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 |
|---|---|---|---|---|---|
| 11 | g.5226638_5234052del | CA124669 | ClinVar | ||
| 11 | g.5226914_5234326del | CA124673 | ClinVar | ||
| 11 | g.5233991C>A | CA124705 | HBD | c.315G>T (p.Arg105Ser) c.92+351G>T (n.92+351G>T) | ClinVar dbSNP |
| 11 | g.5233991C= | CA1949564854 | HBD | c.315G= (p.Arg105=) c.92+351G= (n.92+351G=) | |
| 11 | g.5233991C>G | CA379276706 | HBD | c.315G>C (p.Arg105Ser) c.92+351G>C (n.92+351G>C) | |
| 11 | g.5233991C>T | CA472885870 | HBD | c.315G>A (p.Arg105=) c.92+351G>A (n.92+351G>A) | dbSNP gnomAD v4 |
| 11 | g.5233992C>A | CA379276707 | HBD | c.314G>T (p.Arg105Met) c.92+350G>T (n.92+350G>T) | |
| 11 | g.5233992C= | CA1949564861 | HBD | c.314G= (p.Arg105=) c.92+350G= (n.92+350G=) | |
| 11 | g.5233992C>G | CA379276708 | HBD | c.314G>C (p.Arg105Thr) c.92+350G>C (n.92+350G>C) | |
| 11 | g.5233992C>T | CA5839927 | HBD | c.314G>A (p.Arg105Lys) c.92+350G>A (n.92+350G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233993T>A | CA379276710 | HBD | c.313A>T (p.Arg105Trp) c.92+349A>T (n.92+349A>T) c.313A>T | |
| 11 | g.5233993T>C | CA379276709 | HBD | c.313A>G (p.Arg105Gly) c.92+349A>G (n.92+349A>G) c.313A>G | COSMIC |
| 11 | g.5233993T>G | CA472885871 | HBD | c.313A>C (p.Arg105=) c.92+349A>C (n.92+349A>C) c.313A>C | dbSNP |
| 11 | g.5233993T= | CA1949564865 | HBD | c.313A= (p.Arg105=) c.92+349A= (n.92+349A=) c.313A= | |
| 11 | g.5233994G>A | CA472885872 | HBD | c.312C>T (p.Phe104=) c.92+348C>T (n.92+348C>T) | |
| 11 | g.5233994G>C | CA379276711 | HBD | c.312C>G (p.Phe104Leu) c.92+348C>G (n.92+348C>G) | |
| 11 | g.5233994G>T | CA379276712 | HBD | c.312C>A (p.Phe104Leu) c.92+348C>A (n.92+348C>A) | |
| 11 | g.5233995A>C | CA379276713 | HBD | c.311T>G (p.Phe104Cys) c.92+347T>G (n.92+347T>G) | |
| 11 | g.5233995A>G | CA379276714 | HBD | c.311T>C (p.Phe104Ser) c.92+347T>C (n.92+347T>C) | |
| 11 | g.5233995A>T | CA379276715 | HBD | c.311T>A (p.Phe104Tyr) c.92+347T>A (n.92+347T>A) | |
| 11 | g.5233996A>C | CA379276716 | HBD | c.310T>G (p.Phe104Val) c.92+346T>G (n.92+346T>G) | |
| 11 | g.5233996A>G | CA379276717 | HBD | c.310T>C (p.Phe104Leu) c.92+346T>C (n.92+346T>C) | |
| 11 | g.5233996A>T | CA379276718 | HBD | c.310T>A (p.Phe104Ile) c.92+346T>A (n.92+346T>A) | |
| 11 | g.5233997G>A | CA472885873 | HBD | c.309C>T (p.Asn103=) c.92+345C>T (n.92+345C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5233997G>C | CA379276719 | HBD | c.309C>G (p.Asn103Lys) c.92+345C>G (n.92+345C>G) | |
| 11 | g.5233997G= | CA1949564868 | HBD | c.309C= (p.Asn103=) c.92+345C= (n.92+345C=) | |
| 11 | g.5233997G>T | CA379276720 | HBD | c.309C>A (p.Asn103Lys) c.92+345C>A (n.92+345C>A) | |
| 11 | g.5233998T>A | CA379276721 | HBD | c.308A>T (p.Asn103Ile) c.92+344A>T (n.92+344A>T) | |
| 11 | g.5233998T>C | CA379276722 | HBD | c.308A>G (p.Asn103Ser) c.92+344A>G (n.92+344A>G) | |
| 11 | g.5233998T>G | CA379276723 | HBD | c.308A>C (p.Asn103Thr) c.92+344A>C (n.92+344A>C) | |
| 11 | g.5233999T>A | CA379276725 | HBD | c.307A>T (p.Asn103Tyr) c.92+343A>T (n.92+343A>T) | |
| 11 | g.5233999T>C | CA379276726 | HBD | c.307A>G (p.Asn103Asp) c.92+343A>G (n.92+343A>G) | |
| 11 | g.5233999T>G | CA379276724 | HBD | c.307A>C (p.Asn103His) c.92+343A>C (n.92+343A>C) | |
| 11 | g.5234000C>A | CA379276728 | HBD | c.306G>T (p.Glu102Asp) c.92+342G>T (n.92+342G>T) | COSMIC |
| 11 | g.5234000C= | CA1949564871 | HBD | c.306G= (p.Glu102=) c.92+342G= (n.92+342G=) | |
| 11 | g.5234000C>G | CA379276727 | HBD | c.306G>C (p.Glu102Asp) c.92+342G>C (n.92+342G>C) | gnomAD v4 |
| 11 | g.5234000C>T | CA472885874 | HBD | c.306G>A (p.Glu102=) c.92+342G>A (n.92+342G>A) | dbSNP gnomAD v4 |
| 11 | g.5234001T>A | CA379276729 | HBD | c.305A>T (p.Glu102Val) c.92+341A>T (n.92+341A>T) | |
| 11 | g.5234001T>C | CA379276730 | HBD | c.305A>G (p.Glu102Gly) c.92+341A>G (n.92+341A>G) | dbSNP |
| 11 | g.5234001T>G | CA379276731 | HBD | c.305A>C (p.Glu102Ala) c.92+341A>C (n.92+341A>C) | |
| 11 | g.5234001T= | CA1949564874 | HBD | c.305A= (p.Glu102=) c.92+341A= (n.92+341A=) | |
| 11 | g.5234002C>A | CA379276732 | HBD | c.304G>T (p.Glu102Ter) c.92+340G>T (n.92+340G>T) | |
| 11 | g.5234002C>G | CA379276733 | HBD | c.304G>C (p.Glu102Gln) c.92+340G>C (n.92+340G>C) | |
| 11 | g.5234002C>T | CA379276734 | HBD | c.304G>A (p.Glu102Lys) c.92+340G>A (n.92+340G>A) | |
| 11 | g.5234003A>C | CA472885875 | HBD | c.303T>G (p.Pro101=) c.92+339T>G (n.92+339T>G) | |
| 11 | g.5234003A>G | CA472885876 | HBD | c.303T>C (p.Pro101=) c.92+339T>C (n.92+339T>C) | |
| 11 | g.5234003A>T | CA472885877 | HBD | c.303T>A (p.Pro101=) c.92+339T>A (n.92+339T>A) | |
| 11 | g.5234004G>A | CA379276735 | HBD | c.302C>T (p.Pro101Leu) c.92+338C>T (n.92+338C>T) | gnomAD v4 |
| 11 | g.5234004G>C | CA379276736 | HBD | c.302C>G (p.Pro101Arg) c.92+338C>G (n.92+338C>G) | |
| 11 | g.5234004G>T | CA379276737 | HBD | c.302C>A (p.Pro101His) c.92+338C>A (n.92+338C>A) |