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.66870309G>A | CA381501064 | PC | c.896C>T (p.Ala299Val) n.290-20244C>T c.776C>T (p.Ala259Val) | |
| 11 | g.66870309G>C | CA381501066 | PC | c.896C>G (p.Ala299Gly) n.290-20244C>G c.776C>G (p.Ala259Gly) | |
| 11 | g.66870309G>T | CA381501065 | PC | c.896C>A (p.Ala299Asp) n.290-20244C>A c.776C>A (p.Ala259Asp) | |
| 11 | g.66870310C>A | CA381501067 | PC | c.895G>T (p.Ala299Ser) n.290-20245G>T c.775G>T (p.Ala259Ser) | dbSNP |
| 11 | g.66870310C= | CA1979902297 | PC | c.895G= (p.Ala299=) n.290-20245G= c.775G= (p.Ala259=) | |
| 11 | g.66870310C>G | CA381501068 | PC | c.895G>C (p.Ala299Pro) n.290-20245G>C c.775G>C (p.Ala259Pro) | |
| 11 | g.66870310C>T | CA6132080 | PC | c.895G>A (p.Ala299Thr) n.290-20245G>A c.775G>A (p.Ala259Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66870311G>A | CA6132081 | PC | c.894C>T (p.Leu298=) n.290-20246C>T c.774C>T (p.Leu258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66870311G>C | CA475375903 | PC | c.894C>G (p.Leu298=) n.290-20246C>G c.774C>G (p.Leu258=) | ClinVar |
| 11 | g.66870311G= | CA1979902303 | PC | c.894C= (p.Leu298=) n.290-20246C= c.774C= (p.Leu258=) | |
| 11 | g.66870311G>T | CA475375904 | PC | c.894C>A (p.Leu298=) n.290-20246C>A c.774C>A (p.Leu258=) | |
| 11 | g.66870312A>C | CA381501069 | PC | c.893T>G (p.Leu298Arg) n.290-20247T>G c.773T>G (p.Leu258Arg) | |
| 11 | g.66870312A>G | CA381501070 | PC | c.893T>C (p.Leu298Pro) n.290-20247T>C c.773T>C (p.Leu258Pro) | |
| 11 | g.66870312A>T | CA381501071 | PC | c.893T>A (p.Leu298His) n.290-20247T>A c.773T>A (p.Leu258His) | |
| 11 | g.66870313G>A | CA381501072 | PC | c.892C>T (p.Leu298Phe) n.290-20248C>T c.772C>T (p.Leu258Phe) | dbSNP |
| 11 | g.66870313G>C | CA381501073 | PC | c.892C>G (p.Leu298Val) n.290-20248C>G c.772C>G (p.Leu258Val) | |
| 11 | g.66870313G= | CA1979902305 | PC | c.892C= (p.Leu298=) n.290-20248C= c.772C= (p.Leu258=) | |
| 11 | g.66870313G>T | CA381501074 | PC | c.892C>A (p.Leu298Ile) n.290-20248C>A c.772C>A (p.Leu258Ile) | gnomAD v4 |
| 11 | g.66870314T>A | CA381501075 | PC | c.891A>T (p.Lys297Asn) n.290-20249A>T c.771A>T (p.Lys257Asn) | |
| 11 | g.66870314T>C | CA475375905 | PC | c.891A>G (p.Lys297=) n.290-20249A>G c.771A>G (p.Lys257=) | |
| 11 | g.66870314T>G | CA381501076 | PC | c.891A>C (p.Lys297Asn) n.290-20249A>C c.771A>C (p.Lys257Asn) | |
| 11 | g.66870315T>A | CA381501077 | PC | c.890A>T (p.Lys297Ile) n.290-20250A>T c.770A>T (p.Lys257Ile) | |
| 11 | g.66870315T>C | CA381501079 | PC | c.890A>G (p.Lys297Arg) n.290-20250A>G c.770A>G (p.Lys257Arg) | |
| 11 | g.66870315T>G | CA381501078 | PC | c.890A>C (p.Lys297Thr) n.290-20250A>C c.770A>C (p.Lys257Thr) | |
| 11 | g.66870316T>A | CA381501080 | PC | c.889A>T (p.Lys297Ter) n.290-20251A>T c.769A>T (p.Lys257Ter) | |
| 11 | g.66870316T>C | CA381501081 | PC | c.889A>G (p.Lys297Glu) n.290-20251A>G c.769A>G (p.Lys257Glu) | |
| 11 | g.66870316T>G | CA381501082 | PC | c.889A>C (p.Lys297Gln) n.290-20251A>C c.769A>C (p.Lys257Gln) | |
| 11 | g.66870317C>A | CA475375908 | PC | c.888G>T (p.Val296=) n.290-20252G>T c.768G>T (p.Val256=) | |
| 11 | g.66870317C= | CA1979902310 | PC | c.888G= (p.Val296=) n.290-20252G= c.768G= (p.Val256=) | |
| 11 | g.66870317C>G | CA475375907 | PC | c.888G>C (p.Val296=) n.290-20252G>C c.768G>C (p.Val256=) | |
| 11 | g.66870317C>T | CA475375906 | PC | c.888G>A (p.Val296=) n.290-20252G>A c.768G>A (p.Val256=) | ClinVar dbSNP gnomAD v4 |
| 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.66870318A>C | CA381501083 | PC | c.887T>G (p.Val296Gly) n.290-20253T>G c.767T>G (p.Val256Gly) | |
| 11 | g.66870318A>G | CA381501084 | PC | c.887T>C (p.Val296Ala) n.290-20253T>C c.767T>C (p.Val256Ala) | |
| 11 | g.66870318A>T | CA381501085 | PC | c.887T>A (p.Val296Glu) n.290-20253T>A c.767T>A (p.Val256Glu) | |
| 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=) |