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 |
|---|---|---|---|---|---|
| 19 | g.7125440A>C | CA403671307 | INSR | c.3101T>G (p.Phe1034Cys) c.3065T>G (p.Phe1022Cys) c.3176T>G (p.Phe1059Cys) c.3140T>G (p.Phe1047Cys) c.3098T>G (p.Phe1033Cys) c.3062T>G (p.Phe1021Cys) | |
| 19 | g.7125440A>G | CA403671308 | INSR | c.3101T>C (p.Phe1034Ser) c.3065T>C (p.Phe1022Ser) c.3176T>C (p.Phe1059Ser) c.3140T>C (p.Phe1047Ser) c.3098T>C (p.Phe1033Ser) c.3062T>C (p.Phe1021Ser) | |
| 19 | g.7125440A>T | CA403671309 | INSR | c.3101T>A (p.Phe1034Tyr) c.3065T>A (p.Phe1022Tyr) c.3176T>A (p.Phe1059Tyr) c.3140T>A (p.Phe1047Tyr) c.3098T>A (p.Phe1033Tyr) c.3062T>A (p.Phe1021Tyr) | |
| 19 | g.7125441A>C | CA403671310 | INSR | c.3100T>G (p.Phe1034Val) c.3064T>G (p.Phe1022Val) c.3175T>G (p.Phe1059Val) c.3139T>G (p.Phe1047Val) c.3097T>G (p.Phe1033Val) c.3061T>G (p.Phe1021Val) | |
| 19 | g.7125441A>G | CA403671311 | INSR | c.3100T>C (p.Phe1034Leu) c.3064T>C (p.Phe1022Leu) c.3175T>C (p.Phe1059Leu) c.3139T>C (p.Phe1047Leu) c.3097T>C (p.Phe1033Leu) c.3061T>C (p.Phe1021Leu) | |
| 19 | g.7125441A>T | CA403671312 | INSR | c.3100T>A (p.Phe1034Ile) c.3064T>A (p.Phe1022Ile) c.3175T>A (p.Phe1059Ile) c.3139T>A (p.Phe1047Ile) c.3097T>A (p.Phe1033Ile) c.3061T>A (p.Phe1021Ile) | |
| 19 | g.7125442G>A | CA505400250 | INSR | c.3099C>T (p.Ser1033=) c.3063C>T (p.Ser1021=) c.3174C>T (p.Ser1058=) c.3138C>T (p.Ser1046=) c.3096C>T (p.Ser1032=) c.3060C>T (p.Ser1020=) | |
| 19 | g.7125442G>C | CA505400251 | INSR | c.3099C>G (p.Ser1033=) c.3063C>G (p.Ser1021=) c.3174C>G (p.Ser1058=) c.3138C>G (p.Ser1046=) c.3096C>G (p.Ser1032=) c.3060C>G (p.Ser1020=) | |
| 19 | g.7125442G>T | CA505400252 | INSR | c.3099C>A (p.Ser1033=) c.3063C>A (p.Ser1021=) c.3174C>A (p.Ser1058=) c.3138C>A (p.Ser1046=) c.3096C>A (p.Ser1032=) c.3060C>A (p.Ser1020=) | |
| 19 | g.7125443G>A | CA9135361 | INSR | c.3098C>T (p.Ser1033Phe) c.3062C>T (p.Ser1021Phe) c.3173C>T (p.Ser1058Phe) c.3137C>T (p.Ser1046Phe) c.3095C>T (p.Ser1032Phe) c.3059C>T (p.Ser1020Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7125443G>C | CA403671313 | INSR | c.3098C>G (p.Ser1033Cys) c.3062C>G (p.Ser1021Cys) c.3173C>G (p.Ser1058Cys) c.3137C>G (p.Ser1046Cys) c.3095C>G (p.Ser1032Cys) c.3059C>G (p.Ser1020Cys) | |
| 19 | g.7125443G= | CA2320767967 | INSR | c.3098C= (p.Ser1033=) c.3062C= (p.Ser1021=) c.3173C= (p.Ser1058=) c.3137C= (p.Ser1046=) c.3095C= (p.Ser1032=) c.3059C= (p.Ser1020=) | |
| 19 | g.7125443G>T | CA403671314 | INSR | c.3098C>A (p.Ser1033Tyr) c.3062C>A (p.Ser1021Tyr) c.3173C>A (p.Ser1058Tyr) c.3137C>A (p.Ser1046Tyr) c.3095C>A (p.Ser1032Tyr) c.3059C>A (p.Ser1020Tyr) | |
| 19 | g.7125444A>C | CA403671317 | INSR | c.3097T>G (p.Ser1033Ala) c.3061T>G (p.Ser1021Ala) c.3172T>G (p.Ser1058Ala) c.3136T>G (p.Ser1046Ala) c.3094T>G (p.Ser1032Ala) c.3058T>G (p.Ser1020Ala) | |
| 19 | g.7125444A>G | CA403671316 | INSR | c.3097T>C (p.Ser1033Pro) c.3061T>C (p.Ser1021Pro) c.3172T>C (p.Ser1058Pro) c.3136T>C (p.Ser1046Pro) c.3094T>C (p.Ser1032Pro) c.3058T>C (p.Ser1020Pro) | |
| 19 | g.7125444A>T | CA403671315 | INSR | c.3097T>A (p.Ser1033Thr) c.3061T>A (p.Ser1021Thr) c.3172T>A (p.Ser1058Thr) c.3136T>A (p.Ser1046Thr) c.3094T>A (p.Ser1032Thr) c.3058T>A (p.Ser1020Thr) | |
| 19 | g.7125445G>A | CA505400254 | INSR | c.3096C>T (p.Gly1032=) c.3060C>T (p.Gly1020=) c.3171C>T (p.Gly1057=) c.3135C>T (p.Gly1045=) c.3093C>T (p.Gly1031=) c.3057C>T (p.Gly1019=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7125445G>C | CA505400255 | INSR | c.3096C>G (p.Gly1032=) c.3060C>G (p.Gly1020=) c.3171C>G (p.Gly1057=) c.3135C>G (p.Gly1045=) c.3093C>G (p.Gly1031=) c.3057C>G (p.Gly1019=) | |
| 19 | g.7125445G= | CA2320767968 | INSR | c.3096C= (p.Gly1032=) c.3060C= (p.Gly1020=) c.3171C= (p.Gly1057=) c.3135C= (p.Gly1045=) c.3093C= (p.Gly1031=) c.3057C= (p.Gly1019=) | |
| 19 | g.7125445G>T | CA505400253 | INSR | c.3096C>A (p.Gly1032=) c.3060C>A (p.Gly1020=) c.3171C>A (p.Gly1057=) c.3135C>A (p.Gly1045=) c.3093C>A (p.Gly1031=) c.3057C>A (p.Gly1019=) | |
| 19 | g.7125446C>A | CA403671318 | INSR | c.3095G>T (p.Gly1032Val) c.3059G>T (p.Gly1020Val) c.3170G>T (p.Gly1057Val) c.3134G>T (p.Gly1045Val) c.3092G>T (p.Gly1031Val) c.3056G>T (p.Gly1019Val) | |
| 19 | g.7125446C>G | CA403671319 | INSR | c.3095G>C (p.Gly1032Ala) c.3059G>C (p.Gly1020Ala) c.3170G>C (p.Gly1057Ala) c.3134G>C (p.Gly1045Ala) c.3092G>C (p.Gly1031Ala) c.3056G>C (p.Gly1019Ala) | |
| 19 | g.7125446C>T | CA403671320 | INSR | c.3095G>A (p.Gly1032Asp) c.3059G>A (p.Gly1020Asp) c.3170G>A (p.Gly1057Asp) c.3134G>A (p.Gly1045Asp) c.3092G>A (p.Gly1031Asp) c.3056G>A (p.Gly1019Asp) | |
| 19 | g.7125447C>A | CA403671321 | INSR | c.3094G>T (p.Gly1032Cys) c.3058G>T (p.Gly1020Cys) c.3169G>T (p.Gly1057Cys) c.3133G>T (p.Gly1045Cys) c.3091G>T (p.Gly1031Cys) c.3055G>T (p.Gly1019Cys) | |
| 19 | g.7125447C>G | CA403671322 | INSR | c.3094G>C (p.Gly1032Arg) c.3058G>C (p.Gly1020Arg) c.3169G>C (p.Gly1057Arg) c.3133G>C (p.Gly1045Arg) c.3091G>C (p.Gly1031Arg) c.3055G>C (p.Gly1019Arg) | |
| 19 | g.7125447C>T | CA403671323 | INSR | c.3094G>A (p.Gly1032Ser) c.3058G>A (p.Gly1020Ser) c.3169G>A (p.Gly1057Ser) c.3133G>A (p.Gly1045Ser) c.3091G>A (p.Gly1031Ser) c.3055G>A (p.Gly1019Ser) | ClinVar |
| 19 | g.7125448C>A | CA403671325 | INSR | c.3093G>T (p.Gln1031His) c.3057G>T (p.Gln1019His) c.3168G>T (p.Gln1056His) c.3132G>T (p.Gln1044His) c.3090G>T (p.Gln1030His) c.3054G>T (p.Gln1018His) | |
| 19 | g.7125448C= | CA2320767969 | INSR | c.3093G= (p.Gln1031=) c.3057G= (p.Gln1019=) c.3168G= (p.Gln1056=) c.3132G= (p.Gln1044=) c.3090G= (p.Gln1030=) c.3054G= (p.Gln1018=) | |
| 19 | g.7125448C>G | CA403671324 | INSR | c.3093G>C (p.Gln1031His) c.3057G>C (p.Gln1019His) c.3168G>C (p.Gln1056His) c.3132G>C (p.Gln1044His) c.3090G>C (p.Gln1030His) c.3054G>C (p.Gln1018His) | |
| 19 | g.7125448C>T | CA505400256 | INSR | c.3093G>A (p.Gln1031=) c.3057G>A (p.Gln1019=) c.3168G>A (p.Gln1056=) c.3132G>A (p.Gln1044=) c.3090G>A (p.Gln1030=) c.3054G>A (p.Gln1018=) | dbSNP |
| 19 | g.7125449T>A | CA403671326 | INSR | c.3092A>T (p.Gln1031Leu) c.3056A>T (p.Gln1019Leu) c.3167A>T (p.Gln1056Leu) c.3131A>T (p.Gln1044Leu) c.3089A>T (p.Gln1030Leu) c.3053A>T (p.Gln1018Leu) | |
| 19 | g.7125449T>C | CA403671327 | INSR | c.3092A>G (p.Gln1031Arg) c.3056A>G (p.Gln1019Arg) c.3167A>G (p.Gln1056Arg) c.3131A>G (p.Gln1044Arg) c.3089A>G (p.Gln1030Arg) c.3053A>G (p.Gln1018Arg) | |
| 19 | g.7125449T>G | CA403671328 | INSR | c.3092A>C (p.Gln1031Pro) c.3056A>C (p.Gln1019Pro) c.3167A>C (p.Gln1056Pro) c.3131A>C (p.Gln1044Pro) c.3089A>C (p.Gln1030Pro) c.3053A>C (p.Gln1018Pro) | |
| 19 | g.7125450G>A | CA403671329 | INSR | c.3091C>T (p.Gln1031Ter) c.3055C>T (p.Gln1019Ter) c.3166C>T (p.Gln1056Ter) c.3130C>T (p.Gln1044Ter) c.3088C>T (p.Gln1030Ter) c.3052C>T (p.Gln1018Ter) | |
| 19 | g.7125450G>C | CA403671330 | INSR | c.3091C>G (p.Gln1031Glu) c.3055C>G (p.Gln1019Glu) c.3166C>G (p.Gln1056Glu) c.3130C>G (p.Gln1044Glu) c.3088C>G (p.Gln1030Glu) c.3052C>G (p.Gln1018Glu) | |
| 19 | g.7125450G>T | CA403671331 | INSR | c.3091C>A (p.Gln1031Lys) c.3055C>A (p.Gln1019Lys) c.3166C>A (p.Gln1056Lys) c.3130C>A (p.Gln1044Lys) c.3088C>A (p.Gln1030Lys) c.3052C>A (p.Gln1018Lys) | |
| 19 | g.7125451C>A | CA505400258 | INSR | c.3090G>T (p.Gly1030=) c.3054G>T (p.Gly1018=) c.3165G>T (p.Gly1055=) c.3129G>T (p.Gly1043=) c.3087G>T (p.Gly1029=) c.3051G>T (p.Gly1017=) | gnomAD v4 |
| 19 | g.7125451C>G | CA505400259 | INSR | c.3090G>C (p.Gly1030=) c.3054G>C (p.Gly1018=) c.3165G>C (p.Gly1055=) c.3129G>C (p.Gly1043=) c.3087G>C (p.Gly1029=) c.3051G>C (p.Gly1017=) | |
| 19 | g.7125451C>T | CA505400257 | INSR | c.3090G>A (p.Gly1030=) c.3054G>A (p.Gly1018=) c.3165G>A (p.Gly1055=) c.3129G>A (p.Gly1043=) c.3087G>A (p.Gly1029=) c.3051G>A (p.Gly1017=) | gnomAD v4 |
| 19 | g.7125452C>A | CA403671334 | INSR | c.3089G>T (p.Gly1030Val) c.3053G>T (p.Gly1018Val) c.3164G>T (p.Gly1055Val) c.3128G>T (p.Gly1043Val) c.3086G>T (p.Gly1029Val) c.3050G>T (p.Gly1017Val) | |
| 19 | g.7125452C>G | CA403671332 | INSR | c.3089G>C (p.Gly1030Ala) c.3053G>C (p.Gly1018Ala) c.3164G>C (p.Gly1055Ala) c.3128G>C (p.Gly1043Ala) c.3086G>C (p.Gly1029Ala) c.3050G>C (p.Gly1017Ala) | |
| 19 | g.7125452C>T | CA403671333 | INSR | c.3089G>A (p.Gly1030Glu) c.3053G>A (p.Gly1018Glu) c.3164G>A (p.Gly1055Glu) c.3128G>A (p.Gly1043Glu) c.3086G>A (p.Gly1029Glu) c.3050G>A (p.Gly1017Glu) | |
| 19 | g.7125453C>A | CA403671335 | INSR | c.3088G>T (p.Gly1030Trp) c.3052G>T (p.Gly1018Trp) c.3163G>T (p.Gly1055Trp) c.3127G>T (p.Gly1043Trp) c.3085G>T (p.Gly1029Trp) c.3049G>T (p.Gly1017Trp) | |
| 19 | g.7125453C>G | CA403671336 | INSR | c.3088G>C (p.Gly1030Arg) c.3052G>C (p.Gly1018Arg) c.3163G>C (p.Gly1055Arg) c.3127G>C (p.Gly1043Arg) c.3085G>C (p.Gly1029Arg) c.3049G>C (p.Gly1017Arg) | |
| 19 | g.7125453C>T | CA403671337 | INSR | c.3088G>A (p.Gly1030Arg) c.3052G>A (p.Gly1018Arg) c.3163G>A (p.Gly1055Arg) c.3127G>A (p.Gly1043Arg) c.3085G>A (p.Gly1029Arg) c.3049G>A (p.Gly1017Arg) | |
| 19 | g.7125454C>A | CA505400260 | INSR | c.3087G>T (p.Leu1029=) c.3051G>T (p.Leu1017=) c.3162G>T (p.Leu1054=) c.3126G>T (p.Leu1042=) c.3084G>T (p.Leu1028=) c.3048G>T (p.Leu1016=) | |
| 19 | g.7125454C>G | CA505400261 | INSR | c.3087G>C (p.Leu1029=) c.3051G>C (p.Leu1017=) c.3162G>C (p.Leu1054=) c.3126G>C (p.Leu1042=) c.3084G>C (p.Leu1028=) c.3048G>C (p.Leu1016=) | |
| 19 | g.7125454C>T | CA505400262 | INSR | c.3087G>A (p.Leu1029=) c.3051G>A (p.Leu1017=) c.3162G>A (p.Leu1054=) c.3126G>A (p.Leu1042=) c.3084G>A (p.Leu1028=) c.3048G>A (p.Leu1016=) | |
| 19 | g.7125455_7125475dup | CA2587922098 | INSR | c.3067_3087dup (p.Leu1029_Gly1030insIleThrLeuLeuArgGluLeu) c.3031_3051dup (p.Leu1017_Gly1018insIleThrLeuLeuArgGluLeu) c.3142_3162dup (p.Leu1054_Gly1055insIleThrLeuLeuArgGluLeu) c.3106_3126dup (p.Leu1042_Gly1043insIleThrLeuLeuArgGluLeu) c.3064_3084dup (p.Leu1028_Gly1029insIleThrLeuLeuArgGluLeu) c.3028_3048dup (p.Leu1016_Gly1017insIleThrLeuLeuArgGluLeu) | gnomAD v4 |
| 19 | g.7125455A>C | CA403671338 | INSR | c.3086T>G (p.Leu1029Arg) c.3050T>G (p.Leu1017Arg) c.3161T>G (p.Leu1054Arg) c.3125T>G (p.Leu1042Arg) c.3083T>G (p.Leu1028Arg) c.3047T>G (p.Leu1016Arg) |