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.66870317_66870320del | CA2580084573 | PC | c.885_888del (p.Val296AsnfsTer?) n.290-20255_290-20252del c.765_768del (p.Val256AsnfsTer?) | ClinVar |
| 11 | g.66870319_66870320del | CA2614542595 | PC | c.887_888del (p.Val296GlufsTer4) n.290-20253_290-20252del c.767_768del (p.Val256GlufsTer4) | gnomAD v4 |
| 11 | g.66870319C>A | CA381501086 | PC | c.886G>T (p.Val296Leu) n.290-20254G>T c.766G>T (p.Val256Leu) | |
| 11 | g.66870319C>G | CA381501087 | PC | c.886G>C (p.Val296Leu) n.290-20254G>C c.766G>C (p.Val256Leu) | |
| 11 | g.66870319C>T | CA381501088 | PC | c.886G>A (p.Val296Met) n.290-20254G>A c.766G>A (p.Val256Met) | |
| 11 | g.66870320A= | CA1979902324 | PC | c.885T= (p.Ser295=) n.290-20255T= c.765T= (p.Ser255=) | |
| 11 | g.66870320A>C | CA475375909 | PC | c.885T>G (p.Ser295=) n.290-20255T>G c.765T>G (p.Ser255=) | |
| 11 | g.66870320A>G | CA475375911 | PC | c.885T>C (p.Ser295=) n.290-20255T>C c.765T>C (p.Ser255=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66870320A>T | CA475375910 | PC | c.885T>A (p.Ser295=) n.290-20255T>A c.765T>A (p.Ser255=) | |
| 11 | g.66870321G>A | CA381501090 | PC | c.884C>T (p.Ser295Phe) n.290-20256C>T c.764C>T (p.Ser255Phe) | |
| 11 | g.66870321G>C | CA381501091 | PC | c.884C>G (p.Ser295Cys) n.290-20256C>G c.764C>G (p.Ser255Cys) | |
| 11 | g.66870321G>T | CA381501089 | PC | c.884C>A (p.Ser295Tyr) n.290-20256C>A c.764C>A (p.Ser255Tyr) | |
| 11 | g.66870322A>C | CA381501092 | PC | c.883T>G (p.Ser295Ala) n.290-20257T>G c.763T>G (p.Ser255Ala) | gnomAD v4 |
| 11 | g.66870322A>G | CA381501093 | PC | c.883T>C (p.Ser295Pro) n.290-20257T>C c.763T>C (p.Ser255Pro) | |
| 11 | g.66870322A>T | CA381501094 | PC | c.883T>A (p.Ser295Thr) n.290-20257T>A c.763T>A (p.Ser255Thr) | |
| 11 | g.66870323G>A | CA475375912 | PC | c.882C>T (p.Asp294=) n.290-20258C>T c.762C>T (p.Asp254=) | |
| 11 | g.66870323G>C | CA381501095 | PC | c.882C>G (p.Asp294Glu) n.290-20258C>G c.762C>G (p.Asp254Glu) | |
| 11 | g.66870323G>T | CA381501096 | PC | c.882C>A (p.Asp294Glu) n.290-20258C>A c.762C>A (p.Asp254Glu) | gnomAD v4 |
| 11 | g.66870324T>A | CA381501099 | PC | c.881A>T (p.Asp294Val) n.290-20259A>T c.761A>T (p.Asp254Val) | |
| 11 | g.66870324T>C | CA381501098 | PC | c.881A>G (p.Asp294Gly) n.290-20259A>G c.761A>G (p.Asp254Gly) | |
| 11 | g.66870324T>G | CA381501097 | PC | c.881A>C (p.Asp294Ala) n.290-20259A>C c.761A>C (p.Asp254Ala) | |
| 11 | g.66870325C>A | CA381501100 | PC | c.880G>T (p.Asp294Tyr) n.290-20260G>T c.760G>T (p.Asp254Tyr) | gnomAD v4 |
| 11 | g.66870325C= | CA1979902328 | PC | c.880G= (p.Asp294=) n.290-20260G= c.760G= (p.Asp254=) | |
| 11 | g.66870325C>G | CA381501101 | PC | c.880G>C (p.Asp294His) n.290-20260G>C c.760G>C (p.Asp254His) | gnomAD v4 |
| 11 | g.66870325C>T | CA6132082 | PC | c.880G>A (p.Asp294Asn) n.290-20260G>A c.760G>A (p.Asp254Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66870326G>A | CA6132083 | PC | c.879C>T (p.Ser293=) n.290-20261C>T c.759C>T (p.Ser253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66870326G>C | CA381501102 | PC | c.879C>G (p.Ser293Arg) n.290-20261C>G c.759C>G (p.Ser253Arg) | |
| 11 | g.66870326G= | CA1979902331 | PC | c.879C= (p.Ser293=) n.290-20261C= c.759C= (p.Ser253=) | |
| 11 | g.66870326G>T | CA381501103 | PC | c.879C>A (p.Ser293Arg) n.290-20261C>A c.759C>A (p.Ser253Arg) | |
| 11 | g.66870327C>A | CA381501104 | PC | c.878G>T (p.Ser293Ile) n.290-20262G>T c.758G>T (p.Ser253Ile) | |
| 11 | g.66870327C>G | CA381501106 | PC | c.878G>C (p.Ser293Thr) n.290-20262G>C c.758G>C (p.Ser253Thr) | |
| 11 | g.66870327C>T | CA381501105 | PC | c.878G>A (p.Ser293Asn) n.290-20262G>A c.758G>A (p.Ser253Asn) | |
| 11 | g.66870328T>A | CA381501107 | PC | c.877A>T (p.Ser293Cys) n.290-20263A>T c.757A>T (p.Ser253Cys) | |
| 11 | g.66870328T>C | CA381501108 | PC | c.877A>G (p.Ser293Gly) n.290-20263A>G c.757A>G (p.Ser253Gly) | |
| 11 | g.66870328T>G | CA381501109 | PC | c.877A>C (p.Ser293Arg) n.290-20263A>C c.757A>C (p.Ser253Arg) | |
| 11 | g.66870329G>A | CA475375913 | PC | c.876C>T (p.Thr292=) n.290-20264C>T c.756C>T (p.Thr252=) | |
| 11 | g.66870329G>C | CA475375914 | PC | c.876C>G (p.Thr292=) n.290-20264C>G c.756C>G (p.Thr252=) | |
| 11 | g.66870329G>T | CA475375915 | PC | c.876C>A (p.Thr292=) n.290-20264C>A c.756C>A (p.Thr252=) | |
| 11 | g.66870330G>A | CA381501110 | PC | c.875C>T (p.Thr292Ile) n.290-20265C>T c.755C>T (p.Thr252Ile) | |
| 11 | g.66870330G>C | CA381501111 | PC | c.875C>G (p.Thr292Ser) n.290-20265C>G c.755C>G (p.Thr252Ser) | |
| 11 | g.66870330G= | CA1979902335 | PC | c.875C= (p.Thr292=) n.290-20265C= c.755C= (p.Thr252=) | |
| 11 | g.66870330G>T | CA6132084 | PC | c.875C>A (p.Thr292Asn) n.290-20265C>A c.755C>A (p.Thr252Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66870331T>A | CA381501112 | PC | c.874A>T (p.Thr292Ser) n.290-20266A>T c.754A>T (p.Thr252Ser) | gnomAD v4 |
| 11 | g.66870331T>C | CA381501113 | PC | c.874A>G (p.Thr292Ala) n.290-20266A>G c.754A>G (p.Thr252Ala) | |
| 11 | g.66870331T>G | CA381501114 | PC | c.874A>C (p.Thr292Pro) n.290-20266A>C c.754A>C (p.Thr252Pro) | dbSNP |
| 11 | g.66870331T= | CA1979902340 | PC | c.874A= (p.Thr292=) n.290-20266A= c.754A= (p.Thr252=) | |
| 11 | g.66870332G>A | CA475375916 | PC | c.873C>T (p.Leu291=) n.290-20267C>T c.753C>T (p.Leu251=) | |
| 11 | g.66870332G>C | CA475375917 | PC | c.873C>G (p.Leu291=) n.290-20267C>G c.753C>G (p.Leu251=) | |
| 11 | g.66870332G= | CA1979902345 | PC | c.873C= (p.Leu291=) n.290-20267C= c.753C= (p.Leu251=) | |
| 11 | g.66870332G>T | CA475375918 | PC | c.873C>A (p.Leu291=) n.290-20267C>A c.753C>A (p.Leu251=) | dbSNP gnomAD v2 gnomAD v4 |