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 |
|---|---|---|---|---|---|
| 12 | g.109574806_109574898delinsTAGGATTCCCAGGAGCCATGTTGTCAGAAGTCCTACTGGTGTCTGCTCCGGGGAAAGTCATCCTTCATGGAGAACATGCCGTGGTACATGGCA | CA2062460088 | MVK | c.-92+933_-92+1025delinsTAGGATTCCCAGGAGCCATGTTGTCAGAAGTCCTACTGGTGTCTGCTCCGGGGAAAGTCATCCTTCATGGAGAACATGCCGTGGTACATGGCA (n.-92+933_-92+1025delinsTAGGATTCCCAGGAGCCATGTTGTCAGAAGTCCTACTGGTGTCTGCTCCGGGGAAAGTCATCCTTCATGGAGAACATGCCGTGGTACATGGCA) c.-14-3_76delinsTAGGATTCCCAGGAGCCATGTTGTCAGAAGTCCTACTGGTGTCTGCTCCGGGGAAAGTCATCCTTCATGGAGAACATGCCGTGGTACATGGCA c.-17_76delinsTAGGATTCCCAGGAGCCATGTTGTCAGAAGTCCTACTGGTGTCTGCTCCGGGGAAAGTCATCCTTCATGGAGAACATGCCGTGGTACATGGCA n.232-3_321delinsTAGGATTCCCAGGAGCCATGTTGTCAGAAGTCCTACTGGTGTCTGCTCCGGGGAAAGTCATCCTTCATGGAGAACATGCCGTGGTACATGGCA c.-5-12_76delinsTAGGATTCCCAGGAGCCATGTTGTCAGAAGTCCTACTGGTGTCTGCTCCGGGGAAAGTCATCCTTCATGGAGAACATGCCGTGGTACATGGCA | |
| 12 | g.109574810_109574901del | CA149763 | MVK | c.-92+937_-92+1028del (n.-92+937_-92+1028del) c.-13_78+1del n.233_323+1del c.-5-8_78+1del | ClinVar dbSNP |
| 12 | g.109574812_109574900del | CA2695217242 | MVK | c.-92+939_-92+1027del (n.-92+939_-92+1027del) c.-11_78del n.235_323del c.-5-6_78del | |
| 12 | g.109574837_109574856delinsCCTACTGGTGTCTGCTCCGG | CA2062460122 | MVK | c.-92+964_-92+983delinsCCTACTGGTGTCTGCTCCGG (n.-92+964_-92+983delinsCCTACTGGTGTCTGCTCCGG) c.15_34delinsCCTACTGGTGTCTGCTCCGG (p.Val5=) n.15_34delinsCCTACTGGTGTCTGCTCCGG c.1_20delinsCCTACTGGTGTCTGCTCCGG c.8_27delinsCCTACTGGTGTCTGCTCCGG n.260_279delinsCCTACTGGTGTCTGCTCCGG | |
| 12 | g.109574838_109574856del | CA212930 | MVK | c.-92+965_-92+983del (n.-92+965_-92+983del) c.16_34del (p.Leu6GlyfsTer16) n.16_34del c.2_20del c.9_27del n.261_279del | ClinVar dbSNP |
| 12 | g.109574847T>A | CA386642694 | MVK | c.-92+974T>A (n.-92+974T>A) c.25T>A (p.Ser9Thr) n.25T>A c.11T>A c.18T>A n.270T>A | gnomAD v4 |
| 12 | g.109574847T>C | CA386642698 | MVK | c.-92+974T>C (n.-92+974T>C) c.25T>C (p.Ser9Pro) n.25T>C c.11T>C c.18T>C n.270T>C | |
| 12 | g.109574847T>G | CA386642699 | MVK | c.-92+974T>G (n.-92+974T>G) c.25T>G (p.Ser9Ala) n.25T>G c.11T>G c.18T>G n.270T>G | |
| 12 | g.109574848C>A | CA386642700 | MVK | c.-92+975C>A (n.-92+975C>A) c.26C>A (p.Ser9Tyr) n.26C>A c.12C>A c.19C>A n.271C>A | |
| 12 | g.109574848C>G | CA386642701 | MVK | c.-92+975C>G (n.-92+975C>G) c.26C>G (p.Ser9Cys) n.26C>G c.12C>G c.19C>G n.271C>G | |
| 12 | g.109574848C>T | CA386642702 | MVK | c.-92+975C>T (n.-92+975C>T) c.26C>T (p.Ser9Phe) n.26C>T c.12C>T c.19C>T n.271C>T | |
| 12 | g.109574849T>A | CA481712960 | MVK | c.-92+976T>A (n.-92+976T>A) c.27T>A (p.Ser9=) n.27T>A c.13T>A c.20T>A n.272T>A | |
| 12 | g.109574849T>C | CA481712961 | MVK | c.-92+976T>C (n.-92+976T>C) c.27T>C (p.Ser9=) n.27T>C c.13T>C c.20T>C n.272T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109574849T>G | CA481712962 | MVK | c.-92+976T>G (n.-92+976T>G) c.27T>G (p.Ser9=) n.27T>G c.13T>G c.20T>G n.272T>G | |
| 12 | g.109574849T= | CA2062460144 | MVK | c.-92+976T= (n.-92+976T=) c.27T= (p.Ser9=) n.27T= c.13T= c.20T= n.272T= | |
| 12 | g.109574850G>A | CA386642706 | MVK | c.-92+977G>A (n.-92+977G>A) c.28G>A (p.Ala10Thr) n.28G>A c.14G>A c.21G>A n.273G>A | |
| 12 | g.109574850G>C | CA386642707 | MVK | c.-92+977G>C (n.-92+977G>C) c.28G>C (p.Ala10Pro) n.28G>C c.14G>C c.21G>C n.273G>C | |
| 12 | g.109574850G>T | CA386642708 | MVK | c.-92+977G>T (n.-92+977G>T) c.28G>T (p.Ala10Ser) n.28G>T c.14G>T c.21G>T n.273G>T | |
| 12 | g.109574851C>A | CA386642711 | MVK | c.-92+978C>A (n.-92+978C>A) c.29C>A (p.Ala10Asp) n.29C>A c.15C>A c.22C>A n.274C>A | |
| 12 | g.109574851C= | CA2062460146 | MVK | c.-92+978C= (n.-92+978C=) c.29C= (p.Ala10=) n.29C= c.15C= c.22C= n.274C= | |
| 12 | g.109574851C>G | CA386642710 | MVK | c.-92+978C>G (n.-92+978C>G) c.29C>G (p.Ala10Gly) n.29C>G c.15C>G c.22C>G n.274C>G | |
| 12 | g.109574851C>T | CA386642709 | MVK | c.-92+978C>T (n.-92+978C>T) c.29C>T (p.Ala10Val) n.29C>T c.15C>T c.22C>T n.274C>T | ClinVar dbSNP |
| 12 | g.109574852T>A | CA481712963 | MVK | c.-92+979T>A (n.-92+979T>A) c.30T>A (p.Ala10=) n.30T>A c.16T>A c.23T>A n.275T>A | |
| 12 | g.109574852T>C | CA481712964 | MVK | c.-92+979T>C (n.-92+979T>C) c.30T>C (p.Ala10=) n.30T>C c.16T>C c.23T>C n.275T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109574852T>G | CA481712965 | MVK | c.-92+979T>G (n.-92+979T>G) c.30T>G (p.Ala10=) n.30T>G c.16T>G c.23T>G n.275T>G | |
| 12 | g.109574852T= | CA2062460150 | MVK | c.-92+979T= (n.-92+979T=) c.30T= (p.Ala10=) n.30T= c.16T= c.23T= n.275T= | |
| 12 | g.109574853C>A | CA386642713 | MVK | c.-92+980C>A (n.-92+980C>A) c.31C>A (p.Pro11Thr) n.31C>A c.17C>A c.24C>A n.276C>A | |
| 12 | g.109574853C>G | CA386642727 | MVK | c.-92+980C>G (n.-92+980C>G) c.31C>G (p.Pro11Ala) n.31C>G c.17C>G c.24C>G n.276C>G | |
| 12 | g.109574853C>T | CA386642728 | MVK | c.-92+980C>T (n.-92+980C>T) c.31C>T (p.Pro11Ser) n.31C>T c.17C>T c.24C>T n.276C>T | gnomAD v4 |
| 12 | g.109574854C>A | CA386642729 | MVK | c.-92+981C>A (n.-92+981C>A) c.32C>A (p.Pro11Gln) n.32C>A c.18C>A c.25C>A n.277C>A | |
| 12 | g.109574854C= | CA2062460152 | MVK | c.-92+981C= (n.-92+981C=) c.32C= (p.Pro11=) n.32C= c.18C= c.25C= n.277C= | |
| 12 | g.109574854C>G | CA386642730 | MVK | c.-92+981C>G (n.-92+981C>G) c.32C>G (p.Pro11Arg) n.32C>G c.18C>G c.25C>G n.277C>G | |
| 12 | g.109574854C>T | CA10577432 | MVK | c.-92+981C>T (n.-92+981C>T) c.32C>T (p.Pro11Leu) n.32C>T c.18C>T c.25C>T n.277C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109574855G>A | CA6779130 | MVK | c.-92+982G>A (n.-92+982G>A) c.33G>A (p.Pro11=) n.33G>A c.19G>A c.26G>A n.278G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109574855G>C | CA481712966 | MVK | c.-92+982G>C (n.-92+982G>C) c.33G>C (p.Pro11=) n.33G>C c.19G>C c.26G>C n.278G>C | |
| 12 | g.109574855G= | CA2062460156 | MVK | c.-92+982G= (n.-92+982G=) c.33G= (p.Pro11=) n.33G= c.19G= c.26G= n.278G= | |
| 12 | g.109574855G>T | CA481712967 | MVK | c.-92+982G>T (n.-92+982G>T) c.33G>T (p.Pro11=) n.33G>T c.19G>T c.26G>T n.278G>T | gnomAD v4 |
| 12 | g.109574856G>A | CA386642733 | MVK | c.-92+983G>A (n.-92+983G>A) c.34G>A (p.Gly12Arg) n.34G>A c.20G>A c.27G>A n.279G>A | gnomAD v4 |
| 12 | g.109574856G>C | CA386642735 | MVK | c.-92+983G>C (n.-92+983G>C) c.34G>C (p.Gly12Arg) n.34G>C c.20G>C c.27G>C n.279G>C | |
| 12 | g.109574856G>T | CA386642738 | MVK | c.-92+983G>T (n.-92+983G>T) c.34G>T (p.Gly12Trp) n.34G>T c.20G>T c.27G>T n.279G>T | |
| 12 | g.109574857G>A | CA386642742 | MVK | c.-92+984G>A (n.-92+984G>A) c.35G>A (p.Gly12Glu) n.35G>A c.21G>A c.28G>A n.280G>A | |
| 12 | g.109574857G>C | CA386642744 | MVK | c.-92+984G>C (n.-92+984G>C) c.35G>C (p.Gly12Ala) n.35G>C c.21G>C c.28G>C n.280G>C | |
| 12 | g.109574857G= | CA2062460163 | MVK | c.-92+984G= (n.-92+984G=) c.35G= (p.Gly12=) n.35G= c.21G= c.28G= n.280G= | |
| 12 | g.109574857G>T | CA386642745 | MVK | c.-92+984G>T (n.-92+984G>T) c.35G>T (p.Gly12Val) n.35G>T c.21G>T c.28G>T n.280G>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109574858G>A | CA481712970 | MVK | c.-92+985G>A (n.-92+985G>A) c.36G>A (p.Gly12=) n.36G>A c.22G>A c.29G>A n.281G>A | |
| 12 | g.109574858G>C | CA481712969 | MVK | c.-92+985G>C (n.-92+985G>C) c.36G>C (p.Gly12=) n.36G>C c.22G>C c.29G>C n.281G>C | |
| 12 | g.109574858G= | CA2062460166 | MVK | c.-92+985G= (n.-92+985G=) c.36G= (p.Gly12=) n.36G= c.22G= c.29G= n.281G= | |
| 12 | g.109574858G>T | CA481712968 | MVK | c.-92+985G>T (n.-92+985G>T) c.36G>T (p.Gly12=) n.36G>T c.22G>T c.29G>T n.281G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.109574859A= | CA2062460171 | MVK | c.-92+986A= (n.-92+986A=) c.37A= (p.Lys13=) n.37A= c.23A= c.30A= n.282A= | |
| 12 | g.109574859A>C | CA386642753 | MVK | c.-92+986A>C (n.-92+986A>C) c.37A>C (p.Lys13Gln) n.37A>C c.23A>C c.30A>C n.282A>C | ClinVar dbSNP |