trp508Cys) n.1545G>C c.77G>C c.1716G>C (p.Trp572Cys) | |
| 1 | g.43349339G= | CA1165580059 | MPL | c.1545G= (p.Trp515=) c.1524G= (p.Trp508=) n.1545G= c.77G= c.1716G= (p.Trp572=) | |
| 1 | g.43349339G>T | CA339988086 | MPL | c.1545G>T (p.Trp515Cys) c.1524G>T (p.Trp508Cys) n.1545G>T c.77G>T c.1716G>T (p.Trp572Cys) | dbSNP |
| 1 | g.43349339_43349340dup | CA2580062809 | MPL | c.1545_1546dup (p.Gln516ArgfsTer10) c.1524_1525dup (p.Gln509ArgfsTer10) n.1545_1546dup c.77_78dup c.1545_1546dup (p.Gln516ArgfsTer27) c.1545_1546dup (p.Gln516ArgfsTer?) c.1716_1717dup (p.Gln573ArgfsTer10) | ClinVar |
| 1 | g.43349340C>A | CA339988091 | MPL | c.1546C>A (p.Gln516Lys) c.1525C>A (p.Gln509Lys) n.1546C>A c.78C>A c.1717C>A (p.Gln573Lys) | |
| 1 | g.43349340C>G | CA339988099 | MPL | c.1546C>G (p.Gln516Glu) c.1525C>G (p.Gln509Glu) n.1546C>G c.78C>G c.1717C>G (p.Gln573Glu) | dbSNP gnomAD v4 |
| 1 | g.43349340C>T | CA339988093 | MPL | c.1546C>T (p.Gln516Ter) c.1525C>T (p.Gln509Ter) n.1546C>T c.78C>T c.1717C>T (p.Gln573Ter) | ClinVar dbSNP |
| 1 | g.43349341A>C | CA339988100 | MPL | c.1547A>C (p.Gln516Pro) c.1526A>C (p.Gln509Pro) n.1547A>C c.79A>C c.1718A>C (p.Gln573Pro) | |
| 1 | g.43349341A>G | CA339988101 | MPL | c.1547A>G (p.Gln516Arg) c.1526A>G (p.Gln509Arg) n.1547A>G c.79A>G c.1718A>G (p.Gln573Arg) | gnomAD v4 |
| 1 | g.43349341A>T | CA339988102 | MPL | c.1547A>T (p.Gln516Leu) c.1526A>T (p.Gln509Leu) n.1547A>T c.79A>T c.1718A>T (p.Gln573Leu) | |
| 1 | g.43349342G>A | CA417547222 | MPL | c.1548G>A (p.Gln516=) c.1527G>A (p.Gln509=) n.1548G>A c.80G>A c.1719G>A (p.Gln573=) | dbSNP |
| 1 | g.43349342G>C | CA339988105 | MPL | c.1548G>C (p.Gln516His) c.1527G>C (p.Gln509His) n.1548G>C c.80G>C c.1719G>C (p.Gln573His) | |
| 1 | g.43349342G= | CA1165580061 | MPL | c.1548G= (p.Gln516=) c.1527G= (p.Gln509=) n.1548G= c.80G= c.1719G= (p.Gln573=) | |
| 1 | g.43349342G>T | CA339988115 | MPL | c.1548G>T (p.Gln516His) c.1527G>T (p.Gln509His) n.1548G>T c.80G>T c.1719G>T (p.Gln573His) | |
| 1 | g.43349343T>A | CA339988119 | MPL | c.1549T>A (p.Phe517Ile) c.1528T>A (p.Phe510Ile) n.1549T>A c.81T>A c.1720T>A (p.Phe574Ile) | |
| 1 | g.43349343T>C | CA339988121 | MPL | c.1549T>C (p.Phe517Leu) c.1528T>C (p.Phe510Leu) n.1549T>C c.81T>C c.1720T>C (p.Phe574Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43349343T>G | CA339988118 | MPL | c.1549T>G (p.Phe517Val) c.1528T>G (p.Phe510Val) n.1549T>G c.81T>G c.1720T>G (p.Phe574Val) | |
| 1 | g.43349343T= | CA1165580062 | MPL | c.1549T= (p.Phe517=) c.1528T= (p.Phe510=) n.1549T= c.81T= c.1720T= (p.Phe574=) | |
| 1 | g.43349344T>A | CA339988158 | MPL | c.1550T>A (p.Phe517Tyr) c.1529T>A (p.Phe510Tyr) n.1550T>A c.82T>A c.1721T>A (p.Phe574Tyr) | |
| 1 | g.43349344T>C | CA339988136 | MPL | c.1550T>C (p.Phe517Ser) c.1529T>C (p.Phe510Ser) n.1550T>C c.82T>C c.1721T>C (p.Phe574Ser) | |
| 1 | g.43349344T>G | CA339988155 | MPL | c.1550T>G (p.Phe517Cys) c.1529T>G (p.Phe510Cys) n.1550T>G c.82T>G c.1721T>G (p.Phe574Cys) | |
| 1 | g.43349345T>A | CA339988166 | MPL | c.1551T>A (p.Phe517Leu) c.1530T>A (p.Phe510Leu) n.1551T>A c.83T>A c.1722T>A (p.Phe574Leu) | |
| 1 | g.43349345T>C | CA417547229 | MPL | c.1551T>C (p.Phe517=) c.1530T>C (p.Phe510=) n.1551T>C c.83T>C c.1722T>C (p.Phe574=) | |
| 1 | g.43349345T>G | CA339988170 | MPL | c.1551T>G (p.Phe517Leu) c.1530T>G (p.Phe510Leu) n.1551T>G c.83T>G c.1722T>G (p.Phe574Leu) | |
| 1 | g.43349346C>A | CA339988179 | MPL | c.1552C>A (p.Pro518Thr) c.1531C>A (p.Pro511Thr) n.1552C>A c.84C>A c.1723C>A (p.Pro575Thr) | |
| 1 | g.43349346C>G | CA339988185 | MPL | c.1552C>G (p.Pro518Ala) c.1531C>G (p.Pro511Ala) n.1552C>G c.84C>G c.1723C>G (p.Pro575Ala) | |
| 1 | g.43349346C>T | CA339988188 | MPL | c.1552C>T (p.Pro518Ser) c.1531C>T (p.Pro511Ser) n.1552C>T c.84C>T c.1723C>T (p.Pro575Ser) | |
| 1 | g.43349347C>A | CA339988198 | MPL | c.1553C>A (p.Pro518His) c.1532C>A (p.Pro511His) n.1553C>A c.85C>A c.1724C>A (p.Pro575His) | |
| 1 | g.43349347C>G | CA339988206 | MPL | c.1553C>G (p.Pro518Arg) c.1532C>G (p.Pro511Arg) n.1553C>G c.85C>G c.1724C>G (p.Pro575Arg) | |
| 1 | g.43349347C>T | CA339988201 | MPL | c.1553C>T (p.Pro518Leu) c.1532C>T (p.Pro511Leu) n.1553C>T c.85C>T c.1724C>T (p.Pro575Leu) | |
| 1 | g.43349348del | CA417547240 | MPL | c.1554del (p.Ala519HisfsTer6) c.1533del (p.Ala512HisfsTer6) n.1554del c.86del c.1554del (p.Ala519HisfsTer23) c.1554del (p.Ala519HisfsTer?) c.1725del (p.Ala576HisfsTer6) | |
| 1 | g.43349348T>A | CA417547235 | MPL | c.1554T>A (p.Pro518=) c.1533T>A (p.Pro511=) n.1554T>A c.86T>A c.1725T>A (p.Pro575=) | |
| 1 | g.43349348T>C | CA417547238 | MPL | c.1554T>C (p.Pro518=) c.1533T>C (p.Pro511=) n.1554T>C c.86T>C c.1725T>C (p.Pro575=) | |
| 1 | g.43349348T>G | CA806931 | MPL | c.1554T>G (p.Pro518=) c.1533T>G (p.Pro511=) n.1554T>G c.86T>G c.1725T>G (p.Pro575=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43349348T= | CA1165580064 | MPL | c.1554T= (p.Pro518=) c.1533T= (p.Pro511=) n.1554T= c.86T= c.1725T= (p.Pro575=) | |
| 1 | g.43349349G>A | CA339988223 | MPL | c.1555G>A (p.Ala519Thr) c.1534G>A (p.Ala512Thr) n.1555G>A c.87G>A c.1726G>A (p.Ala576Thr) | dbSNP gnomAD v4 COSMIC |
| 1 | g.43349349G>C | CA339988226 | MPL | c.1555G>C (p.Ala519Pro) c.1534G>C (p.Ala512Pro) n.1555G>C c.87G>C c.1726G>C (p.Ala576Pro) | |
| 1 | g.43349349G>T | CA339988230 | MPL | c.1555G>T (p.Ala519Ser) c.1534G>T (p.Ala512Ser) n.1555G>T c.87G>T c.1726G>T (p.Ala576Ser) |