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 |
|---|---|---|---|---|---|
| 5 | g.173232660A>C | CA362160961 | NKX2-5 | c.884T>G (p.Phe295Cys) c.*837T>G (n.*837T>G) c.*683T>G (n.*683T>G) | |
| 5 | g.173232660A>G | CA362160962 | NKX2-5 | c.884T>C (p.Phe295Ser) c.*837T>C (n.*837T>C) c.*683T>C (n.*683T>C) | |
| 5 | g.173232660A>T | CA362160963 | NKX2-5 | c.884T>A (p.Phe295Tyr) c.*837T>A (n.*837T>A) c.*683T>A (n.*683T>A) | |
| 5 | g.173232661A>C | CA362160967 | NKX2-5 | c.883T>G (p.Phe295Val) c.*836T>G (n.*836T>G) c.*682T>G (n.*682T>G) | |
| 5 | g.173232661A>G | CA362160965 | NKX2-5 | c.883T>C (p.Phe295Leu) c.*836T>C (n.*836T>C) c.*682T>C (n.*682T>C) | |
| 5 | g.173232661A>T | CA362160964 | NKX2-5 | c.883T>A (p.Phe295Ile) c.*836T>A (n.*836T>A) c.*682T>A (n.*682T>A) | |
| 5 | g.173232662G>A | CA447974773 | NKX2-5 | c.882C>T (p.Asn294=) c.*835C>T (n.*835C>T) c.*681C>T (n.*681C>T) | ClinVar dbSNP |
| 5 | g.173232662G>C | CA362160969 | NKX2-5 | c.882C>G (p.Asn294Lys) c.*835C>G (n.*835C>G) c.*681C>G (n.*681C>G) | |
| 5 | g.173232662G= | CA1601615729 | NKX2-5 | c.882C= (p.Asn294=) c.*835C= (n.*835C=) c.*681C= (n.*681C=) | |
| 5 | g.173232662G>T | CA362160970 | NKX2-5 | c.882C>A (p.Asn294Lys) c.*835C>A (n.*835C>A) c.*681C>A (n.*681C>A) | |
| 5 | g.173232663T>A | CA362160971 | NKX2-5 | c.881A>T (p.Asn294Ile) c.*834A>T (n.*834A>T) c.*680A>T (n.*680A>T) | |
| 5 | g.173232663T>C | CA362160973 | NKX2-5 | c.881A>G (p.Asn294Ser) c.*834A>G (n.*834A>G) c.*680A>G (n.*680A>G) | COSMIC |
| 5 | g.173232663T>G | CA362160972 | NKX2-5 | c.881A>C (p.Asn294Thr) c.*834A>C (n.*834A>C) c.*680A>C (n.*680A>C) | |
| 5 | g.173232664T>A | CA362160975 | NKX2-5 | c.880A>T (p.Asn294Tyr) c.*833A>T (n.*833A>T) c.*679A>T (n.*679A>T) | |
| 5 | g.173232664T>C | CA362160977 | NKX2-5 | c.880A>G (p.Asn294Asp) c.*833A>G (n.*833A>G) c.*679A>G (n.*679A>G) | |
| 5 | g.173232664T>G | CA362160979 | NKX2-5 | c.880A>C (p.Asn294His) c.*833A>C (n.*833A>C) c.*679A>C (n.*679A>C) | |
| 5 | g.173232665C>A | CA447974785 | NKX2-5 | c.879G>T (p.Val293=) c.*832G>T (n.*832G>T) c.*678G>T (n.*678G>T) | |
| 5 | g.173232665C>G | CA447974787 | NKX2-5 | c.879G>C (p.Val293=) c.*832G>C (n.*832G>C) c.*678G>C (n.*678G>C) | gnomAD v4 |
| 5 | g.173232665C>T | CA447974788 | NKX2-5 | c.879G>A (p.Val293=) c.*832G>A (n.*832G>A) c.*678G>A (n.*678G>A) | gnomAD v4 |
| 5 | g.173232666A>C | CA362160980 | NKX2-5 | c.878T>G (p.Val293Gly) c.*831T>G (n.*831T>G) c.*677T>G (n.*677T>G) | |
| 5 | g.173232666A>G | CA362160982 | NKX2-5 | c.878T>C (p.Val293Ala) c.*831T>C (n.*831T>C) c.*677T>C (n.*677T>C) | |
| 5 | g.173232666A>T | CA362160984 | NKX2-5 | c.878T>A (p.Val293Glu) c.*831T>A (n.*831T>A) c.*677T>A (n.*677T>A) | |
| 5 | g.173232667C>A | CA3563615 | NKX2-5 | c.877G>T (p.Val293Leu) c.*830G>T (n.*830G>T) c.*676G>T (n.*676G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173232667C= | CA1601615730 | NKX2-5 | c.877G= (p.Val293=) c.*830G= (n.*830G=) c.*676G= (n.*676G=) | |
| 5 | g.173232667C>G | CA362160986 | NKX2-5 | c.877G>C (p.Val293Leu) c.*830G>C (n.*830G>C) c.*676G>C (n.*676G>C) | dbSNP |
| 5 | g.173232667C>T | CA362160988 | NKX2-5 | c.877G>A (p.Val293Met) c.*830G>A (n.*830G>A) c.*676G>A (n.*676G>A) | COSMIC |
| 5 | g.173232668G>A | CA447974801 | NKX2-5 | c.876C>T (p.Phe292=) c.*829C>T (n.*829C>T) c.*675C>T (n.*675C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.173232668G>C | CA132258782 | NKX2-5 | c.876C>G (p.Phe292Leu) c.*829C>G (n.*829C>G) c.*675C>G (n.*675C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173232668G= | CA1601615731 | NKX2-5 | c.876C= (p.Phe292=) c.*829C= (n.*829C=) c.*675C= (n.*675C=) | |
| 5 | g.173232668G>T | CA362160990 | NKX2-5 | c.876C>A (p.Phe292Leu) c.*829C>A (n.*829C>A) c.*675C>A (n.*675C>A) | |
| 5 | g.173232669A>C | CA362160994 | NKX2-5 | c.875T>G (p.Phe292Cys) c.*828T>G (n.*828T>G) c.*674T>G (n.*674T>G) | |
| 5 | g.173232669A>G | CA362160993 | NKX2-5 | c.875T>C (p.Phe292Ser) c.*828T>C (n.*828T>C) c.*674T>C (n.*674T>C) | |
| 5 | g.173232669A>T | CA362160992 | NKX2-5 | c.875T>A (p.Phe292Tyr) c.*828T>A (n.*828T>A) c.*674T>A (n.*674T>A) | |
| 5 | g.173232670A= | CA1601615733 | NKX2-5 | c.874T= (p.Phe292=) c.*827T= (n.*827T=) c.*673T= (n.*673T=) | |
| 5 | g.173232670A>C | CA3563616 | NKX2-5 | c.874T>G (p.Phe292Val) c.*827T>G (n.*827T>G) c.*673T>G (n.*673T>G) | dbSNP ExAC gnomAD v2 |
| 5 | g.173232670A>G | CA362160995 | NKX2-5 | c.874T>C (p.Phe292Leu) c.*827T>C (n.*827T>C) c.*673T>C (n.*673T>C) | |
| 5 | g.173232670A>T | CA362160996 | NKX2-5 | c.874T>A (p.Phe292Ile) c.*827T>A (n.*827T>A) c.*673T>A (n.*673T>A) | |
| 5 | g.173232670_173232673delinsAGTT | CA1601615732 | NKX2-5 | c.871_874delinsAACT (p.Asn291=) c.*824_*827delinsAACT (n.*824_*827delinsAACT) c.*670_*673delinsAACT (n.*670_*673delinsAACT) | |
| 5 | g.173232671G>A | CA447974810 | NKX2-5 | c.873C>T (p.Asn291=) c.*826C>T (n.*826C>T) c.*672C>T (n.*672C>T) | gnomAD v4 |
| 5 | g.173232671G>C | CA362160997 | NKX2-5 | c.873C>G (p.Asn291Lys) c.*826C>G (n.*826C>G) c.*672C>G (n.*672C>G) | |
| 5 | g.173232671G>T | CA362160998 | NKX2-5 | c.873C>A (p.Asn291Lys) c.*826C>A (n.*826C>A) c.*672C>A (n.*672C>A) | |
| 5 | g.173232678_173232680del | CA16611805 | NKX2-5 | c.871_873del (p.Asn291del) c.*824_*826del (n.*824_*826del) c.*670_*672del (n.*670_*672del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173232672T>A | CA362160999 | NKX2-5 | c.872A>T (p.Asn291Ile) c.*825A>T (n.*825A>T) c.*671A>T (n.*671A>T) | |
| 5 | g.173232672T>C | CA362161000 | NKX2-5 | c.872A>G (p.Asn291Ser) c.*825A>G (n.*825A>G) c.*671A>G (n.*671A>G) | dbSNP gnomAD v4 |
| 5 | g.173232672T>G | CA362161001 | NKX2-5 | c.872A>C (p.Asn291Thr) c.*825A>C (n.*825A>C) c.*671A>C (n.*671A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173232672T= | CA1601615734 | NKX2-5 | c.872A= (p.Asn291=) c.*825A= (n.*825A=) c.*671A= (n.*671A=) | |
| 5 | g.173232673T>A | CA362161002 | NKX2-5 | c.871A>T (p.Asn291Tyr) c.*824A>T (n.*824A>T) c.*670A>T (n.*670A>T) | ClinVar dbSNP |
| 5 | g.173232673T>C | CA362161003 | NKX2-5 | c.871A>G (p.Asn291Asp) c.*824A>G (n.*824A>G) c.*670A>G (n.*670A>G) | |
| 5 | g.173232673T>G | CA362161004 | NKX2-5 | c.871A>C (p.Asn291His) c.*824A>C (n.*824A>C) c.*670A>C (n.*670A>C) | dbSNP |
| 5 | g.173232673T= | CA1601615735 | NKX2-5 | c.871A= (p.Asn291=) c.*824A= (n.*824A=) c.*670A= (n.*670A=) |