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.153870409A= | CA2466507150 | L1CAM | c.785T= (p.Leu262=) c.770T= (p.Leu257=) | |
| X | g.153870409A>C | CA415133019 | L1CAM | c.785T>G (p.Leu262Arg) c.770T>G (p.Leu257Arg) | ClinVar dbSNP |
| X | g.153870409A>G | CA415133022 | L1CAM | c.785T>C (p.Leu262Pro) c.770T>C (p.Leu257Pro) | |
| X | g.153870409A>T | CA415133026 | L1CAM | c.785T>A (p.Leu262Gln) c.770T>A (p.Leu257Gln) | |
| X | g.153870409_153870416del | CA2695236875 | L1CAM | c.778_785del (p.Leu260GlyfsTer?) c.763_770del (p.Leu255GlyfsTer?) | |
| X | g.153870410G>A | CA519208822 | L1CAM | c.784C>T (p.Leu262=) c.769C>T (p.Leu257=) | dbSNP gnomAD v4 |
| X | g.153870410G>C | CA415133028 | L1CAM | c.784C>G (p.Leu262Val) c.769C>G (p.Leu257Val) | |
| X | g.153870410G= | CA2466507151 | L1CAM | c.784C= (p.Leu262=) c.769C= (p.Leu257=) | |
| X | g.153870410G>T | CA415133032 | L1CAM | c.784C>A (p.Leu262Met) c.769C>A (p.Leu257Met) | |
| X | g.153870411G>A | CA519208832 | L1CAM | c.783C>T (p.Val261=) c.768C>T (p.Val256=) | |
| X | g.153870411G>C | CA519208834 | L1CAM | c.783C>G (p.Val261=) c.768C>G (p.Val256=) | |
| X | g.153870411G>T | CA519208836 | L1CAM | c.783C>A (p.Val261=) c.768C>A (p.Val256=) | |
| X | g.153870412A>C | CA415133044 | L1CAM | c.782T>G (p.Val261Gly) c.767T>G (p.Val256Gly) | |
| X | g.153870412A>G | CA415133051 | L1CAM | c.782T>C (p.Val261Ala) c.767T>C (p.Val256Ala) | |
| X | g.153870412A>T | CA415133049 | L1CAM | c.782T>A (p.Val261Asp) c.767T>A (p.Val256Asp) | |
| X | g.153870413C>A | CA415133056 | L1CAM | c.781G>T (p.Val261Phe) c.766G>T (p.Val256Phe) | |
| X | g.153870413C= | CA2466507152 | L1CAM | c.781G= (p.Val261=) c.766G= (p.Val256=) | |
| X | g.153870413C>G | CA415133058 | L1CAM | c.781G>C (p.Val261Leu) c.766G>C (p.Val256Leu) | dbSNP |
| X | g.153870413C>T | CA415133062 | L1CAM | c.781G>A (p.Val261Ile) c.766G>A (p.Val256Ile) | |
| X | g.153870414C>A | CA415133065 | L1CAM | c.780G>T (p.Leu260Phe) c.765G>T (p.Leu255Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153870414C= | CA2466507153 | L1CAM | c.780G= (p.Leu260=) c.765G= (p.Leu255=) | |
| X | g.153870414C>G | CA415133067 | L1CAM | c.780G>C (p.Leu260Phe) c.765G>C (p.Leu255Phe) | |
| X | g.153870414C>T | CA519208854 | L1CAM | c.780G>A (p.Leu260=) c.765G>A (p.Leu255=) | dbSNP |
| X | g.153870415A>C | CA415133069 | L1CAM | c.779T>G (p.Leu260Trp) c.764T>G (p.Leu255Trp) | |
| X | g.153870415A>G | CA415133073 | L1CAM | c.779T>C (p.Leu260Ser) c.764T>C (p.Leu255Ser) | |
| X | g.153870415A>T | CA415133077 | L1CAM | c.779T>A (p.Leu260Ter) c.764T>A (p.Leu255Ter) | |
| X | g.153870416A>C | CA415133079 | L1CAM | c.778T>G (p.Leu260Val) c.763T>G (p.Leu255Val) | |
| X | g.153870416A>G | CA519208868 | L1CAM | c.778T>C (p.Leu260=) c.763T>C (p.Leu255=) | |
| X | g.153870416A>T | CA415133082 | L1CAM | c.778T>A (p.Leu260Met) c.763T>A (p.Leu255Met) | |
| X | g.153870417T>A | CA519208870 | L1CAM | c.777A>T (p.Pro259=) c.762A>T (p.Pro254=) | |
| X | g.153870417T>C | CA519208871 | L1CAM | c.777A>G (p.Pro259=) c.762A>G (p.Pro254=) | ClinVar |
| X | g.153870417T>G | CA519208872 | L1CAM | c.777A>C (p.Pro259=) c.762A>C (p.Pro254=) | |
| X | g.153870418G>A | CA415133085 | L1CAM | c.776C>T (p.Pro259Leu) c.761C>T (p.Pro254Leu) | |
| X | g.153870418G>C | CA415133090 | L1CAM | c.776C>G (p.Pro259Arg) c.761C>G (p.Pro254Arg) | |
| X | g.153870418G>T | CA415133087 | L1CAM | c.776C>A (p.Pro259Gln) c.761C>A (p.Pro254Gln) | |
| X | g.153870419del | CA2579733003 | L1CAM | c.776del (p.Pro259HisfsTer?) c.761del (p.Pro254HisfsTer?) | |
| X | g.153870419G>A | CA415133094 | L1CAM | c.775C>T (p.Pro259Ser) c.760C>T (p.Pro254Ser) | |
| X | g.153870419G>C | CA415133097 | L1CAM | c.775C>G (p.Pro259Ala) c.760C>G (p.Pro254Ala) | |
| X | g.153870419G>T | CA415133095 | L1CAM | c.775C>A (p.Pro259Thr) c.760C>A (p.Pro254Thr) | gnomAD v4 |
| X | g.153870419_153870476delinsCTGTCAATGT | CA2499226460 | L1CAM | c.718_775delinsACATTGACAG (p.Pro240_Pro259delinsThrLeuThrAla) c.703_760delinsACATTGACAG (p.Pro235_Pro254delinsThrLeuThrAla) | ClinVar dbSNP |
| X | g.153870420C>A | CA415133100 | L1CAM | c.774G>T (p.Gln258His) c.759G>T (p.Gln253His) | |
| X | g.153870420C= | CA2466507154 | L1CAM | c.774G= (p.Gln258=) c.759G= (p.Gln253=) | |
| X | g.153870420C>G | CA415133102 | L1CAM | c.774G>C (p.Gln258His) c.759G>C (p.Gln253His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153870420C>T | CA337263561 | L1CAM | c.774G>A (p.Gln258=) c.759G>A (p.Gln253=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.153870421T>A | CA415133104 | L1CAM | c.773A>T (p.Gln258Leu) c.758A>T (p.Gln253Leu) | |
| X | g.153870421T>C | CA415133107 | L1CAM | c.773A>G (p.Gln258Arg) c.758A>G (p.Gln253Arg) | |
| X | g.153870421T>G | CA415133110 | L1CAM | c.773A>C (p.Gln258Pro) c.758A>C (p.Gln253Pro) | |
| X | g.153870422G>A | CA415133113 | L1CAM | c.772C>T (p.Gln258Ter) c.757C>T (p.Gln253Ter) | |
| X | g.153870422G>C | CA415133114 | L1CAM | c.772C>G (p.Gln258Glu) c.757C>G (p.Gln253Glu) | dbSNP |
| X | g.153870422G= | CA2466507155 | L1CAM | c.772C= (p.Gln258=) c.757C= (p.Gln253=) |