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 |
|---|---|---|---|---|---|
| 5 | g.42711210del | CA2673724021 | GHR | c.622del (p.Asp208ThrfsTer4) c.556del (p.Asp186ThrfsTer4) c.*234del (n.*234del) c.643del (p.Asp215ThrfsTer4) c.577del (p.Asp193ThrfsTer4) | gnomAD v4 |
| 5 | g.42711210G>A | CA359695792 | GHR | c.622G>A (p.Asp208Asn) c.556G>A (p.Asp186Asn) c.*234G>A (n.*234G>A) c.643G>A (p.Asp215Asn) c.577G>A (p.Asp193Asn) | COSMIC |
| 5 | g.42711210G>C | CA359695793 | GHR | c.622G>C (p.Asp208His) c.556G>C (p.Asp186His) c.*234G>C (n.*234G>C) c.643G>C (p.Asp215His) c.577G>C (p.Asp193His) | |
| 5 | g.42711210G>T | CA359695794 | GHR | c.622G>T (p.Asp208Tyr) c.556G>T (p.Asp186Tyr) c.*234G>T (n.*234G>T) c.643G>T (p.Asp215Tyr) c.577G>T (p.Asp193Tyr) | gnomAD v4 |
| 5 | g.42711211A= | CA1542304744 | GHR | c.623A= (p.Asp208=) c.557A= (p.Asp186=) c.*235A= (n.*235A=) c.644A= (p.Asp215=) c.578A= (p.Asp193=) | |
| 5 | g.42711211A>C | CA359695795 | GHR | c.623A>C (p.Asp208Ala) c.557A>C (p.Asp186Ala) c.*235A>C (n.*235A>C) c.644A>C (p.Asp215Ala) c.578A>C (p.Asp193Ala) | |
| 5 | g.42711211A>G | CA359695796 | GHR | c.623A>G (p.Asp208Gly) c.557A>G (p.Asp186Gly) c.*235A>G (n.*235A>G) c.644A>G (p.Asp215Gly) c.578A>G (p.Asp193Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42711211A>T | CA359695797 | GHR | c.623A>T (p.Asp208Val) c.557A>T (p.Asp186Val) c.*235A>T (n.*235A>T) c.644A>T (p.Asp215Val) c.578A>T (p.Asp193Val) | |
| 5 | g.42711212C>A | CA359695799 | GHR | c.624C>A (p.Asp208Glu) c.558C>A (p.Asp186Glu) c.*236C>A (n.*236C>A) c.645C>A (p.Asp215Glu) c.579C>A (p.Asp193Glu) | |
| 5 | g.42711212C>G | CA359695798 | GHR | c.624C>G (p.Asp208Glu) c.558C>G (p.Asp186Glu) c.*236C>G (n.*236C>G) c.645C>G (p.Asp215Glu) c.579C>G (p.Asp193Glu) | |
| 5 | g.42711212C>T | CA443847411 | GHR | c.624C>T (p.Asp208=) c.558C>T (p.Asp186=) c.*236C>T (n.*236C>T) c.645C>T (p.Asp215=) c.579C>T (p.Asp193=) | |
| 5 | g.42711213C>A | CA359695800 | GHR | c.625C>A (p.Pro209Thr) c.559C>A (p.Pro187Thr) c.*237C>A (n.*237C>A) c.646C>A (p.Pro216Thr) c.580C>A (p.Pro194Thr) | |
| 5 | g.42711213C>G | CA359695801 | GHR | c.625C>G (p.Pro209Ala) c.559C>G (p.Pro187Ala) c.*237C>G (n.*237C>G) c.646C>G (p.Pro216Ala) c.580C>G (p.Pro194Ala) | |
| 5 | g.42711213C>T | CA359695802 | GHR | c.625C>T (p.Pro209Ser) c.559C>T (p.Pro187Ser) c.*237C>T (n.*237C>T) c.646C>T (p.Pro216Ser) c.580C>T (p.Pro194Ser) | |
| 5 | g.42711214C>A | CA359695803 | GHR | c.626C>A (p.Pro209His) c.560C>A (p.Pro187His) c.*238C>A (n.*238C>A) c.647C>A (p.Pro216His) c.581C>A (p.Pro194His) | |
| 5 | g.42711214C>G | CA359695804 | GHR | c.626C>G (p.Pro209Arg) c.560C>G (p.Pro187Arg) c.*238C>G (n.*238C>G) c.647C>G (p.Pro216Arg) c.581C>G (p.Pro194Arg) | |
| 5 | g.42711214C>T | CA359695805 | GHR | c.626C>T (p.Pro209Leu) c.560C>T (p.Pro187Leu) c.*238C>T (n.*238C>T) c.647C>T (p.Pro216Leu) c.581C>T (p.Pro194Leu) | gnomAD v4 |
| 5 | g.42711215T>A | CA443847427 | GHR | c.627T>A (p.Pro209=) c.561T>A (p.Pro187=) c.*239T>A (n.*239T>A) c.648T>A (p.Pro216=) c.582T>A (p.Pro194=) | |
| 5 | g.42711215T>C | CA443847425 | GHR | c.627T>C (p.Pro209=) c.561T>C (p.Pro187=) c.*239T>C (n.*239T>C) c.648T>C (p.Pro216=) c.582T>C (p.Pro194=) | gnomAD v4 |
| 5 | g.42711215T>G | CA443847426 | GHR | c.627T>G (p.Pro209=) c.561T>G (p.Pro187=) c.*239T>G (n.*239T>G) c.648T>G (p.Pro216=) c.582T>G (p.Pro194=) | |
| 5 | g.42711216A= | CA1542304749 | GHR | c.628A= (p.Ile210=) c.562A= (p.Ile188=) c.*240A= (n.*240A=) c.649A= (p.Ile217=) c.583A= (p.Ile195=) | |
| 5 | g.42711216A>C | CA359695807 | GHR | c.628A>C (p.Ile210Leu) c.562A>C (p.Ile188Leu) c.*240A>C (n.*240A>C) c.649A>C (p.Ile217Leu) c.583A>C (p.Ile195Leu) | |
| 5 | g.42711216A>G | CA3254459 | GHR | c.628A>G (p.Ile210Val) c.562A>G (p.Ile188Val) c.*240A>G (n.*240A>G) c.649A>G (p.Ile217Val) c.583A>G (p.Ile195Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42711216A>T | CA359695806 | GHR | c.628A>T (p.Ile210Leu) c.562A>T (p.Ile188Leu) c.*240A>T (n.*240A>T) c.649A>T (p.Ile217Leu) c.583A>T (p.Ile195Leu) | |
| 5 | g.42711217T>A | CA359695808 | GHR | c.629T>A (p.Ile210Lys) c.563T>A (p.Ile188Lys) c.*241T>A (n.*241T>A) c.650T>A (p.Ile217Lys) c.584T>A (p.Ile195Lys) | |
| 5 | g.42711217T>C | CA359695809 | GHR | c.629T>C (p.Ile210Thr) c.563T>C (p.Ile188Thr) c.*241T>C (n.*241T>C) c.650T>C (p.Ile217Thr) c.584T>C (p.Ile195Thr) | gnomAD v4 |
| 5 | g.42711217T>G | CA359695810 | GHR | c.629T>G (p.Ile210Arg) c.563T>G (p.Ile188Arg) c.*241T>G (n.*241T>G) c.650T>G (p.Ile217Arg) c.584T>G (p.Ile195Arg) | |
| 5 | g.42711218A>C | CA443847436 | GHR | c.630A>C (p.Ile210=) c.564A>C (p.Ile188=) c.*242A>C (n.*242A>C) c.651A>C (p.Ile217=) c.585A>C (p.Ile195=) | |
| 5 | g.42711218A>G | CA359695811 | GHR | c.630A>G (p.Ile210Met) c.564A>G (p.Ile188Met) c.*242A>G (n.*242A>G) c.651A>G (p.Ile217Met) c.585A>G (p.Ile195Met) | gnomAD v4 |
| 5 | g.42711218A>T | CA443847439 | GHR | c.630A>T (p.Ile210=) c.564A>T (p.Ile188=) c.*242A>T (n.*242A>T) c.651A>T (p.Ile217=) c.585A>T (p.Ile195=) | |
| 5 | g.42711219T>A | CA359695812 | GHR | c.631T>A (p.Leu211Met) c.565T>A (p.Leu189Met) c.*243T>A (n.*243T>A) c.652T>A (p.Leu218Met) c.586T>A (p.Leu196Met) | |
| 5 | g.42711219T>C | CA443847446 | GHR | c.631T>C (p.Leu211=) c.565T>C (p.Leu189=) c.*243T>C (n.*243T>C) c.652T>C (p.Leu218=) c.586T>C (p.Leu196=) | |
| 5 | g.42711219T>G | CA359695813 | GHR | c.631T>G (p.Leu211Val) c.565T>G (p.Leu189Val) c.*243T>G (n.*243T>G) c.652T>G (p.Leu218Val) c.586T>G (p.Leu196Val) | |
| 5 | g.42711220T>A | CA359695814 | GHR | c.632T>A (p.Leu211Ter) c.566T>A (p.Leu189Ter) c.*244T>A (n.*244T>A) c.653T>A (p.Leu218Ter) c.587T>A (p.Leu196Ter) | dbSNP |
| 5 | g.42711220T>C | CA359695816 | GHR | c.632T>C (p.Leu211Ser) c.566T>C (p.Leu189Ser) c.*244T>C (n.*244T>C) c.653T>C (p.Leu218Ser) c.587T>C (p.Leu196Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42711220T>G | CA359695815 | GHR | c.632T>G (p.Leu211Trp) c.566T>G (p.Leu189Trp) c.*244T>G (n.*244T>G) c.653T>G (p.Leu218Trp) c.587T>G (p.Leu196Trp) | |
| 5 | g.42711220T= | CA1542304754 | GHR | c.632T= (p.Leu211=) c.566T= (p.Leu189=) c.*244T= (n.*244T=) c.653T= (p.Leu218=) c.587T= (p.Leu196=) | |
| 5 | g.42711221G>A | CA443847456 | GHR | c.633G>A (p.Leu211=) c.567G>A (p.Leu189=) c.*245G>A (n.*245G>A) c.654G>A (p.Leu218=) c.588G>A (p.Leu196=) | |
| 5 | g.42711221G>C | CA359695817 | GHR | c.633G>C (p.Leu211Phe) c.567G>C (p.Leu189Phe) c.*245G>C (n.*245G>C) c.654G>C (p.Leu218Phe) c.588G>C (p.Leu196Phe) | |
| 5 | g.42711221G= | CA1542304758 | GHR | c.633G= (p.Leu211=) c.567G= (p.Leu189=) c.*245G= (n.*245G=) c.654G= (p.Leu218=) c.588G= (p.Leu196=) | |
| 5 | g.42711221G>T | CA118049493 | GHR | c.633G>T (p.Leu211Phe) c.567G>T (p.Leu189Phe) c.*245G>T (n.*245G>T) c.654G>T (p.Leu218Phe) c.588G>T (p.Leu196Phe) | dbSNP |
| 5 | g.42711222A>C | CA359695818 | GHR | c.634A>C (p.Thr212Pro) c.568A>C (p.Thr190Pro) c.*246A>C (n.*246A>C) c.655A>C (p.Thr219Pro) c.589A>C (p.Thr197Pro) | |
| 5 | g.42711222A>G | CA359695819 | GHR | c.634A>G (p.Thr212Ala) c.568A>G (p.Thr190Ala) c.*246A>G (n.*246A>G) c.655A>G (p.Thr219Ala) c.589A>G (p.Thr197Ala) | gnomAD v4 |
| 5 | g.42711222A>T | CA359695820 | GHR | c.634A>T (p.Thr212Ser) c.568A>T (p.Thr190Ser) c.*246A>T (n.*246A>T) c.655A>T (p.Thr219Ser) c.589A>T (p.Thr197Ser) | dbSNP |
| 5 | g.42711223C>A | CA359695821 | GHR | c.635C>A (p.Thr212Lys) c.569C>A (p.Thr190Lys) c.*247C>A (n.*247C>A) c.656C>A (p.Thr219Lys) c.590C>A (p.Thr197Lys) | |
| 5 | g.42711223C= | CA1542304761 | GHR | c.635C= (p.Thr212=) c.569C= (p.Thr190=) c.*247C= (n.*247C=) c.656C= (p.Thr219=) c.590C= (p.Thr197=) | |
| 5 | g.42711223C>G | CA359695822 | GHR | c.635C>G (p.Thr212Arg) c.569C>G (p.Thr190Arg) c.*247C>G (n.*247C>G) c.656C>G (p.Thr219Arg) c.590C>G (p.Thr197Arg) | |
| 5 | g.42711223C>T | CA3254460 | GHR | c.635C>T (p.Thr212Ile) c.569C>T (p.Thr190Ile) c.*247C>T (n.*247C>T) c.656C>T (p.Thr219Ile) c.590C>T (p.Thr197Ile) | dbSNP ExAC gnomAD v2 |
| 5 | g.42711224A>C | CA443847478 | GHR | c.636A>C (p.Thr212=) c.570A>C (p.Thr190=) c.*248A>C (n.*248A>C) c.657A>C (p.Thr219=) c.591A>C (p.Thr197=) | |
| 5 | g.42711224A>G | CA443847481 | GHR | c.636A>G (p.Thr212=) c.570A>G (p.Thr190=) c.*248A>G (n.*248A>G) c.657A>G (p.Thr219=) c.591A>G (p.Thr197=) |