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.134415066_134415075del | CA645602537 | PHF6 | c.*699_*708del (n.*699_*708del) c.678_687del (p.Phe226LeufsTer16) c.780_789del (p.Phe260LeufsTer16) c.*392_*401del (n.*392_*401del) c.783_792del (p.Phe261LeufsTer16) c.783_792del (p.Phe261LeufsTer29) | COSMIC COSMIC COSMIC |
| X | g.134415069A>C | CA518651910 | PHF6 | c.*702A>C (n.*702A>C) c.681A>C (p.Gly227=) c.783A>C (p.Gly261=) c.*395A>C (n.*395A>C) c.786A>C (p.Gly262=) | |
| X | g.134415069A>G | CA518651912 | PHF6 | c.*702A>G (n.*702A>G) c.681A>G (p.Gly227=) c.783A>G (p.Gly261=) c.*395A>G (n.*395A>G) c.786A>G (p.Gly262=) | dbSNP |
| X | g.134415069A>T | CA518651914 | PHF6 | c.*702A>T (n.*702A>T) c.681A>T (p.Gly227=) c.783A>T (p.Gly261=) c.*395A>T (n.*395A>T) c.786A>T (p.Gly262=) | |
| X | g.134415070G>A | CA414713224 | PHF6 | c.*703G>A (n.*703G>A) c.682G>A (p.Asp228Asn) c.784G>A (p.Asp262Asn) c.*396G>A (n.*396G>A) c.787G>A (p.Asp263Asn) | |
| X | g.134415070G>C | CA414713225 | PHF6 | c.*703G>C (n.*703G>C) c.682G>C (p.Asp228His) c.784G>C (p.Asp262His) c.*396G>C (n.*396G>C) c.787G>C (p.Asp263His) | |
| X | g.134415070G>T | CA414713226 | PHF6 | c.*703G>T (n.*703G>T) c.682G>T (p.Asp228Tyr) c.784G>T (p.Asp262Tyr) c.*396G>T (n.*396G>T) c.787G>T (p.Asp263Tyr) | |
| X | g.134415071A>C | CA414713228 | PHF6 | c.*704A>C (n.*704A>C) c.683A>C (p.Asp228Ala) c.785A>C (p.Asp262Ala) c.*397A>C (n.*397A>C) c.788A>C (p.Asp263Ala) | |
| X | g.134415071A>G | CA414713229 | PHF6 | c.*704A>G (n.*704A>G) c.683A>G (p.Asp228Gly) c.785A>G (p.Asp262Gly) c.*397A>G (n.*397A>G) c.788A>G (p.Asp263Gly) | |
| X | g.134415071A>T | CA414713227 | PHF6 | c.*704A>T (n.*704A>T) c.683A>T (p.Asp228Val) c.785A>T (p.Asp262Val) c.*397A>T (n.*397A>T) c.788A>T (p.Asp263Val) | COSMIC COSMIC COSMIC |
| X | g.134415072C>A | CA414713231 | PHF6 | c.*705C>A (n.*705C>A) c.684C>A (p.Asp228Glu) c.786C>A (p.Asp262Glu) c.*398C>A (n.*398C>A) c.789C>A (p.Asp263Glu) | |
| X | g.134415072C= | CA2459717803 | PHF6 | c.*705C= (n.*705C=) c.684C= (p.Asp228=) c.786C= (p.Asp262=) c.*398C= (n.*398C=) c.789C= (p.Asp263=) | |
| X | g.134415072C>G | CA414713230 | PHF6 | c.*705C>G (n.*705C>G) c.684C>G (p.Asp228Glu) c.786C>G (p.Asp262Glu) c.*398C>G (n.*398C>G) c.789C>G (p.Asp263Glu) | |
| X | g.134415072C>T | CA336029410 | PHF6 | c.*705C>T (n.*705C>T) c.684C>T (p.Asp228=) c.786C>T (p.Asp262=) c.*398C>T (n.*398C>T) c.789C>T (p.Asp263=) | dbSNP gnomAD v4 |
| X | g.134415073T>A | CA414713232 | PHF6 | c.*706T>A (n.*706T>A) c.685T>A (p.Phe229Ile) c.787T>A (p.Phe263Ile) c.*399T>A (n.*399T>A) c.790T>A (p.Phe264Ile) | |
| X | g.134415073T>C | CA414713233 | PHF6 | c.*706T>C (n.*706T>C) c.685T>C (p.Phe229Leu) c.787T>C (p.Phe263Leu) c.*399T>C (n.*399T>C) c.790T>C (p.Phe264Leu) | |
| X | g.134415073T>G | CA414713234 | PHF6 | c.*706T>G (n.*706T>G) c.685T>G (p.Phe229Val) c.787T>G (p.Phe263Val) c.*399T>G (n.*399T>G) c.790T>G (p.Phe264Val) | |
| X | g.134415075dup | CA518651921 | PHF6 | c.*708dup (n.*708dup) c.687dup (p.Asp230Ter) c.789dup (p.Asp264Ter) c.*401dup (n.*401dup) c.792dup (p.Asp265Ter) | COSMIC COSMIC |
| X | g.134415074T>A | CA414713235 | PHF6 | c.*707T>A (n.*707T>A) c.686T>A (p.Phe229Tyr) c.788T>A (p.Phe263Tyr) c.*400T>A (n.*400T>A) c.791T>A (p.Phe264Tyr) | |
| X | g.134415074T>C | CA414713236 | PHF6 | c.*707T>C (n.*707T>C) c.686T>C (p.Phe229Ser) c.788T>C (p.Phe263Ser) c.*400T>C (n.*400T>C) c.791T>C (p.Phe264Ser) | |
| X | g.134415074T>G | CA414713237 | PHF6 | c.*707T>G (n.*707T>G) c.686T>G (p.Phe229Cys) c.788T>G (p.Phe263Cys) c.*400T>G (n.*400T>G) c.791T>G (p.Phe264Cys) | |
| X | g.134415074_134415075insCCGTC | CA645602539 | PHF6 | c.*707_*708insCCGTC (n.*707_*708insCCGTC) c.686_687insCCGTC (p.Asp230ArgfsTer17) c.788_789insCCGTC (p.Asp264ArgfsTer17) c.*400_*401insCCGTC (n.*400_*401insCCGTC) c.791_792insCCGTC (p.Asp265ArgfsTer17) c.791_792insCCGTC (p.Asp265ArgfsTer30) | COSMIC |
| X | g.134415075T>A | CA414713238 | PHF6 | c.*708T>A (n.*708T>A) c.687T>A (p.Phe229Leu) c.789T>A (p.Phe263Leu) c.*401T>A (n.*401T>A) c.792T>A (p.Phe264Leu) | |
| X | g.134415075T>C | CA518651927 | PHF6 | c.*708T>C (n.*708T>C) c.687T>C (p.Phe229=) c.789T>C (p.Phe263=) c.*401T>C (n.*401T>C) c.792T>C (p.Phe264=) | |
| X | g.134415075T>G | CA414713239 | PHF6 | c.*708T>G (n.*708T>G) c.687T>G (p.Phe229Leu) c.789T>G (p.Phe263Leu) c.*401T>G (n.*401T>G) c.792T>G (p.Phe264Leu) | |
| X | g.134415076G>A | CA414713240 | PHF6 | c.*709G>A (n.*709G>A) c.688G>A (p.Asp230Asn) c.790G>A (p.Asp264Asn) c.*402G>A (n.*402G>A) c.793G>A (p.Asp265Asn) | |
| X | g.134415076G>C | CA414713241 | PHF6 | c.*709G>C (n.*709G>C) c.688G>C (p.Asp230His) c.790G>C (p.Asp264His) c.*402G>C (n.*402G>C) c.793G>C (p.Asp265His) | COSMIC COSMIC |
| X | g.134415076G>T | CA414713242 | PHF6 | c.*709G>T (n.*709G>T) c.688G>T (p.Asp230Tyr) c.790G>T (p.Asp264Tyr) c.*402G>T (n.*402G>T) c.793G>T (p.Asp265Tyr) | |
| X | g.134415076_134415077insCG | CA645602540 | PHF6 | c.*709_*710insCG (n.*709_*710insCG) c.688_689insCG (p.Asp230AlafsTer16) c.790_791insCG (p.Asp264AlafsTer16) c.*402_*403insCG (n.*402_*403insCG) c.793_794insCG (p.Asp265AlafsTer16) c.793_794insCG (p.Asp265AlafsTer29) | COSMIC COSMIC COSMIC |
| X | g.134415077A>C | CA414713245 | PHF6 | c.*710A>C (n.*710A>C) c.689A>C (p.Asp230Ala) c.791A>C (p.Asp264Ala) c.*403A>C (n.*403A>C) c.794A>C (p.Asp265Ala) | |
| X | g.134415077A>G | CA414713244 | PHF6 | c.*710A>G (n.*710A>G) c.689A>G (p.Asp230Gly) c.791A>G (p.Asp264Gly) c.*403A>G (n.*403A>G) c.794A>G (p.Asp265Gly) | |
| X | g.134415077A>T | CA414713243 | PHF6 | c.*710A>T (n.*710A>T) c.689A>T (p.Asp230Val) c.791A>T (p.Asp264Val) c.*403A>T (n.*403A>T) c.794A>T (p.Asp265Val) | |
| X | g.134415078T>A | CA414713246 | PHF6 | c.*711T>A (n.*711T>A) c.690T>A (p.Asp230Glu) c.792T>A (p.Asp264Glu) c.*404T>A (n.*404T>A) c.795T>A (p.Asp265Glu) | |
| X | g.134415078T>C | CA518651933 | PHF6 | c.*711T>C (n.*711T>C) c.690T>C (p.Asp230=) c.792T>C (p.Asp264=) c.*404T>C (n.*404T>C) c.795T>C (p.Asp265=) | |
| X | g.134415078T>G | CA414713247 | PHF6 | c.*711T>G (n.*711T>G) c.690T>G (p.Asp230Glu) c.792T>G (p.Asp264Glu) c.*404T>G (n.*404T>G) c.795T>G (p.Asp265Glu) | |
| X | g.134415079A= | CA2459717804 | PHF6 | c.*712A= (n.*712A=) c.691A= (p.Ile231=) c.793A= (p.Ile265=) c.*405A= (n.*405A=) c.796A= (p.Ile266=) | |
| X | g.134415079A>C | CA414713248 | PHF6 | c.*712A>C (n.*712A>C) c.691A>C (p.Ile231Leu) c.793A>C (p.Ile265Leu) c.*405A>C (n.*405A>C) c.796A>C (p.Ile266Leu) | |
| X | g.134415079A>G | CA414713249 | PHF6 | c.*712A>G (n.*712A>G) c.691A>G (p.Ile231Val) c.793A>G (p.Ile265Val) c.*405A>G (n.*405A>G) c.796A>G (p.Ile266Val) | dbSNP |
| X | g.134415079A>T | CA414713250 | PHF6 | c.*712A>T (n.*712A>T) c.691A>T (p.Ile231Phe) c.793A>T (p.Ile265Phe) c.*405A>T (n.*405A>T) c.796A>T (p.Ile266Phe) | |
| X | g.134415079_134415080insG | CA2573332016 | PHF6 | c.*712_*713insG (n.*712_*713insG) c.691_692insG (p.Ile231SerfsTer2) c.793_794insG (p.Ile265SerfsTer2) c.*405_*406insG (n.*405_*406insG) c.796_797insG (p.Ile266SerfsTer2) | |
| X | g.134415080T>A | CA414713251 | PHF6 | c.*713T>A (n.*713T>A) c.692T>A (p.Ile231Asn) c.794T>A (p.Ile265Asn) c.*406T>A (n.*406T>A) c.797T>A (p.Ile266Asn) | |
| X | g.134415080T>C | CA414713252 | PHF6 | c.*713T>C (n.*713T>C) c.692T>C (p.Ile231Thr) c.794T>C (p.Ile265Thr) c.*406T>C (n.*406T>C) c.797T>C (p.Ile266Thr) | |
| X | g.134415080T>G | CA414713253 | PHF6 | c.*713T>G (n.*713T>G) c.692T>G (p.Ile231Ser) c.794T>G (p.Ile265Ser) c.*406T>G (n.*406T>G) c.797T>G (p.Ile266Ser) | |
| X | g.134415081T>A | CA518651938 | PHF6 | c.*714T>A (n.*714T>A) c.693T>A (p.Ile231=) c.795T>A (p.Ile265=) c.*407T>A (n.*407T>A) c.798T>A (p.Ile266=) | |
| X | g.134415081T>C | CA518651939 | PHF6 | c.*714T>C (n.*714T>C) c.693T>C (p.Ile231=) c.795T>C (p.Ile265=) c.*407T>C (n.*407T>C) c.798T>C (p.Ile266=) | |
| X | g.134415081T>G | CA414713254 | PHF6 | c.*714T>G (n.*714T>G) c.693T>G (p.Ile231Met) c.795T>G (p.Ile265Met) c.*407T>G (n.*407T>G) c.798T>G (p.Ile266Met) | |
| X | g.134415082A>C | CA414713255 | PHF6 | c.*715A>C (n.*715A>C) c.694A>C (p.Lys232Gln) c.796A>C (p.Lys266Gln) c.*408A>C (n.*408A>C) c.799A>C (p.Lys267Gln) | |
| X | g.134415082A>G | CA414713256 | PHF6 | c.*715A>G (n.*715A>G) c.694A>G (p.Lys232Glu) c.796A>G (p.Lys266Glu) c.*408A>G (n.*408A>G) c.799A>G (p.Lys267Glu) | |
| X | g.134415082A>T | CA414713257 | PHF6 | c.*715A>T (n.*715A>T) c.694A>T (p.Lys232Ter) c.796A>T (p.Lys266Ter) c.*408A>T (n.*408A>T) c.799A>T (p.Lys267Ter) | |
| X | g.134415085dup | CA2823680750 | PHF6 | c.*718dup (n.*718dup) c.697dup (p.Thr233AsnfsTer7) c.799dup (p.Thr267AsnfsTer7) c.*411dup (n.*411dup) c.802dup (p.Thr268AsnfsTer7) |