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.154997069_154997074del | CA2695238489 | F8 | c.290_295del (p.Ala97_Glu98del) c.*76_*81del (n.*76_*81del) c.185_190del (p.Ala62_Glu63del) c.272_277del (p.Ala91_Glu92del) | |
| X | g.154997070A>C | CA519384156 | F8 | c.291T>G (p.Ala97=) c.*77T>G (n.*77T>G) c.186T>G (p.Ala62=) c.273T>G (p.Ala91=) | gnomAD v4 |
| X | g.154997070A>G | CA519384158 | F8 | c.291T>C (p.Ala97=) c.*77T>C (n.*77T>C) c.186T>C (p.Ala62=) c.273T>C (p.Ala91=) | |
| X | g.154997070A>T | CA519384157 | F8 | c.291T>A (p.Ala97=) c.*77T>A (n.*77T>A) c.186T>A (p.Ala62=) c.273T>A (p.Ala91=) | |
| X | g.154997071G>A | CA414920080 | F8 | c.290C>T (p.Ala97Val) c.*76C>T (n.*76C>T) c.185C>T (p.Ala62Val) c.272C>T (p.Ala91Val) | |
| X | g.154997071G>C | CA414920082 | F8 | c.290C>G (p.Ala97Gly) c.*76C>G (n.*76C>G) c.185C>G (p.Ala62Gly) c.272C>G (p.Ala91Gly) | |
| X | g.154997071G>T | CA414920081 | F8 | c.290C>A (p.Ala97Asp) c.*76C>A (n.*76C>A) c.185C>A (p.Ala62Asp) c.272C>A (p.Ala91Asp) | |
| X | g.154997072C>A | CA414920083 | F8 | c.289G>T (p.Ala97Ser) c.*75G>T (n.*75G>T) c.184G>T (p.Ala62Ser) c.271G>T (p.Ala91Ser) | |
| X | g.154997072C= | CA2466857795 | F8 | c.289G= (p.Ala97=) c.*75G= (n.*75G=) c.184G= (p.Ala62=) c.271G= (p.Ala91=) | |
| X | g.154997072C>G | CA414920085 | F8 | c.289G>C (p.Ala97Pro) c.*75G>C (n.*75G>C) c.184G>C (p.Ala62Pro) c.271G>C (p.Ala91Pro) | dbSNP |
| X | g.154997072C>T | CA414920084 | F8 | c.289G>A (p.Ala97Thr) c.*75G>A (n.*75G>A) c.184G>A (p.Ala62Thr) c.271G>A (p.Ala91Thr) | |
| X | g.154997073C>A | CA414920086 | F8 | c.288G>T (p.Gln96His) c.*74G>T (n.*74G>T) c.183G>T (p.Gln61His) c.270G>T (p.Gln90His) | |
| X | g.154997073C= | CA2466857796 | F8 | c.288G= (p.Gln96=) c.*74G= (n.*74G=) c.183G= (p.Gln61=) c.270G= (p.Gln90=) | |
| X | g.154997073C>G | CA414920087 | F8 | c.288G>C (p.Gln96His) c.*74G>C (n.*74G>C) c.183G>C (p.Gln61His) c.270G>C (p.Gln90His) | |
| X | g.154997073C>T | CA519384159 | F8 | c.288G>A (p.Gln96=) c.*74G>A (n.*74G>A) c.183G>A (p.Gln61=) c.270G>A (p.Gln90=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154997074T>A | CA414920088 | F8 | c.287A>T (p.Gln96Leu) c.*73A>T (n.*73A>T) c.182A>T (p.Gln61Leu) c.269A>T (p.Gln90Leu) | |
| X | g.154997074T>C | CA414920089 | F8 | c.287A>G (p.Gln96Arg) c.*73A>G (n.*73A>G) c.182A>G (p.Gln61Arg) c.269A>G (p.Gln90Arg) | dbSNP |
| X | g.154997074T>G | CA414920090 | F8 | c.287A>C (p.Gln96Pro) c.*73A>C (n.*73A>C) c.182A>C (p.Gln61Pro) c.269A>C (p.Gln90Pro) | |
| X | g.154997074T= | CA2466857797 | F8 | c.287A= (p.Gln96=) c.*73A= (n.*73A=) c.182A= (p.Gln61=) c.269A= (p.Gln90=) | |
| X | g.154997075G>A | CA414920091 | F8 | c.286C>T (p.Gln96Ter) c.*72C>T (n.*72C>T) c.181C>T (p.Gln61Ter) c.268C>T (p.Gln90Ter) | ClinVar dbSNP |
| X | g.154997075G>C | CA414920092 | F8 | c.286C>G (p.Gln96Glu) c.*72C>G (n.*72C>G) c.181C>G (p.Gln61Glu) c.268C>G (p.Gln90Glu) | |
| X | g.154997075G>T | CA414920093 | F8 | c.286C>A (p.Gln96Lys) c.*72C>A (n.*72C>A) c.181C>A (p.Gln61Lys) c.268C>A (p.Gln90Lys) | |
| X | g.154997076G>A | CA519384160 | F8 | c.285C>T (p.Ile95=) c.*71C>T (n.*71C>T) c.180C>T (p.Ile60=) c.267C>T (p.Ile89=) | |
| X | g.154997076G>C | CA414920094 | F8 | c.285C>G (p.Ile95Met) c.*71C>G (n.*71C>G) c.180C>G (p.Ile60Met) c.267C>G (p.Ile89Met) | |
| X | g.154997076G>T | CA519384161 | F8 | c.285C>A (p.Ile95=) c.*71C>A (n.*71C>A) c.180C>A (p.Ile60=) c.267C>A (p.Ile89=) | |
| X | g.154997077A= | CA2466857798 | F8 | c.284T= (p.Ile95=) c.*70T= (n.*70T=) c.179T= (p.Ile60=) c.266T= (p.Ile89=) | |
| X | g.154997077A>C | CA414920097 | F8 | c.284T>G (p.Ile95Ser) c.*70T>G (n.*70T>G) c.179T>G (p.Ile60Ser) c.266T>G (p.Ile89Ser) | |
| X | g.154997077A>G | CA414920095 | F8 | c.284T>C (p.Ile95Thr) c.*70T>C (n.*70T>C) c.179T>C (p.Ile60Thr) c.266T>C (p.Ile89Thr) | dbSNP |
| X | g.154997077A>T | CA414920096 | F8 | c.284T>A (p.Ile95Asn) c.*70T>A (n.*70T>A) c.179T>A (p.Ile60Asn) c.266T>A (p.Ile89Asn) | |
| X | g.154997078T>A | CA414920098 | F8 | c.283A>T (p.Ile95Phe) c.*69A>T (n.*69A>T) c.178A>T (p.Ile60Phe) c.265A>T (p.Ile89Phe) | |
| X | g.154997078T>C | CA414920099 | F8 | c.283A>G (p.Ile95Val) c.*69A>G (n.*69A>G) c.178A>G (p.Ile60Val) c.265A>G (p.Ile89Val) | |
| X | g.154997078T>G | CA414920100 | F8 | c.283A>C (p.Ile95Leu) c.*69A>C (n.*69A>C) c.178A>C (p.Ile60Leu) c.265A>C (p.Ile89Leu) | |
| X | g.154997079G>A | CA519384162 | F8 | c.282C>T (p.Thr94=) c.*68C>T (n.*68C>T) c.177C>T (p.Thr59=) c.264C>T (p.Thr88=) | dbSNP |
| X | g.154997079G>C | CA519384163 | F8 | c.282C>G (p.Thr94=) c.*68C>G (n.*68C>G) c.177C>G (p.Thr59=) c.264C>G (p.Thr88=) | |
| X | g.154997079G= | CA2466857799 | F8 | c.282C= (p.Thr94=) c.*68C= (n.*68C=) c.177C= (p.Thr59=) c.264C= (p.Thr88=) | |
| X | g.154997079G>T | CA519384164 | F8 | c.282C>A (p.Thr94=) c.*68C>A (n.*68C>A) c.177C>A (p.Thr59=) c.264C>A (p.Thr88=) | |
| X | g.154997080G>A | CA10568602 | F8 | c.281C>T (p.Thr94Ile) c.*67C>T (n.*67C>T) c.176C>T (p.Thr59Ile) c.263C>T (p.Thr88Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154997080G>C | CA414920101 | F8 | c.281C>G (p.Thr94Ser) c.*67C>G (n.*67C>G) c.176C>G (p.Thr59Ser) c.263C>G (p.Thr88Ser) | |
| X | g.154997080G= | CA2466857800 | F8 | c.281C= (p.Thr94=) c.*67C= (n.*67C=) c.176C= (p.Thr59=) c.263C= (p.Thr88=) | |
| X | g.154997080G>T | CA414920102 | F8 | c.281C>A (p.Thr94Asn) c.*67C>A (n.*67C>A) c.176C>A (p.Thr59Asn) c.263C>A (p.Thr88Asn) | |
| X | g.154997081T>A | CA414920103 | F8 | c.280A>T (p.Thr94Ser) c.*66A>T (n.*66A>T) c.175A>T (p.Thr59Ser) c.262A>T (p.Thr88Ser) | |
| X | g.154997081T>C | CA10568603 | F8 | c.280A>G (p.Thr94Ala) c.*66A>G (n.*66A>G) c.175A>G (p.Thr59Ala) c.262A>G (p.Thr88Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154997081T>G | CA414920104 | F8 | c.280A>C (p.Thr94Pro) c.*66A>C (n.*66A>C) c.175A>C (p.Thr59Pro) c.262A>C (p.Thr88Pro) | |
| X | g.154997081T= | CA2466857801 | F8 | c.280A= (p.Thr94=) c.*66A= (n.*66A=) c.175A= (p.Thr59=) c.262A= (p.Thr88=) | |
| X | g.154997082A>C | CA519384165 | F8 | c.279T>G (p.Pro93=) c.*65T>G (n.*65T>G) c.174T>G (p.Pro58=) c.261T>G (p.Pro87=) | |
| X | g.154997082A>G | CA519384167 | F8 | c.279T>C (p.Pro93=) c.*65T>C (n.*65T>C) c.174T>C (p.Pro58=) c.261T>C (p.Pro87=) | |
| X | g.154997082A>T | CA519384166 | F8 | c.279T>A (p.Pro93=) c.*65T>A (n.*65T>A) c.174T>A (p.Pro58=) c.261T>A (p.Pro87=) | |
| X | g.154997083G>A | CA414920106 | F8 | c.278C>T (p.Pro93Leu) c.*64C>T (n.*64C>T) c.173C>T (p.Pro58Leu) c.260C>T (p.Pro87Leu) | |
| X | g.154997083G>C | CA414920107 | F8 | c.278C>G (p.Pro93Arg) c.*64C>G (n.*64C>G) c.173C>G (p.Pro58Arg) c.260C>G (p.Pro87Arg) | |
| X | g.154997083G>T | CA414920105 | F8 | c.278C>A (p.Pro93His) c.*64C>A (n.*64C>A) c.173C>A (p.Pro58His) c.260C>A (p.Pro87His) |