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 |
|---|---|---|---|---|---|
| 15 | g.98707786C>A | CA393697010 | IGF1R | c.319C>A (p.Arg107Ser) n.319C>A c.394C>A (p.Arg132Ser) c.-45C>A (n.-45C>A) | |
| 15 | g.98707786C= | CA2199177410 | IGF1R | c.319C= (p.Arg107=) n.319C= c.394C= (p.Arg132=) c.-45C= (n.-45C=) | |
| 15 | g.98707786C>G | CA393697009 | IGF1R | c.319C>G (p.Arg107Gly) n.319C>G c.394C>G (p.Arg132Gly) c.-45C>G (n.-45C>G) | |
| 15 | g.98707786C>T | CA275819396 | IGF1R | c.319C>T (p.Arg107Cys) n.319C>T c.394C>T (p.Arg132Cys) c.-45C>T (n.-45C>T) | dbSNP |
| 15 | g.98707787G>A | CA7751778 | IGF1R | c.320G>A (p.Arg107His) n.320G>A c.395G>A (p.Arg132His) c.-44G>A (n.-44G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.98707787G>C | CA393697012 | IGF1R | c.320G>C (p.Arg107Pro) n.320G>C c.395G>C (p.Arg132Pro) c.-44G>C (n.-44G>C) | dbSNP |
| 15 | g.98707787G= | CA2199177412 | IGF1R | c.320G= (p.Arg107=) n.320G= c.395G= (p.Arg132=) c.-44G= (n.-44G=) | |
| 15 | g.98707787G>T | CA393697011 | IGF1R | c.320G>T (p.Arg107Leu) n.320G>T c.395G>T (p.Arg132Leu) c.-44G>T (n.-44G>T) | |
| 15 | g.98707788C>A | CA492686261 | IGF1R | c.321C>A (p.Arg107=) n.321C>A c.396C>A (p.Arg132=) c.-43C>A (n.-43C>A) | |
| 15 | g.98707788C= | CA2199177419 | IGF1R | c.321C= (p.Arg107=) n.321C= c.396C= (p.Arg132=) c.-43C= (n.-43C=) | |
| 15 | g.98707788C>G | CA492686262 | IGF1R | c.321C>G (p.Arg107=) n.321C>G c.396C>G (p.Arg132=) c.-43C>G (n.-43C>G) | ClinVar |
| 15 | g.98707788C>T | CA275819399 | IGF1R | c.321C>T (p.Arg107=) n.321C>T c.396C>T (p.Arg132=) c.-43C>T (n.-43C>T) | dbSNP gnomAD v4 COSMIC |
| 15 | g.98707788_98707789delinsCG | CA2199177414 | IGF1R | c.321_322delinsCG (p.Arg107=) n.321_322delinsCG c.396_397delinsCG (p.Arg132=) c.-43_-42delinsCG (n.-43_-42delinsCG) | |
| 15 | g.98707789G>A | CA393697013 | IGF1R | c.322G>A (p.Gly108Ser) n.322G>A c.397G>A (p.Gly133Ser) c.-42G>A (n.-42G>A) | dbSNP COSMIC |
| 15 | g.98707789G>C | CA393697014 | IGF1R | c.322G>C (p.Gly108Arg) n.322G>C c.397G>C (p.Gly133Arg) c.-42G>C (n.-42G>C) | |
| 15 | g.98707789G>T | CA393697015 | IGF1R | c.322G>T (p.Gly108Cys) n.322G>T c.397G>T (p.Gly133Cys) c.-42G>T (n.-42G>T) | |
| 15 | g.98707790del | CA16620063 | IGF1R | c.323del (p.Gly108AlafsTer15) n.323del c.398del (p.Gly133AlafsTer15) c.-41del (n.-41del) | ClinVar dbSNP |
| 15 | g.98707790G>A | CA393697016 | IGF1R | c.323G>A (p.Gly108Asp) n.323G>A c.398G>A (p.Gly133Asp) c.-41G>A (n.-41G>A) | dbSNP COSMIC |
| 15 | g.98707790G>C | CA393697017 | IGF1R | c.323G>C (p.Gly108Ala) n.323G>C c.398G>C (p.Gly133Ala) c.-41G>C (n.-41G>C) | |
| 15 | g.98707790G>T | CA393697018 | IGF1R | c.323G>T (p.Gly108Val) n.323G>T c.398G>T (p.Gly133Val) c.-41G>T (n.-41G>T) | |
| 15 | g.98707791C>A | CA492686266 | IGF1R | c.324C>A (p.Gly108=) n.324C>A c.399C>A (p.Gly133=) c.-40C>A (n.-40C>A) | |
| 15 | g.98707791C>G | CA492686267 | IGF1R | c.324C>G (p.Gly108=) n.324C>G c.399C>G (p.Gly133=) c.-40C>G (n.-40C>G) | |
| 15 | g.98707791C>T | CA492686268 | IGF1R | c.324C>T (p.Gly108=) n.324C>T c.399C>T (p.Gly133=) c.-40C>T (n.-40C>T) | |
| 15 | g.98707792T>A | CA393697019 | IGF1R | c.325T>A (p.Trp109Arg) n.325T>A c.400T>A (p.Trp134Arg) c.-39T>A (n.-39T>A) | |
| 15 | g.98707792T>C | CA393697020 | IGF1R | c.325T>C (p.Trp109Arg) n.325T>C c.400T>C (p.Trp134Arg) c.-39T>C (n.-39T>C) | |
| 15 | g.98707792T>G | CA393697021 | IGF1R | c.325T>G (p.Trp109Gly) n.325T>G c.400T>G (p.Trp134Gly) c.-39T>G (n.-39T>G) | |
| 15 | g.98707793G>A | CA393697022 | IGF1R | c.326G>A (p.Trp109Ter) n.326G>A c.401G>A (p.Trp134Ter) c.-38G>A (n.-38G>A) | dbSNP |
| 15 | g.98707793G>C | CA393697023 | IGF1R | c.326G>C (p.Trp109Ser) n.326G>C c.401G>C (p.Trp134Ser) c.-38G>C (n.-38G>C) | dbSNP gnomAD v2 |
| 15 | g.98707793G= | CA2199177430 | IGF1R | c.326G= (p.Trp109=) n.326G= c.401G= (p.Trp134=) c.-38G= (n.-38G=) | |
| 15 | g.98707793G>T | CA393697024 | IGF1R | c.326G>T (p.Trp109Leu) n.326G>T c.401G>T (p.Trp134Leu) c.-38G>T (n.-38G>T) | |
| 15 | g.98707794G>A | CA393697027 | IGF1R | c.327G>A (p.Trp109Ter) n.327G>A c.402G>A (p.Trp134Ter) c.-37G>A (n.-37G>A) | |
| 15 | g.98707794G>C | CA393697025 | IGF1R | c.327G>C (p.Trp109Cys) n.327G>C c.402G>C (p.Trp134Cys) c.-37G>C (n.-37G>C) | dbSNP gnomAD v4 |
| 15 | g.98707794G>T | CA393697026 | IGF1R | c.327G>T (p.Trp109Cys) n.327G>T c.402G>T (p.Trp134Cys) c.-37G>T (n.-37G>T) | gnomAD v4 |
| 15 | g.98707795A>C | CA393697028 | IGF1R | c.328A>C (p.Lys110Gln) n.328A>C c.403A>C (p.Lys135Gln) c.-36A>C (n.-36A>C) | gnomAD v4 |
| 15 | g.98707795A>G | CA393697029 | IGF1R | c.328A>G (p.Lys110Glu) n.328A>G c.403A>G (p.Lys135Glu) c.-36A>G (n.-36A>G) | |
| 15 | g.98707795A>T | CA393697030 | IGF1R | c.328A>T (p.Lys110Ter) n.328A>T c.403A>T (p.Lys135Ter) c.-36A>T (n.-36A>T) | |
| 15 | g.98707796A>C | CA393697031 | IGF1R | c.329A>C (p.Lys110Thr) n.329A>C c.404A>C (p.Lys135Thr) c.-35A>C (n.-35A>C) | |
| 15 | g.98707796A>G | CA393697032 | IGF1R | c.329A>G (p.Lys110Arg) n.329A>G c.404A>G (p.Lys135Arg) c.-35A>G (n.-35A>G) | |
| 15 | g.98707796A>T | CA393697033 | IGF1R | c.329A>T (p.Lys110Ile) n.329A>T c.404A>T (p.Lys135Ile) c.-35A>T (n.-35A>T) | |
| 15 | g.98707797A= | CA2199177434 | IGF1R | c.330A= (p.Lys110=) n.330A= c.405A= (p.Lys135=) c.-34A= (n.-34A=) | |
| 15 | g.98707797A>C | CA393697034 | IGF1R | c.330A>C (p.Lys110Asn) n.330A>C c.405A>C (p.Lys135Asn) c.-34A>C (n.-34A>C) | |
| 15 | g.98707797A>G | CA492686269 | IGF1R | c.330A>G (p.Lys110=) n.330A>G c.405A>G (p.Lys135=) c.-34A>G (n.-34A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.98707797A>T | CA393697035 | IGF1R | c.330A>T (p.Lys110Asn) n.330A>T c.405A>T (p.Lys135Asn) c.-34A>T (n.-34A>T) | dbSNP |
| 15 | g.98707798C>A | CA393697036 | IGF1R | c.331C>A (p.Leu111Ile) n.331C>A c.406C>A (p.Leu136Ile) c.-33C>A (n.-33C>A) | dbSNP |
| 15 | g.98707798C= | CA2199177437 | IGF1R | c.331C= (p.Leu111=) n.331C= c.406C= (p.Leu136=) c.-33C= (n.-33C=) | |
| 15 | g.98707798C>G | CA393697037 | IGF1R | c.331C>G (p.Leu111Val) n.331C>G c.406C>G (p.Leu136Val) c.-33C>G (n.-33C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.98707798C>T | CA393697038 | IGF1R | c.331C>T (p.Leu111Phe) n.331C>T c.406C>T (p.Leu136Phe) c.-33C>T (n.-33C>T) | |
| 15 | g.98707800_98707801del | CA2630561970 | IGF1R | c.333_334del (p.Phe112LeufsTer?) n.333_334del c.408_409del (p.Phe137LeufsTer?) c.-31_-30del (n.-31_-30del) | gnomAD v4 |
| 15 | g.98707799T>A | CA393697040 | IGF1R | c.332T>A (p.Leu111His) n.332T>A c.407T>A (p.Leu136His) c.-32T>A (n.-32T>A) | |
| 15 | g.98707799T>C | CA393697041 | IGF1R | c.332T>C (p.Leu111Pro) n.332T>C c.407T>C (p.Leu136Pro) c.-32T>C (n.-32T>C) |