WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154863195del | CA2695237180 | F8 | c.6465del (p.Lys2155AsnfsTer?) c.198del (p.Lys66AsnfsTer?) c.60del (p.Lys20AsnfsTer?) c.6360del (p.Lys2120AsnfsTer?) | |
| X | g.154863194_154863195del | CA255206 | F8 | c.6464_6465del (p.Lys2155ThrfsTer5) c.197_198del (p.Lys66ThrfsTer5) c.59_60del (p.Lys20ThrfsTer5) c.6359_6360del (p.Lys2120ThrfsTer5) | ClinVar dbSNP |
| X | g.154863194T>A | CA414907844 | F8 | c.6463A>T (p.Lys2155Ter) c.196A>T (p.Lys66Ter) c.58A>T (p.Lys20Ter) c.6358A>T (p.Lys2120Ter) | |
| X | g.154863194T>C | CA414907845 | F8 | c.6463A>G (p.Lys2155Glu) c.196A>G (p.Lys66Glu) c.58A>G (p.Lys20Glu) c.6358A>G (p.Lys2120Glu) | |
| X | g.154863194T>G | CA414907847 | F8 | c.6463A>C (p.Lys2155Gln) c.196A>C (p.Lys66Gln) c.58A>C (p.Lys20Gln) c.6358A>C (p.Lys2120Gln) | |
| X | g.154863195T>A | CA519357988 | F8 | c.6462A>T (p.Ile2154=) c.195A>T (p.Ile65=) c.57A>T (p.Ile19=) c.6357A>T (p.Ile2119=) | |
| X | g.154863195T>C | CA414907850 | F8 | c.6462A>G (p.Ile2154Met) c.195A>G (p.Ile65Met) c.57A>G (p.Ile19Met) c.6357A>G (p.Ile2119Met) | |
| X | g.154863195T>G | CA519357991 | F8 | c.6462A>C (p.Ile2154=) c.195A>C (p.Ile65=) c.57A>C (p.Ile19=) c.6357A>C (p.Ile2119=) | |
| X | g.154863196A>C | CA414907851 | F8 | c.6461T>G (p.Ile2154Arg) c.194T>G (p.Ile65Arg) c.56T>G (p.Ile19Arg) c.6356T>G (p.Ile2119Arg) | |
| X | g.154863196A>G | CA414907852 | F8 | c.6461T>C (p.Ile2154Thr) c.194T>C (p.Ile65Thr) c.56T>C (p.Ile19Thr) c.6356T>C (p.Ile2119Thr) | |
| X | g.154863196A>T | CA414907854 | F8 | c.6461T>A (p.Ile2154Lys) c.194T>A (p.Ile65Lys) c.56T>A (p.Ile19Lys) c.6356T>A (p.Ile2119Lys) | |
| X | g.154863197T>A | CA414907857 | F8 | c.6460A>T (p.Ile2154Leu) c.193A>T (p.Ile65Leu) c.55A>T (p.Ile19Leu) c.6355A>T (p.Ile2119Leu) | |
| X | g.154863197T>C | CA414907859 | F8 | c.6460A>G (p.Ile2154Val) c.193A>G (p.Ile65Val) c.55A>G (p.Ile19Val) c.6355A>G (p.Ile2119Val) | |
| X | g.154863197T>G | CA414907860 | F8 | c.6460A>C (p.Ile2154Leu) c.193A>C (p.Ile65Leu) c.55A>C (p.Ile19Leu) c.6355A>C (p.Ile2119Leu) | |
| X | g.154863198C>A | CA519357995 | F8 | c.6459G>T (p.Gly2153=) c.192G>T (p.Gly64=) c.54G>T (p.Gly18=) c.6354G>T (p.Gly2118=) | |
| X | g.154863198C>G | CA519357997 | F8 | c.6459G>C (p.Gly2153=) c.192G>C (p.Gly64=) c.54G>C (p.Gly18=) c.6354G>C (p.Gly2118=) | |
| X | g.154863198C>T | CA519357996 | F8 | c.6459G>A (p.Gly2153=) c.192G>A (p.Gly64=) c.54G>A (p.Gly18=) c.6354G>A (p.Gly2118=) | |
| X | g.154863199C>A | CA414907864 | F8 | c.6458G>T (p.Gly2153Val) c.191G>T (p.Gly64Val) c.53G>T (p.Gly18Val) c.6353G>T (p.Gly2118Val) | |
| X | g.154863199C>G | CA414907866 | F8 | c.6458G>C (p.Gly2153Ala) c.191G>C (p.Gly64Ala) c.53G>C (p.Gly18Ala) c.6353G>C (p.Gly2118Ala) | |
| X | g.154863199C>T | CA414907862 | F8 | c.6458G>A (p.Gly2153Glu) c.191G>A (p.Gly64Glu) c.53G>A (p.Gly18Glu) c.6353G>A (p.Gly2118Glu) | |
| X | g.154863200C>A | CA414907880 | F8 | c.6457G>T (p.Gly2153Trp) c.190G>T (p.Gly64Trp) c.52G>T (p.Gly18Trp) c.6352G>T (p.Gly2118Trp) | COSMIC COSMIC |
| X | g.154863200C>G | CA414907871 | F8 | c.6457G>C (p.Gly2153Arg) c.190G>C (p.Gly64Arg) c.52G>C (p.Gly18Arg) c.6352G>C (p.Gly2118Arg) | |
| X | g.154863200C>T | CA414907873 | F8 | c.6457G>A (p.Gly2153Arg) c.190G>A (p.Gly64Arg) c.52G>A (p.Gly18Arg) c.6352G>A (p.Gly2118Arg) | |
| X | g.154863201A>C | CA519357999 | F8 | c.6456T>G (p.Ser2152=) c.189T>G (p.Ser63=) c.51T>G (p.Ser17=) c.6351T>G (p.Ser2117=) | |
| X | g.154863201A>G | CA519358000 | F8 | c.6456T>C (p.Ser2152=) c.189T>C (p.Ser63=) c.51T>C (p.Ser17=) c.6351T>C (p.Ser2117=) | |
| X | g.154863201A>T | CA519358001 | F8 | c.6456T>A (p.Ser2152=) c.189T>A (p.Ser63=) c.51T>A (p.Ser17=) c.6351T>A (p.Ser2117=) | |
| X | g.154863201_154863202delinsAG | CA2466815669 | F8 | c.6455_6456delinsCT (p.Ser2152=) c.188_189delinsCT (p.Ser63=) c.50_51delinsCT (p.Ser17=) c.6350_6351delinsCT (p.Ser2117=) | |
| X | g.154863202del | CA873369605 | F8 | c.6455del (p.Ser2152LeufsTer3) c.188del (p.Ser63LeufsTer3) c.50del (p.Ser17LeufsTer3) c.6350del (p.Ser2117LeufsTer3) | dbSNP |
| X | g.154863202G>A | CA414907884 | F8 | c.6455C>T (p.Ser2152Phe) c.188C>T (p.Ser63Phe) c.50C>T (p.Ser17Phe) c.6350C>T (p.Ser2117Phe) | |
| X | g.154863202G>C | CA414907885 | F8 | c.6455C>G (p.Ser2152Cys) c.188C>G (p.Ser63Cys) c.50C>G (p.Ser17Cys) c.6350C>G (p.Ser2117Cys) | |
| X | g.154863202G>T | CA414907887 | F8 | c.6455C>A (p.Ser2152Tyr) c.188C>A (p.Ser63Tyr) c.50C>A (p.Ser17Tyr) c.6350C>A (p.Ser2117Tyr) | |
| X | g.154863202_154863203delinsATAT | CA2695237181 | F8 | c.6454_6455delinsATAT (p.Ser2152IlefsTer4) c.187_188delinsATAT (p.Ser63IlefsTer4) c.49_50delinsATAT (p.Ser17IlefsTer4) c.6349_6350delinsATAT (p.Ser2117IlefsTer4) | |
| X | g.154863203A= | CA2466815671 | F8 | c.6454T= (p.Ser2152=) c.187T= (p.Ser63=) c.49T= (p.Ser17=) c.6349T= (p.Ser2117=) | |
| X | g.154863203A>C | CA414907890 | F8 | c.6454T>G (p.Ser2152Ala) c.187T>G (p.Ser63Ala) c.49T>G (p.Ser17Ala) c.6349T>G (p.Ser2117Ala) | |
| X | g.154863203A>G | CA414907892 | F8 | c.6454T>C (p.Ser2152Pro) c.187T>C (p.Ser63Pro) c.49T>C (p.Ser17Pro) c.6349T>C (p.Ser2117Pro) | ClinVar |
| X | g.154863203A>T | CA414907895 | F8 | c.6454T>A (p.Ser2152Thr) c.187T>A (p.Ser63Thr) c.49T>A (p.Ser17Thr) c.6349T>A (p.Ser2117Thr) | |
| X | g.154863204T>A | CA519358004 | F8 | c.6453A>T (p.Ser2151=) c.186A>T (p.Ser62=) c.48A>T (p.Ser16=) c.6348A>T (p.Ser2116=) | |
| X | g.154863204T>C | CA519358005 | F8 | c.6453A>G (p.Ser2151=) c.186A>G (p.Ser62=) c.48A>G (p.Ser16=) c.6348A>G (p.Ser2116=) | |
| X | g.154863204T>G | CA519358006 | F8 | c.6453A>C (p.Ser2151=) c.186A>C (p.Ser62=) c.48A>C (p.Ser16=) c.6348A>C (p.Ser2116=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154863204T= | CA2466815674 | F8 | c.6453A= (p.Ser2151=) c.186A= (p.Ser62=) c.48A= (p.Ser16=) c.6348A= (p.Ser2116=) | |
| X | g.154863204_154863205insATT | CA2466815673 | F8 | c.6453_6454insATA (p.Ser2151_Ser2152insIle) c.186_187insATA (p.Ser62_Ser63insIle) c.48_49insATA (p.Ser16_Ser17insIle) c.6348_6349insATA (p.Ser2116_Ser2117insIle) | dbSNP |
| X | g.154863205G>A | CA414907898 | F8 | c.6452C>T (p.Ser2151Leu) c.185C>T (p.Ser62Leu) c.47C>T (p.Ser16Leu) c.6347C>T (p.Ser2116Leu) | dbSNP |
| X | g.154863205G>C | CA414907900 | F8 | c.6452C>G (p.Ser2151Ter) c.185C>G (p.Ser62Ter) c.47C>G (p.Ser16Ter) c.6347C>G (p.Ser2116Ter) | |
| X | g.154863205G= | CA2466815676 | F8 | c.6452C= (p.Ser2151=) c.185C= (p.Ser62=) c.47C= (p.Ser16=) c.6347C= (p.Ser2116=) | |
| X | g.154863205G>T | CA414907901 | F8 | c.6452C>A (p.Ser2151Ter) c.185C>A (p.Ser62Ter) c.47C>A (p.Ser16Ter) c.6347C>A (p.Ser2116Ter) | dbSNP |
| X | g.154863206A= | CA2466815679 | F8 | c.6451T= (p.Ser2151=) c.184T= (p.Ser62=) c.46T= (p.Ser16=) c.6346T= (p.Ser2116=) | |
| X | g.154863206A>C | CA10567804 | F8 | c.6451T>G (p.Ser2151Ala) c.184T>G (p.Ser62Ala) c.46T>G (p.Ser16Ala) c.6346T>G (p.Ser2116Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863206A>G | CA414907905 | F8 | c.6451T>C (p.Ser2151Pro) c.184T>C (p.Ser62Pro) c.46T>C (p.Ser16Pro) c.6346T>C (p.Ser2116Pro) | |
| X | g.154863206A>T | CA414907906 | F8 | c.6451T>A (p.Ser2151Thr) c.184T>A (p.Ser62Thr) c.46T>A (p.Ser16Thr) c.6346T>A (p.Ser2116Thr) | |
| X | g.154863207A= | CA2466815681 | F8 | c.6450T= (p.Asp2150=) c.183T= (p.Asp61=) c.45T= (p.Asp15=) c.6345T= (p.Asp2115=) |