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.94479735C>A | CA382378557 | MRE11 | c.341G>T (p.Gly114Val) c.350G>T (p.Gly117Val) n.479-859G>T c.-128G>T (n.-128G>T) n.637G>T | dbSNP |
| 11 | g.94479735C= | CA1992438905 | MRE11 | c.341G= (p.Gly114=) c.350G= (p.Gly117=) n.479-859G= c.-128G= (n.-128G=) n.637G= | |
| 11 | g.94479735C>G | CA382378560 | MRE11 | c.341G>C (p.Gly114Ala) c.350G>C (p.Gly117Ala) n.479-859G>C c.-128G>C (n.-128G>C) n.637G>C | dbSNP |
| 11 | g.94479735C>T | CA382378562 | MRE11 | c.341G>A (p.Gly114Asp) c.350G>A (p.Gly117Asp) n.479-859G>A c.-128G>A (n.-128G>A) n.637G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.94479736C>A | CA382378565 | MRE11 | c.340G>T (p.Gly114Cys) c.349G>T (p.Gly117Cys) n.479-860G>T c.-129G>T (n.-129G>T) n.636G>T | gnomAD v3 gnomAD v4 |
| 11 | g.94479736C>G | CA382378570 | MRE11 | c.340G>C (p.Gly114Arg) c.349G>C (p.Gly117Arg) n.479-860G>C c.-129G>C (n.-129G>C) n.636G>C | dbSNP |
| 11 | g.94479736C>T | CA382378568 | MRE11 | c.340G>A (p.Gly114Ser) c.349G>A (p.Gly117Ser) n.479-860G>A c.-129G>A (n.-129G>A) n.636G>A | ClinVar |
| 11 | g.94479737A= | CA1992438923 | MRE11 | c.339T= (p.Asp113=) c.348T= (p.Asp116=) n.479-861T= c.-130T= (n.-130T=) n.635T= | |
| 11 | g.94479737A>C | CA382378572 | MRE11 | c.339T>G (p.Asp113Glu) c.348T>G (p.Asp116Glu) n.479-861T>G c.-130T>G (n.-130T>G) n.635T>G | |
| 11 | g.94479737A>G | CA10579413 | MRE11 | c.339T>C (p.Asp113=) c.348T>C (p.Asp116=) n.479-861T>C c.-130T>C (n.-130T>C) n.635T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.94479737A>T | CA382378575 | MRE11 | c.339T>A (p.Asp113Glu) c.348T>A (p.Asp116Glu) n.479-861T>A c.-130T>A (n.-130T>A) n.635T>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.94479738T>A | CA382378578 | MRE11 | c.338A>T (p.Asp113Val) c.347A>T (p.Asp116Val) n.479-862A>T c.-131A>T (n.-131A>T) n.634A>T | gnomAD v4 |
| 11 | g.94479738T>C | CA382378581 | MRE11 | c.338A>G (p.Asp113Gly) c.347A>G (p.Asp116Gly) n.479-862A>G c.-131A>G (n.-131A>G) n.634A>G | |
| 11 | g.94479738T>G | CA382378583 | MRE11 | c.338A>C (p.Asp113Ala) c.347A>C (p.Asp116Ala) n.479-862A>C c.-131A>C (n.-131A>C) n.634A>C | |
| 11 | g.94479739C>A | CA382378585 | MRE11 | c.337G>T (p.Asp113Tyr) c.346G>T (p.Asp116Tyr) n.479-863G>T c.-132G>T (n.-132G>T) n.633G>T | |
| 11 | g.94479739C= | CA1992438928 | MRE11 | c.337G= (p.Asp113=) c.346G= (p.Asp116=) n.479-863G= c.-132G= (n.-132G=) n.633G= | |
| 11 | g.94479739C>G | CA382378588 | MRE11 | c.337G>C (p.Asp113His) c.346G>C (p.Asp116His) n.479-863G>C c.-132G>C (n.-132G>C) n.633G>C | dbSNP |
| 11 | g.94479739C>T | CA10579414 | MRE11 | c.337G>A (p.Asp113Asn) c.346G>A (p.Asp116Asn) n.479-863G>A c.-132G>A (n.-132G>A) n.633G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.94479740T>A | CA382378592 | MRE11 | c.336A>T (p.Gln112His) c.345A>T (p.Gln115His) n.479-864A>T c.-133A>T (n.-133A>T) n.632A>T | |
| 11 | g.94479740T>C | CA10579415 | MRE11 | c.336A>G (p.Gln112=) c.345A>G (p.Gln115=) n.479-864A>G c.-133A>G (n.-133A>G) n.632A>G | ClinVar dbSNP |
| 11 | g.94479740T>G | CA226537896 | MRE11 | c.336A>C (p.Gln112His) c.345A>C (p.Gln115His) n.479-864A>C c.-133A>C (n.-133A>C) n.632A>C | ClinVar dbSNP |
| 11 | g.94479740T= | CA1992438935 | MRE11 | c.336A= (p.Gln112=) c.345A= (p.Gln115=) n.479-864A= c.-133A= (n.-133A=) n.632A= | |
| 11 | g.94479741T>A | CA382378598 | MRE11 | c.335A>T (p.Gln112Leu) c.344A>T (p.Gln115Leu) n.479-865A>T c.-134A>T (n.-134A>T) n.631A>T | dbSNP |
| 11 | g.94479741T>C | CA382378600 | MRE11 | c.335A>G (p.Gln112Arg) c.344A>G (p.Gln115Arg) n.479-865A>G c.-134A>G (n.-134A>G) n.631A>G | gnomAD v4 |
| 11 | g.94479741T>G | CA382378601 | MRE11 | c.335A>C (p.Gln112Pro) c.344A>C (p.Gln115Pro) n.479-865A>C c.-134A>C (n.-134A>C) n.631A>C | |
| 11 | g.94479742G>A | CA226537900 | MRE11 | c.334C>T (p.Gln112Ter) c.343C>T (p.Gln115Ter) n.479-866C>T c.-135C>T (n.-135C>T) n.630C>T | dbSNP |
| 11 | g.94479742G>C | CA382378603 | MRE11 | c.334C>G (p.Gln112Glu) c.343C>G (p.Gln115Glu) n.479-866C>G c.-135C>G (n.-135C>G) n.630C>G | ClinVar dbSNP |
| 11 | g.94479742G= | CA1992438943 | MRE11 | c.334C= (p.Gln112=) c.343C= (p.Gln115=) n.479-866C= c.-135C= (n.-135C=) n.630C= | |
| 11 | g.94479742G>T | CA382378605 | MRE11 | c.334C>A (p.Gln112Lys) c.343C>A (p.Gln115Lys) n.479-866C>A c.-135C>A (n.-135C>A) n.630C>A | |
| 11 | g.94479743A>C | CA382378608 | MRE11 | c.333T>G (p.Tyr111Ter) c.342T>G (p.Tyr114Ter) n.479-867T>G c.-136T>G (n.-136T>G) n.629T>G | |
| 11 | g.94479743A>G | CA476287044 | MRE11 | c.333T>C (p.Tyr111=) c.342T>C (p.Tyr114=) n.479-867T>C c.-136T>C (n.-136T>C) n.629T>C | dbSNP |
| 11 | g.94479743A>T | CA382378609 | MRE11 | c.333T>A (p.Tyr111Ter) c.342T>A (p.Tyr114Ter) n.479-867T>A c.-136T>A (n.-136T>A) n.629T>A | dbSNP gnomAD v4 |
| 11 | g.94479744T>A | CA382378612 | MRE11 | c.332A>T (p.Tyr111Phe) c.341A>T (p.Tyr114Phe) n.479-868A>T c.-137A>T (n.-137A>T) n.628A>T | dbSNP |
| 11 | g.94479744T>C | CA226537905 | MRE11 | c.332A>G (p.Tyr111Cys) c.341A>G (p.Tyr114Cys) n.479-868A>G c.-137A>G (n.-137A>G) n.628A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.94479744T>G | CA382378614 | MRE11 | c.332A>C (p.Tyr111Ser) c.341A>C (p.Tyr114Ser) n.479-868A>C c.-137A>C (n.-137A>C) n.628A>C | COSMIC COSMIC |
| 11 | g.94479744T= | CA1992438953 | MRE11 | c.332A= (p.Tyr111=) c.341A= (p.Tyr114=) n.479-868A= c.-137A= (n.-137A=) n.628A= | |
| 11 | g.94479745A= | CA1992438958 | MRE11 | c.331T= (p.Tyr111=) c.340T= (p.Tyr114=) n.479-869T= c.-138T= (n.-138T=) n.627T= | |
| 11 | g.94479745A>C | CA382378616 | MRE11 | c.331T>G (p.Tyr111Asp) c.340T>G (p.Tyr114Asp) n.479-869T>G c.-138T>G (n.-138T>G) n.627T>G | ClinVar dbSNP |
| 11 | g.94479745A>G | CA382378618 | MRE11 | c.331T>C (p.Tyr111His) c.340T>C (p.Tyr114His) n.479-869T>C c.-138T>C (n.-138T>C) n.627T>C | |
| 11 | g.94479745A>T | CA382378620 | MRE11 | c.331T>A (p.Tyr111Asn) c.340T>A (p.Tyr114Asn) n.479-869T>A c.-138T>A (n.-138T>A) n.627T>A | dbSNP |
| 11 | g.94479746del | CA2695198955 | MRE11 | c.330del (p.Tyr111IlefsTer?) c.339del (p.Tyr114IlefsTer?) c.330del (p.Asn110=) n.479-870del c.-139del (n.-139del) n.626del | ClinVar |
| 11 | g.94479746G>A | CA476287046 | MRE11 | c.330C>T (p.Asn110=) c.339C>T (p.Asn113=) n.479-870C>T c.-139C>T (n.-139C>T) n.626C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.94479746G>C | CA382378621 | MRE11 | c.330C>G (p.Asn110Lys) c.339C>G (p.Asn113Lys) n.479-870C>G c.-139C>G (n.-139C>G) n.626C>G | dbSNP |
| 11 | g.94479746G= | CA1992438978 | MRE11 | c.330C= (p.Asn110=) c.339C= (p.Asn113=) n.479-870C= c.-139C= (n.-139C=) n.626C= | |
| 11 | g.94479746G>T | CA382378624 | MRE11 | c.330C>A (p.Asn110Lys) c.339C>A (p.Asn113Lys) n.479-870C>A c.-139C>A (n.-139C>A) n.626C>A | |
| 11 | g.94479747T>A | CA382378627 | MRE11 | c.329A>T (p.Asn110Ile) c.338A>T (p.Asn113Ile) n.479-871A>T c.-140A>T (n.-140A>T) n.625A>T | dbSNP |
| 11 | g.94479747T>C | CA382378629 | MRE11 | c.329A>G (p.Asn110Ser) c.338A>G (p.Asn113Ser) n.479-871A>G c.-140A>G (n.-140A>G) n.625A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.94479747T>G | CA382378632 | MRE11 | c.329A>C (p.Asn110Thr) c.338A>C (p.Asn113Thr) n.479-871A>C c.-140A>C (n.-140A>C) n.625A>C | |
| 11 | g.94479747T= | CA1992438983 | MRE11 | c.329A= (p.Asn110=) c.338A= (p.Asn113=) n.479-871A= c.-140A= (n.-140A=) n.625A= | |
| 11 | g.94479748T>A | CA382378634 | MRE11 | c.328A>T (p.Asn110Tyr) c.337A>T (p.Asn113Tyr) n.479-872A>T c.-141A>T (n.-141A>T) n.624A>T |