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 |
|---|---|---|---|---|---|
| 16 | g.171847_181556del | CA916083461 | ClinVar | ||
| 16 | g.172001_181401del | CA916083462 | ClinVar | ||
| 16 | g.172005_177200del | CA16602274 | ClinVar | ||
| 16 | g.173384_177187del | CA16602246 | ClinVar | ||
| 16 | g.176943_176946delinsTCCC | CA2200882983 | HBA1 | c.110_113delinsTCCC (p.Phe37=) c.14_17delinsTCCC (p.Phe5=) n.246_249delinsTCCC n.79_82delinsTCCC | |
| 16 | g.176947del | CA718606357 | HBA1 | c.114del (p.Thr39ProfsTer11) c.18del (p.Thr7ProfsTer11) n.250del n.83del | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.176945_176947del | CA276416661 | HBA1 | c.112_114del (p.Pro38del) c.16_18del (p.Pro6del) n.248_250del n.81_83del | dbSNP |
| 16 | g.176945_176948delinsCCCA | CA2200882985 | HBA1 | c.112_115delinsCCCA (p.Pro38=) c.16_19delinsCCCA (p.Pro6=) n.248_251delinsCCCA n.81_84delinsCCCA | |
| 16 | g.176946C>A | CA393995073 | HBA1 | c.113C>A (p.Pro38His) c.17C>A (p.Pro6His) n.249C>A n.82C>A | |
| 16 | g.176946C= | CA2200882986 | HBA1 | c.113C= (p.Pro38=) c.17C= (p.Pro6=) n.249C= n.82C= | |
| 16 | g.176946C>G | CA125686 | HBA1 | c.113C>G (p.Pro38Arg) c.17C>G (p.Pro6Arg) n.249C>G n.82C>G | ClinVar dbSNP |
| 16 | g.176946C>T | CA276416673 | HBA1 | c.113C>T (p.Pro38Leu) c.17C>T (p.Pro6Leu) n.249C>T n.82C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.176952_176954del | CA125965 | HBA1 | c.119_121del (p.Thr40del) c.23_25del (p.Thr8del) n.255_257del n.88_90del | ClinVar dbSNP gnomAD v4 |
| 16 | g.176947C>A | CA492994431 | HBA1 | c.114C>A (p.Pro38=) c.18C>A (p.Pro6=) n.250C>A n.83C>A | |
| 16 | g.176947C= | CA2200882987 | HBA1 | c.114C= (p.Pro38=) c.18C= (p.Pro6=) n.250C= n.83C= | |
| 16 | g.176947C>G | CA492994436 | HBA1 | c.114C>G (p.Pro38=) c.18C>G (p.Pro6=) n.250C>G n.83C>G | |
| 16 | g.176947C>T | CA492994433 | HBA1 | c.114C>T (p.Pro38=) c.18C>T (p.Pro6=) n.250C>T n.83C>T | gnomAD v4 |
| 16 | g.176947_176948insGAA | CA125690 | HBA1 | c.114_115insGAA (p.Pro38_Thr39insGlu) c.18_19insGAA (p.Pro6_Thr7insGlu) n.250_251insGAA n.83_84insGAA | ClinVar dbSNP |
| 16 | g.176948A= | CA2200882988 | HBA1 | c.115A= (p.Thr39=) c.19A= (p.Thr7=) n.251A= n.84A= | |
| 16 | g.176948A>C | CA393995074 | HBA1 | c.115A>C (p.Thr39Pro) c.19A>C (p.Thr7Pro) n.251A>C n.84A>C | gnomAD v3 gnomAD v4 |
| 16 | g.176948A>G | CA276416679 | HBA1 | c.115A>G (p.Thr39Ala) c.19A>G (p.Thr7Ala) n.251A>G n.84A>G | dbSNP |
| 16 | g.176948A>T | CA393995075 | HBA1 | c.115A>T (p.Thr39Ser) c.19A>T (p.Thr7Ser) n.251A>T n.84A>T | |
| 16 | g.176949C>A | CA393995076 | HBA1 | c.116C>A (p.Thr39Asn) c.20C>A (p.Thr7Asn) n.252C>A n.85C>A | dbSNP |
| 16 | g.176949C= | CA2200882989 | HBA1 | c.116C= (p.Thr39=) c.20C= (p.Thr7=) n.252C= n.85C= | |
| 16 | g.176949C>G | CA393995077 | HBA1 | c.116C>G (p.Thr39Ser) c.20C>G (p.Thr7Ser) n.252C>G n.85C>G | |
| 16 | g.176949C>T | CA276416685 | HBA1 | c.116C>T (p.Thr39Ile) c.20C>T (p.Thr7Ile) n.252C>T n.85C>T | dbSNP |
| 16 | g.176950C>A | CA492994438 | HBA1 | c.117C>A (p.Thr39=) c.21C>A (p.Thr7=) n.253C>A n.86C>A | |
| 16 | g.176950C>G | CA492994439 | HBA1 | c.117C>G (p.Thr39=) c.21C>G (p.Thr7=) n.253C>G n.86C>G | |
| 16 | g.176950C>T | CA492994440 | HBA1 | c.117C>T (p.Thr39=) c.21C>T (p.Thr7=) n.253C>T n.86C>T | |
| 16 | g.176951A= | CA2200882990 | HBA1 | c.118A= (p.Thr40=) c.22A= (p.Thr8=) n.254A= n.87A= | |
| 16 | g.176951A>C | CA393995078 | HBA1 | c.118A>C (p.Thr40Pro) c.22A>C (p.Thr8Pro) n.254A>C n.87A>C | gnomAD v4 |
| 16 | g.176951A>G | CA393995079 | HBA1 | c.118A>G (p.Thr40Ala) c.22A>G (p.Thr8Ala) n.254A>G n.87A>G | dbSNP |
| 16 | g.176951A>T | CA393995080 | HBA1 | c.118A>T (p.Thr40Ser) c.22A>T (p.Thr8Ser) n.254A>T n.87A>T | dbSNP |
| 16 | g.176954_176959del | CA2695221230 | HBA1 | c.121_126del (p.Lys41_Thr42del) c.25_30del (p.Lys9_Thr10del) n.257_262del n.90_95del | |
| 16 | g.176952C>A | CA393995083 | HBA1 | c.119C>A (p.Thr40Asn) c.23C>A (p.Thr8Asn) n.255C>A n.88C>A | |
| 16 | g.176952C>G | CA393995082 | HBA1 | c.119C>G (p.Thr40Ser) c.23C>G (p.Thr8Ser) n.255C>G n.88C>G | |
| 16 | g.176952C>T | CA393995081 | HBA1 | c.119C>T (p.Thr40Ile) c.23C>T (p.Thr8Ile) n.255C>T n.88C>T | gnomAD v4 |
| 16 | g.176953C>A | CA492994447 | HBA1 | c.120C>A (p.Thr40=) c.24C>A (p.Thr8=) n.256C>A n.89C>A | gnomAD v4 |
| 16 | g.176953C>G | CA492994449 | HBA1 | c.120C>G (p.Thr40=) c.24C>G (p.Thr8=) n.256C>G n.89C>G | |
| 16 | g.176953C>T | CA492994450 | HBA1 | c.120C>T (p.Thr40=) c.24C>T (p.Thr8=) n.256C>T n.89C>T | |
| 16 | g.176954A= | CA2200882991 | HBA1 | c.121A= (p.Lys41=) c.25A= (p.Lys9=) n.257A= n.90A= | |
| 16 | g.176954A>C | CA393995084 | HBA1 | c.121A>C (p.Lys41Gln) c.25A>C (p.Lys9Gln) n.257A>C n.90A>C | gnomAD v4 |
| 16 | g.176954A>G | CA125799 | HBA1 | c.121A>G (p.Lys41Glu) c.25A>G (p.Lys9Glu) n.257A>G n.90A>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.176954A>T | CA393995085 | HBA1 | c.121A>T (p.Lys41Ter) c.25A>T (p.Lys9Ter) n.257A>T n.90A>T | |
| 16 | g.176955A= | CA2200882992 | HBA1 | c.122A= (p.Lys41=) c.26A= (p.Lys9=) n.258A= n.91A= | |
| 16 | g.176955A>C | CA276416691 | HBA1 | c.122A>C (p.Lys41Thr) c.26A>C (p.Lys9Thr) n.258A>C n.91A>C | dbSNP |
| 16 | g.176955A>G | CA393995086 | HBA1 | c.122A>G (p.Lys41Arg) c.26A>G (p.Lys9Arg) n.258A>G n.91A>G | |
| 16 | g.176955A>T | CA276416693 | HBA1 | c.122A>T (p.Lys41Met) c.26A>T (p.Lys9Met) n.258A>T n.91A>T | dbSNP |
| 16 | g.176956G>A | CA492994454 | HBA1 | c.123G>A (p.Lys41=) c.27G>A (p.Lys9=) n.259G>A n.92G>A | |
| 16 | g.176956G>C | CA126007 | HBA1 | c.123G>C (p.Lys41Asn) c.27G>C (p.Lys9Asn) n.259G>C n.92G>C | ClinVar dbSNP |