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.48791110_48791329del | CA645617112 | GATA1 | c.-29-734_-29-515del (n.-29-734_-29-515del) c.1_220del (p.Met1SerfsTer?) | COSMIC |
| X | g.48791193_48791292dup | CA645617130 | GATA1 | c.-29-651_-29-552dup (n.-29-651_-29-552dup) c.84_183dup (p.Tyr62ArgfsTer11) | COSMIC |
| X | g.48791234_48791330del | CA645617143 | GATA1 | c.-29-610_-29-514del (n.-29-610_-29-514del) c.125_220+1del | COSMIC |
| X | g.48791249_48791283del | CA645617148 | GATA1 | c.-29-595_-29-561del (n.-29-595_-29-561del) c.140_174del (p.Ser47CysfsTer9) | COSMIC |
| X | g.48791259_48791293del | CA645617152 | GATA1 | c.-29-585_-29-551del (n.-29-585_-29-551del) c.150_184del (p.Ser51LeufsTer5) | COSMIC |
| X | g.48791259_48791295delinsGAGCACAGCCACCGCTGCAGCTGCGGCACTGGCCTAC | CA2428390256 | GATA1 | c.-29-585_-29-549delinsGAGCACAGCCACCGCTGCAGCTGCGGCACTGGCCTAC (n.-29-585_-29-549delinsGAGCACAGCCACCGCTGCAGCTGCGGCACTGGCCTAC) c.150_186delinsGAGCACAGCCACCGCTGCAGCTGCGGCACTGGCCTAC (p.Pro50=) | |
| X | g.48791261_48791303del | CA645617153 | GATA1 | c.-29-583_-29-541del (n.-29-583_-29-541del) c.152_194del (p.Ser51ThrfsTer?) | COSMIC |
| X | g.48791260_48791295delinsT | CA2428390257 | GATA1 | c.-29-584_-29-549delinsT (n.-29-584_-29-549delinsT) c.151_186delinsT (p.Ser51LeufsTer5) | ClinVar dbSNP |
| X | g.48791265_48791287del | CA645617157 | GATA1 | c.-29-579_-29-557del (n.-29-579_-29-557del) c.156_178del (p.Ala53GlyfsTer7) | COSMIC |
| X | g.48791264_48791283dup | CA2580101158 | GATA1 | c.-29-580_-29-561dup (n.-29-580_-29-561dup) c.155_174dup (p.Ala59GlnfsTer?) | ClinVar |
| X | g.48791264_48791287delinsG | CA645617160 | GATA1 | c.-29-580_-29-557delinsG (n.-29-580_-29-557delinsG) c.155_178delinsG (p.Thr52SerfsTer8) | COSMIC |
| X | g.48791267_48791283dup | CA645617161 | GATA1 | c.-29-577_-29-561dup (n.-29-577_-29-561dup) c.158_174dup (p.Ala59ProfsTer?) | COSMIC |
| X | g.48791267_48791289del | CA645617162 | GATA1 | c.-29-577_-29-555del (n.-29-577_-29-555del) c.158_180del (p.Ala53GlyfsTer7) | COSMIC |
| X | g.48791271_48791287del | CA645617168 | GATA1 | c.-29-573_-29-557del (n.-29-573_-29-557del) c.162_178del (p.Ala55GlyfsTer7) | COSMIC |
| X | g.48791273_48791283dup | CA2580101160 | GATA1 | c.-29-571_-29-561dup (n.-29-571_-29-561dup) c.164_174dup (p.Ala59LeufsTer?) | ClinVar |
| X | g.48791272_48791290dup | CA645617174 | GATA1 | c.-29-572_-29-554dup (n.-29-572_-29-554dup) c.163_181dup (p.Ala61GlyfsTer13) | COSMIC |
| X | g.48791273_48791329del | CA645617175 | GATA1 | c.-29-571_-29-515del (n.-29-571_-29-515del) c.164_220del (p.Ala55_Pro73del) | COSMIC |
| X | g.48791275_48791296dup | CA915951047 | GATA1 | c.-29-569_-29-548dup (n.-29-569_-29-548dup) c.166_187dup (p.Tyr63CysfsTer12) | ClinVar dbSNP |
| X | g.48791276_48791283dup | CA645617176 | GATA1 | c.-29-568_-29-561dup (n.-29-568_-29-561dup) c.167_174dup (p.Ala59GlnfsTer?) | COSMIC |
| X | g.48791283G>A | CA10404549 | GATA1 | c.-29-561G>A (n.-29-561G>A) c.174G>A (p.Ala58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48791283G>C | CA516029825 | GATA1 | c.-29-561G>C (n.-29-561G>C) c.174G>C (p.Ala58=) | |
| X | g.48791283G= | CA2428390271 | GATA1 | c.-29-561G= (n.-29-561G=) c.174G= (p.Ala58=) | |
| X | g.48791283G>T | CA516029824 | GATA1 | c.-29-561G>T (n.-29-561G>T) c.174G>T (p.Ala58=) | |
| X | g.48791283_48791284insCAAAGCAGCTGCAGCGGTG | CA645617181 | GATA1 | c.-29-561_-29-560insCAAAGCAGCTGCAGCGGTG (n.-29-561_-29-560insCAAAGCAGCTGCAGCGGTG) c.174_175insCAAAGCAGCTGCAGCGGTG (p.Ala59GlnfsTer15) | COSMIC |
| X | g.48791283_48791286delinsTGCGGTGG | CA645617182 | GATA1 | c.-29-561_-29-558delinsTGCGGTGG (n.-29-561_-29-558delinsTGCGGTGG) c.174_177delinsTGCGGTGG (p.Leu60ValfsTer9) | COSMIC |
| X | g.48791283_48791294dup | CA645617180 | GATA1 | c.-29-561_-29-550dup (n.-29-561_-29-550dup) c.174_185dup (p.Tyr62Ter) | COSMIC |
| X | g.48791284_48791302dup | CA2428390270 | GATA1 | c.-29-560_-29-542dup (n.-29-560_-29-542dup) c.175_193dup (p.Asp65GlyfsTer9) | ClinVar dbSNP |
| X | g.48791283_48791302dup | CA645617179 | GATA1 | c.-29-561_-29-542dup (n.-29-561_-29-542dup) c.174_193dup (p.Asp65GlyfsTer?) | COSMIC |
| X | g.48791283_48791284insCTGCAGC | CA645617184 | GATA1 | c.-29-561_-29-560insCTGCAGC (n.-29-561_-29-560insCTGCAGC) c.174_175insCTGCAGC (p.Ala59LeufsTer11) | COSMIC |
| X | g.48791284G>A | CA412867160 | GATA1 | c.-29-560G>A (n.-29-560G>A) c.175G>A (p.Ala59Thr) | |
| X | g.48791284G>C | CA412867161 | GATA1 | c.-29-560G>C (n.-29-560G>C) c.175G>C (p.Ala59Pro) | |
| X | g.48791284G>T | CA412867162 | GATA1 | c.-29-560G>T (n.-29-560G>T) c.175G>T (p.Ala59Ser) | |
| X | g.48791287_48791288insAGCCACCGCTGCAGCTGCAC | CA645617183 | GATA1 | c.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC (n.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC) c.178_179insAGCCACCGCTGCAGCTGCAC (p.Leu60GlnfsTer?) | COSMIC |
| X | g.48791285C>A | CA412867164 | GATA1 | c.-29-559C>A (n.-29-559C>A) c.176C>A (p.Ala59Glu) | gnomAD v4 |
| X | g.48791285C= | CA2428390272 | GATA1 | c.-29-559C= (n.-29-559C=) c.176C= (p.Ala59=) | |
| X | g.48791285C>G | CA412867166 | GATA1 | c.-29-559C>G (n.-29-559C>G) c.176C>G (p.Ala59Gly) | |
| X | g.48791285C>T | CA412867168 | GATA1 | c.-29-559C>T (n.-29-559C>T) c.176C>T (p.Ala59Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.48791286_48791295dup | CA645617185 | GATA1 | c.-29-558_-29-549dup (n.-29-558_-29-549dup) c.177_186dup (p.Tyr63ThrfsTer8) | COSMIC |
| X | g.48791287_48791299dup | CA645617186 | GATA1 | c.-29-557_-29-545dup (n.-29-557_-29-545dup) c.178_190dup (p.Arg64ThrfsTer8) | COSMIC |
| X | g.48791286A>C | CA516029826 | GATA1 | c.-29-558A>C (n.-29-558A>C) c.177A>C (p.Ala59=) | |
| X | g.48791286A>G | CA516029828 | GATA1 | c.-29-558A>G (n.-29-558A>G) c.177A>G (p.Ala59=) | |
| X | g.48791286A>T | CA516029827 | GATA1 | c.-29-558A>T (n.-29-558A>T) c.177A>T (p.Ala59=) | |
| X | g.48791287C>A | CA412867169 | GATA1 | c.-29-557C>A (n.-29-557C>A) c.178C>A (p.Leu60Met) | gnomAD v4 |
| X | g.48791287C>G | CA412867171 | GATA1 | c.-29-557C>G (n.-29-557C>G) c.178C>G (p.Leu60Val) | |
| X | g.48791287C>T | CA516029829 | GATA1 | c.-29-557C>T (n.-29-557C>T) c.178C>T (p.Leu60=) | |
| X | g.48791288T>A | CA412867173 | GATA1 | c.-29-556T>A (n.-29-556T>A) c.179T>A (p.Leu60Gln) | gnomAD v4 |
| X | g.48791288T>C | CA412867175 | GATA1 | c.-29-556T>C (n.-29-556T>C) c.179T>C (p.Leu60Pro) | |
| X | g.48791288T>G | CA412867176 | GATA1 | c.-29-556T>G (n.-29-556T>G) c.179T>G (p.Leu60Arg) | |
| X | g.48791289G>A | CA516029830 | GATA1 | c.-29-555G>A (n.-29-555G>A) c.180G>A (p.Leu60=) | |
| X | g.48791289G>C | CA516029831 | GATA1 | c.-29-555G>C (n.-29-555G>C) c.180G>C (p.Leu60=) |