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.108272806_108272808del | CA2573146657 | ATM | c.3238_3240del (p.Asp1080del) c.*2709_*2711del (n.*2709_*2711del) n.3388_3390del c.3073_3075del (p.Asp1025del) c.2194_2196del (p.Asp732del) c.1930_1932del (p.Asp644del) n.3971_3973del | ClinVar dbSNP |
| 11 | g.108272807A= | CA1998777294 | ATM | c.3239A= (p.Asp1080=) c.*2710A= (n.*2710A=) n.3389A= c.3074A= (p.Asp1025=) c.2195A= (p.Asp732=) c.1931A= (p.Asp644=) n.3972A= | |
| 11 | g.108272807A>C | CA382515981 | ATM | c.3239A>C (p.Asp1080Ala) c.*2710A>C (n.*2710A>C) n.3389A>C c.3074A>C (p.Asp1025Ala) c.2195A>C (p.Asp732Ala) c.1931A>C (p.Asp644Ala) n.3972A>C | ClinVar dbSNP |
| 11 | g.108272807A>G | CA382515978 | ATM | c.3239A>G (p.Asp1080Gly) c.*2710A>G (n.*2710A>G) n.3389A>G c.3074A>G (p.Asp1025Gly) c.2195A>G (p.Asp732Gly) c.1931A>G (p.Asp644Gly) n.3972A>G | ClinVar dbSNP |
| 11 | g.108272807A>T | CA6265230 | ATM | c.3239A>T (p.Asp1080Val) c.*2710A>T (n.*2710A>T) n.3389A>T c.3074A>T (p.Asp1025Val) c.2195A>T (p.Asp732Val) c.1931A>T (p.Asp644Val) n.3972A>T | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.108272807_108272811delinsACAAT | CA1998777293 | ATM | c.3239_3243delinsACAAT (p.Asp1080=) c.*2710_*2714delinsACAAT (n.*2710_*2714delinsACAAT) n.3389_3393delinsACAAT c.3074_3078delinsACAAT (p.Asp1025=) c.2195_2199delinsACAAT (p.Asp732=) c.1931_1935delinsACAAT (p.Asp644=) n.3972_3976delinsACAAT | |
| 11 | g.108272808C>A | CA6265231 | ATM | c.3240C>A (p.Asp1080Glu) c.*2711C>A (n.*2711C>A) n.3390C>A c.3075C>A (p.Asp1025Glu) c.2196C>A (p.Asp732Glu) c.1932C>A (p.Asp644Glu) n.3973C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108272808C= | CA1998777297 | ATM | c.3240C= (p.Asp1080=) c.*2711C= (n.*2711C=) n.3390C= c.3075C= (p.Asp1025=) c.2196C= (p.Asp732=) c.1932C= (p.Asp644=) n.3973C= | |
| 11 | g.108272808C>G | CA382515985 | ATM | c.3240C>G (p.Asp1080Glu) c.*2711C>G (n.*2711C>G) n.3390C>G c.3075C>G (p.Asp1025Glu) c.2196C>G (p.Asp732Glu) c.1932C>G (p.Asp644Glu) n.3973C>G | dbSNP |
| 11 | g.108272808C>T | CA476745128 | ATM | c.3240C>T (p.Asp1080=) c.*2711C>T (n.*2711C>T) n.3390C>T c.3075C>T (p.Asp1025=) c.2196C>T (p.Asp732=) c.1932C>T (p.Asp644=) n.3973C>T | ClinVar gnomAD v4 |
| 11 | g.108272810_108272813del | CA16613033 | ATM | c.3242_3245del (p.Asn1081IlefsTer27) c.*2713_*2716del (n.*2713_*2716del) n.3392_3395del c.3077_3080del (p.Asn1026IlefsTer27) c.2198_2201del (p.Asn733IlefsTer27) c.1934_1937del (p.Asn645IlefsTer27) n.3975_3978del | ClinVar dbSNP |
| 11 | g.108272809A= | CA1998777299 | ATM | c.3241A= (p.Asn1081=) c.*2712A= (n.*2712A=) n.3391A= c.3076A= (p.Asn1026=) c.2197A= (p.Asn733=) c.1933A= (p.Asn645=) n.3974A= | |
| 11 | g.108272809A>C | CA382515989 | ATM | c.3241A>C (p.Asn1081His) c.*2712A>C (n.*2712A>C) n.3391A>C c.3076A>C (p.Asn1026His) c.2197A>C (p.Asn733His) c.1933A>C (p.Asn645His) n.3974A>C | ClinVar dbSNP |
| 11 | g.108272809A>G | CA382515991 | ATM | c.3241A>G (p.Asn1081Asp) c.*2712A>G (n.*2712A>G) n.3391A>G c.3076A>G (p.Asn1026Asp) c.2197A>G (p.Asn733Asp) c.1933A>G (p.Asn645Asp) n.3974A>G | ClinVar dbSNP |
| 11 | g.108272809A>T | CA382515993 | ATM | c.3241A>T (p.Asn1081Tyr) c.*2712A>T (n.*2712A>T) n.3391A>T c.3076A>T (p.Asn1026Tyr) c.2197A>T (p.Asn733Tyr) c.1933A>T (p.Asn645Tyr) n.3974A>T | dbSNP |
| 11 | g.108272809_108272812delinsAATC | CA1998777298 | ATM | c.3241_3244delinsAATC (p.Asn1081=) c.*2712_*2715delinsAATC (n.*2712_*2715delinsAATC) n.3391_3394delinsAATC c.3076_3079delinsAATC (p.Asn1026=) c.2197_2200delinsAATC (p.Asn733=) c.1933_1936delinsAATC (p.Asn645=) n.3974_3977delinsAATC | |
| 11 | g.108272810A= | CA1998777301 | ATM | c.3242A= (p.Asn1081=) c.*2713A= (n.*2713A=) n.3392A= c.3077A= (p.Asn1026=) c.2198A= (p.Asn733=) c.1934A= (p.Asn645=) n.3975A= | |
| 11 | g.108272810A>C | CA382515995 | ATM | c.3242A>C (p.Asn1081Thr) c.*2713A>C (n.*2713A>C) n.3392A>C c.3077A>C (p.Asn1026Thr) c.2198A>C (p.Asn733Thr) c.1934A>C (p.Asn645Thr) n.3975A>C | dbSNP |
| 11 | g.108272810A>G | CA294246 | ATM | c.3242A>G (p.Asn1081Ser) c.*2713A>G (n.*2713A>G) n.3392A>G c.3077A>G (p.Asn1026Ser) c.2198A>G (p.Asn733Ser) c.1934A>G (p.Asn645Ser) n.3975A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.108272810A>T | CA382515999 | ATM | c.3242A>T (p.Asn1081Ile) c.*2713A>T (n.*2713A>T) n.3392A>T c.3077A>T (p.Asn1026Ile) c.2198A>T (p.Asn733Ile) c.1934A>T (p.Asn645Ile) n.3975A>T | dbSNP |
| 11 | g.108272814_108272816del | CA915948377 | ATM | c.3246_3248del (p.His1083del) c.*2717_*2719del (n.*2717_*2719del) n.3396_3398del c.3081_3083del (p.His1028del) c.2202_2204del (p.His735del) c.1938_1940del (p.His647del) n.3979_3981del | ClinVar dbSNP |
| 11 | g.108272811T>A | CA382516002 | ATM | c.3243T>A (p.Asn1081Lys) c.*2714T>A (n.*2714T>A) n.3393T>A c.3078T>A (p.Asn1026Lys) c.2199T>A (p.Asn733Lys) c.1935T>A (p.Asn645Lys) n.3976T>A | dbSNP |
| 11 | g.108272811T>C | CA476745129 | ATM | c.3243T>C (p.Asn1081=) c.*2714T>C (n.*2714T>C) n.3393T>C c.3078T>C (p.Asn1026=) c.2199T>C (p.Asn733=) c.1935T>C (p.Asn645=) n.3976T>C | ClinVar dbSNP |
| 11 | g.108272811T>G | CA382516005 | ATM | c.3243T>G (p.Asn1081Lys) c.*2714T>G (n.*2714T>G) n.3393T>G c.3078T>G (p.Asn1026Lys) c.2199T>G (p.Asn733Lys) c.1935T>G (p.Asn645Lys) n.3976T>G | |
| 11 | g.108272812C>A | CA382516009 | ATM | c.3244C>A (p.His1082Asn) c.*2715C>A (n.*2715C>A) n.3394C>A c.3079C>A (p.His1027Asn) c.2200C>A (p.His734Asn) c.1936C>A (p.His646Asn) n.3977C>A | dbSNP |
| 11 | g.108272812C= | CA1998777305 | ATM | c.3244C= (p.His1082=) c.*2715C= (n.*2715C=) n.3394C= c.3079C= (p.His1027=) c.2200C= (p.His734=) c.1936C= (p.His646=) n.3977C= | |
| 11 | g.108272812C>G | CA382516011 | ATM | c.3244C>G (p.His1082Asp) c.*2715C>G (n.*2715C>G) n.3394C>G c.3079C>G (p.His1027Asp) c.2200C>G (p.His734Asp) c.1936C>G (p.His646Asp) n.3977C>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.108272812C>T | CA382516014 | ATM | c.3244C>T (p.His1082Tyr) c.*2715C>T (n.*2715C>T) n.3394C>T c.3079C>T (p.His1027Tyr) c.2200C>T (p.His734Tyr) c.1936C>T (p.His646Tyr) n.3977C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108272812_108272815delinsCATC | CA1998777304 | ATM | c.3244_3247delinsCATC (p.His1082=) c.*2715_*2718delinsCATC (n.*2715_*2718delinsCATC) n.3394_3397delinsCATC c.3079_3082delinsCATC (p.His1027=) c.2200_2203delinsCATC (p.His734=) c.1936_1939delinsCATC (p.His646=) n.3977_3980delinsCATC | |
| 11 | g.108272815_108272828del | CA2580083348 | ATM | c.3247_3260del (p.His1083ValfsTer8) c.*2718_*2731del (n.*2718_*2731del) n.3397_3410del c.3082_3095del (p.His1028ValfsTer8) c.2203_2216del (p.His735ValfsTer8) c.1939_1952del (p.His647ValfsTer8) n.3980_3993del | ClinVar |
| 11 | g.108272812_108272813insG | CA915948378 | ATM | c.3244_3245insG (p.His1082ArgfsTer14) c.*2715_*2716insG (n.*2715_*2716insG) n.3394_3395insG c.3079_3080insG (p.His1027ArgfsTer14) c.2200_2201insG (p.His734ArgfsTer14) c.1936_1937insG (p.His646ArgfsTer14) n.3977_3978insG | ClinVar dbSNP |
| 11 | g.108272812_108272813insTG | CA228357976 | ATM | c.3244_3245insTG (p.His1082LeufsTer28) c.*2715_*2716insTG (n.*2715_*2716insTG) n.3394_3395insTG c.3079_3080insTG (p.His1027LeufsTer28) c.2200_2201insTG (p.His734LeufsTer28) c.1936_1937insTG (p.His646LeufsTer28) n.3977_3978insTG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.[108272812_108272813insTG;108272815del] | CA2742038373 | ATM | c.[3244_3245insTG;3247del] (p.His1082_His1083delinsLeuIle) c.[*2715_*2716insTG;*2718del] (n.[*2715_*2716insTG;*2718del]) n.[3394_3395insTG;3397del] c.[3079_3080insTG;3082del] (p.His1027_His1028delinsLeuIle) c.[2200_2201insTG;2203del] (p.His734_His735delinsLeuIle) c.[1936_1937insTG;1939del] (p.His646_His647delinsLeuIle) n.[3977_3978insTG;3980del] | ClinVar |
| 11 | g.108272813A= | CA1998777308 | ATM | c.3245A= (p.His1082=) c.*2716A= (n.*2716A=) n.3395A= c.3080A= (p.His1027=) c.2201A= (p.His734=) c.1937A= (p.His646=) n.3978A= | |
| 11 | g.108272813A>C | CA382516022 | ATM | c.3245A>C (p.His1082Pro) c.*2716A>C (n.*2716A>C) n.3395A>C c.3080A>C (p.His1027Pro) c.2201A>C (p.His734Pro) c.1937A>C (p.His646Pro) n.3978A>C | ClinVar dbSNP |
| 11 | g.108272813A>G | CA228357977 | ATM | c.3245A>G (p.His1082Arg) c.*2716A>G (n.*2716A>G) n.3395A>G c.3080A>G (p.His1027Arg) c.2201A>G (p.His734Arg) c.1937A>G (p.His646Arg) n.3978A>G | ClinVar dbSNP |
| 11 | g.108272813A>T | CA382516018 | ATM | c.3245A>T (p.His1082Leu) c.*2716A>T (n.*2716A>T) n.3395A>T c.3080A>T (p.His1027Leu) c.2201A>T (p.His734Leu) c.1937A>T (p.His646Leu) n.3978A>T | dbSNP |
| 11 | g.108272813_108272815delinsTGAT | CA298025 | ATM | c.3245_3247delinsTGAT (p.His1082LeufsTer14) c.*2716_*2718delinsTGAT (n.*2716_*2718delinsTGAT) n.3395_3397delinsTGAT c.3080_3082delinsTGAT (p.His1027LeufsTer14) c.2201_2203delinsTGAT (p.His734LeufsTer14) c.1937_1939delinsTGAT (p.His646LeufsTer14) n.3978_3980delinsTGAT | ClinVar dbSNP |
| 11 | g.108272813_108272816dup | CA2695215259 | ATM | c.3245_3248dup (p.His1083GlnfsTer14) c.*2716_*2719dup (n.*2716_*2719dup) n.3395_3398dup c.3080_3083dup (p.His1028GlnfsTer14) c.2201_2204dup (p.His735GlnfsTer14) c.1937_1940dup (p.His647GlnfsTer14) n.3978_3981dup | |
| 11 | g.108272814T>A | CA382516032 | ATM | c.3246T>A (p.His1082Gln) c.*2717T>A (n.*2717T>A) n.3396T>A c.3081T>A (p.His1027Gln) c.2202T>A (p.His734Gln) c.1938T>A (p.His646Gln) n.3979T>A | |
| 11 | g.108272814T>C | CA476745130 | ATM | c.3246T>C (p.His1082=) c.*2717T>C (n.*2717T>C) n.3396T>C c.3081T>C (p.His1027=) c.2202T>C (p.His734=) c.1938T>C (p.His646=) n.3979T>C | |
| 11 | g.108272814T>G | CA382516029 | ATM | c.3246T>G (p.His1082Gln) c.*2717T>G (n.*2717T>G) n.3396T>G c.3081T>G (p.His1027Gln) c.2202T>G (p.His734Gln) c.1938T>G (p.His646Gln) n.3979T>G | |
| 11 | g.108272814_108272815delinsTC | CA1998777311 | ATM | c.3246_3247delinsTC (p.His1082=) c.*2717_*2718delinsTC (n.*2717_*2718delinsTC) n.3396_3397delinsTC c.3081_3082delinsTC (p.His1027=) c.2202_2203delinsTC (p.His734=) c.1938_1939delinsTC (p.His646=) n.3979_3980delinsTC | |
| 11 | g.108272815del | CA228357980 | ATM | c.3247del (p.His1083ThrfsTer26) c.*2718del (n.*2718del) n.3397del c.3082del (p.His1028ThrfsTer26) c.2203del (p.His735ThrfsTer26) c.1939del (p.His647ThrfsTer26) n.3980del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108272815C>A | CA382516035 | ATM | c.3247C>A (p.His1083Asn) c.*2718C>A (n.*2718C>A) n.3397C>A c.3082C>A (p.His1028Asn) c.2203C>A (p.His735Asn) c.1939C>A (p.His647Asn) n.3980C>A | dbSNP |
| 11 | g.108272815C= | CA1998777313 | ATM | c.3247C= (p.His1083=) c.*2718C= (n.*2718C=) n.3397C= c.3082C= (p.His1028=) c.2203C= (p.His735=) c.1939C= (p.His647=) n.3980C= | |
| 11 | g.108272815C>G | CA382516037 | ATM | c.3247C>G (p.His1083Asp) c.*2718C>G (n.*2718C>G) n.3397C>G c.3082C>G (p.His1028Asp) c.2203C>G (p.His735Asp) c.1939C>G (p.His647Asp) n.3980C>G | dbSNP |
| 11 | g.108272815C>T | CA6265232 | ATM | c.3247C>T (p.His1083Tyr) c.*2718C>T (n.*2718C>T) n.3397C>T c.3082C>T (p.His1028Tyr) c.2203C>T (p.His735Tyr) c.1939C>T (p.His647Tyr) n.3980C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108272815_108272816delinsGAT | CA2695215260 | ATM | c.3247_3248delinsGAT (p.His1083AspfsTer13) c.*2718_*2719delinsGAT (n.*2718_*2719delinsGAT) n.3397_3398delinsGAT c.3082_3083delinsGAT (p.His1028AspfsTer13) c.2203_2204delinsGAT (p.His735AspfsTer13) c.1939_1940delinsGAT (p.His647AspfsTer13) n.3980_3981delinsGAT | |
| 11 | g.108272816A= | CA1998777315 | ATM | c.3248A= (p.His1083=) c.*2719A= (n.*2719A=) n.3398A= c.3083A= (p.His1028=) c.2204A= (p.His735=) c.1940A= (p.His647=) n.3981A= |