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 |
|---|---|---|---|---|---|
| X | g.154903988_154903990delinsGAT | CA2466828161 | F8 | c.5914_5916delinsATC (p.Ile1972=) c.5809_5811delinsATC (p.Ile1937=) | |
| X | g.154903989_154903990del | CA873340712 | F8 | c.5914_5915del (p.Ile1972ProfsTer19) c.5809_5810del (p.Ile1937ProfsTer19) | ClinVar dbSNP |
| X | g.154903990del | CA2695237957 | F8 | c.5914del (p.Ile1972SerfsTer?) c.5809del (p.Ile1937SerfsTer?) | |
| X | g.154903990T>A | CA414906012 | F8 | c.5914A>T (p.Ile1972Phe) c.5809A>T (p.Ile1937Phe) | |
| X | g.154903990T>C | CA414906015 | F8 | c.5914A>G (p.Ile1972Val) c.5809A>G (p.Ile1937Val) | |
| X | g.154903990T>G | CA414906017 | F8 | c.5914A>C (p.Ile1972Leu) c.5809A>C (p.Ile1937Leu) | |
| X | g.154903991G>A | CA519356239 | F8 | c.5913C>T (p.Asn1971=) c.5808C>T (p.Asn1936=) | |
| X | g.154903991G>C | CA414906027 | F8 | c.5913C>G (p.Asn1971Lys) c.5808C>G (p.Asn1936Lys) | |
| X | g.154903991G>T | CA414906024 | F8 | c.5913C>A (p.Asn1971Lys) c.5808C>A (p.Asn1936Lys) | |
| X | g.154903992T>A | CA414906029 | F8 | c.5912A>T (p.Asn1971Ile) c.5807A>T (p.Asn1936Ile) | |
| X | g.154903992T>C | CA414906031 | F8 | c.5912A>G (p.Asn1971Ser) c.5807A>G (p.Asn1936Ser) | |
| X | g.154903992T>G | CA414906034 | F8 | c.5912A>C (p.Asn1971Thr) c.5807A>C (p.Asn1936Thr) | |
| X | g.154903993T>A | CA414906037 | F8 | c.5911A>T (p.Asn1971Tyr) c.5806A>T (p.Asn1936Tyr) | |
| X | g.154903993T>C | CA414906038 | F8 | c.5911A>G (p.Asn1971Asp) c.5806A>G (p.Asn1936Asp) | |
| X | g.154903993T>G | CA414906039 | F8 | c.5911A>C (p.Asn1971His) c.5806A>C (p.Asn1936His) | dbSNP |
| X | g.154903993T= | CA2466828163 | F8 | c.5911A= (p.Asn1971=) c.5806A= (p.Asn1936=) | |
| X | g.154903994T>A | CA414906040 | F8 | c.5910A>T (p.Glu1970Asp) c.5805A>T (p.Glu1935Asp) | |
| X | g.154903994T>C | CA519356243 | F8 | c.5910A>G (p.Glu1970=) c.5805A>G (p.Glu1935=) | |
| X | g.154903994T>G | CA414906041 | F8 | c.5910A>C (p.Glu1970Asp) c.5805A>C (p.Glu1935Asp) | |
| X | g.154903995T>A | CA414906043 | F8 | c.5909A>T (p.Glu1970Val) c.5804A>T (p.Glu1935Val) | |
| X | g.154903995T>C | CA414906044 | F8 | c.5909A>G (p.Glu1970Gly) c.5804A>G (p.Glu1935Gly) | |
| X | g.154903995T>G | CA414906047 | F8 | c.5909A>C (p.Glu1970Ala) c.5804A>C (p.Glu1935Ala) | |
| X | g.154903996C>A | CA414906049 | F8 | c.5908G>T (p.Glu1970Ter) c.5803G>T (p.Glu1935Ter) | |
| X | g.154903996C>G | CA414906050 | F8 | c.5908G>C (p.Glu1970Gln) c.5803G>C (p.Glu1935Gln) | |
| X | g.154903996C>T | CA414906048 | F8 | c.5908G>A (p.Glu1970Lys) c.5803G>A (p.Glu1935Lys) | |
| X | g.154903997A>C | CA414906054 | F8 | c.5907T>G (p.Asn1969Lys) c.5802T>G (p.Asn1934Lys) | |
| X | g.154903997A>G | CA519356246 | F8 | c.5907T>C (p.Asn1969=) c.5802T>C (p.Asn1934=) | |
| X | g.154903997A>T | CA414906051 | F8 | c.5907T>A (p.Asn1969Lys) c.5802T>A (p.Asn1934Lys) | |
| X | g.154903998T>A | CA414906056 | F8 | c.5906A>T (p.Asn1969Ile) c.5801A>T (p.Asn1934Ile) | |
| X | g.154903998T>C | CA414906058 | F8 | c.5906A>G (p.Asn1969Ser) c.5801A>G (p.Asn1934Ser) | gnomAD v4 |
| X | g.154903998T>G | CA414906062 | F8 | c.5906A>C (p.Asn1969Thr) c.5801A>C (p.Asn1934Thr) | |
| X | g.154903999T>A | CA414906063 | F8 | c.5905A>T (p.Asn1969Tyr) c.5800A>T (p.Asn1934Tyr) | |
| X | g.154903999T>C | CA414906064 | F8 | c.5905A>G (p.Asn1969Asp) c.5800A>G (p.Asn1934Asp) | |
| X | g.154903999T>G | CA414906065 | F8 | c.5905A>C (p.Asn1969His) c.5800A>C (p.Asn1934His) | |
| X | g.154904000G>A | CA519356250 | F8 | c.5904C>T (p.Ser1968=) c.5799C>T (p.Ser1933=) | |
| X | g.154904000G>C | CA414906067 | F8 | c.5904C>G (p.Ser1968Arg) c.5799C>G (p.Ser1933Arg) | |
| X | g.154904000G>T | CA414906071 | F8 | c.5904C>A (p.Ser1968Arg) c.5799C>A (p.Ser1933Arg) | gnomAD v4 |
| X | g.154904001C>A | CA414906073 | F8 | c.5903G>T (p.Ser1968Ile) c.5798G>T (p.Ser1933Ile) | |
| X | g.154904001C= | CA2466828164 | F8 | c.5903G= (p.Ser1968=) c.5798G= (p.Ser1933=) | |
| X | g.154904001C>G | CA414906078 | F8 | c.5903G>C (p.Ser1968Thr) c.5798G>C (p.Ser1933Thr) | |
| X | g.154904001C>T | CA337318263 | F8 | c.5903G>A (p.Ser1968Asn) c.5798G>A (p.Ser1933Asn) | ClinVar dbSNP COSMIC COSMIC |
| X | g.154904002T>A | CA414906093 | F8 | c.5902A>T (p.Ser1968Cys) c.5797A>T (p.Ser1933Cys) | |
| X | g.154904002T>C | CA414906101 | F8 | c.5902A>G (p.Ser1968Gly) c.5797A>G (p.Ser1933Gly) | |
| X | g.154904002T>G | CA414906098 | F8 | c.5902A>C (p.Ser1968Arg) c.5797A>C (p.Ser1933Arg) | |
| X | g.154904003G>A | CA519356253 | F8 | c.5901C>T (p.Gly1967=) c.5796C>T (p.Gly1932=) | gnomAD v4 |
| X | g.154904003G>C | CA519356255 | F8 | c.5901C>G (p.Gly1967=) c.5796C>G (p.Gly1932=) | |
| X | g.154904003G>T | CA519356256 | F8 | c.5901C>A (p.Gly1967=) c.5796C>A (p.Gly1932=) | |
| X | g.154904004C>A | CA414906106 | F8 | c.5900G>T (p.Gly1967Val) c.5795G>T (p.Gly1932Val) | |
| X | g.154904004C= | CA2466828165 | F8 | c.5900G= (p.Gly1967=) c.5795G= (p.Gly1932=) | |
| X | g.154904004C>G | CA414906108 | F8 | c.5900G>C (p.Gly1967Ala) c.5795G>C (p.Gly1932Ala) |