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 |
|---|---|---|---|---|---|
| 7 | g.120788809del | CA2684641449 | TSPAN12 | c.703del (p.Ile235SerfsTer4) c.682del (n.682del) c.628del (p.Ile210SerfsTer4) | gnomAD v4 |
| 7 | g.120788808T>A | CA369133767 | TSPAN12 | c.702A>T (p.Gln234His) c.681A>T (n.681A>T) c.627A>T (p.Gln209His) | |
| 7 | g.120788808T>C | CA457393710 | TSPAN12 | c.702A>G (p.Gln234=) c.681A>G (n.681A>G) c.627A>G (p.Gln209=) | |
| 7 | g.120788808T>G | CA4453819 | TSPAN12 | c.702A>C (p.Gln234His) c.681A>C (n.681A>C) c.627A>C (p.Gln209His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.120788808T= | CA1738876486 | TSPAN12 | c.702A= (p.Gln234=) c.681A= (n.681A=) c.627A= (p.Gln209=) | |
| 7 | g.120788809T>A | CA369133768 | TSPAN12 | c.701A>T (p.Gln234Leu) c.680A>T (n.680A>T) c.626A>T (p.Gln209Leu) | |
| 7 | g.120788809T>C | CA369133769 | TSPAN12 | c.701A>G (p.Gln234Arg) c.680A>G (n.680A>G) c.626A>G (p.Gln209Arg) | |
| 7 | g.120788809T>G | CA369133770 | TSPAN12 | c.701A>C (p.Gln234Pro) c.680A>C (n.680A>C) c.626A>C (p.Gln209Pro) | |
| 7 | g.120788810G>A | CA369133771 | TSPAN12 | c.700C>T (p.Gln234Ter) c.679C>T (n.679C>T) c.625C>T (p.Gln209Ter) | ClinVar dbSNP |
| 7 | g.120788810G>C | CA369133772 | TSPAN12 | c.700C>G (p.Gln234Glu) c.679C>G (n.679C>G) c.625C>G (p.Gln209Glu) | gnomAD v4 |
| 7 | g.120788810G>T | CA369133773 | TSPAN12 | c.700C>A (p.Gln234Lys) c.679C>A (n.679C>A) c.625C>A (p.Gln209Lys) | ClinVar dbSNP |
| 7 | g.120788811T>A | CA457393711 | TSPAN12 | c.699A>T (p.Thr233=) c.678A>T (n.678A>T) c.624A>T (p.Thr208=) | |
| 7 | g.120788811T>C | CA457393713 | TSPAN12 | c.699A>G (p.Thr233=) c.678A>G (n.678A>G) c.624A>G (p.Thr208=) | gnomAD v4 |
| 7 | g.120788811T>G | CA457393712 | TSPAN12 | c.699A>C (p.Thr233=) c.678A>C (n.678A>C) c.624A>C (p.Thr208=) | |
| 7 | g.120788812G>A | CA369133774 | TSPAN12 | c.698C>T (p.Thr233Ile) c.677C>T (n.677C>T) c.623C>T (p.Thr208Ile) | |
| 7 | g.120788812G>C | CA369133775 | TSPAN12 | c.698C>G (p.Thr233Arg) c.677C>G (n.677C>G) c.623C>G (p.Thr208Arg) | |
| 7 | g.120788812G>T | CA369133776 | TSPAN12 | c.698C>A (p.Thr233Lys) c.677C>A (n.677C>A) c.623C>A (p.Thr208Lys) | |
| 7 | g.120788813T>A | CA369133779 | TSPAN12 | c.697A>T (p.Thr233Ser) c.676A>T (n.676A>T) c.622A>T (p.Thr208Ser) | |
| 7 | g.120788813T>C | CA369133778 | TSPAN12 | c.697A>G (p.Thr233Ala) c.676A>G (n.676A>G) c.622A>G (p.Thr208Ala) | dbSNP |
| 7 | g.120788813T>G | CA369133777 | TSPAN12 | c.697A>C (p.Thr233Pro) c.676A>C (n.676A>C) c.622A>C (p.Thr208Pro) | |
| 7 | g.120788813T= | CA1738876489 | TSPAN12 | c.697A= (p.Thr233=) c.676A= (n.676A=) c.622A= (p.Thr208=) | |
| 7 | g.120788814C>A | CA457393714 | TSPAN12 | c.696G>T (p.Val232=) c.675G>T (n.675G>T) c.621G>T (p.Val207=) | |
| 7 | g.120788814C>G | CA457393715 | TSPAN12 | c.696G>C (p.Val232=) c.675G>C (n.675G>C) c.621G>C (p.Val207=) | |
| 7 | g.120788814C>T | CA457393716 | TSPAN12 | c.696G>A (p.Val232=) c.675G>A (n.675G>A) c.621G>A (p.Val207=) | gnomAD v4 |
| 7 | g.120788815del | CA2695208541 | TSPAN12 | c.695del (p.Val232GlyfsTer7) c.674del (n.674del) c.620del (p.Val207GlyfsTer7) | |
| 7 | g.120788815A= | CA1738876495 | TSPAN12 | c.695T= (p.Val232=) c.674T= (n.674T=) c.620T= (p.Val207=) | |
| 7 | g.120788815A>C | CA369133780 | TSPAN12 | c.695T>G (p.Val232Gly) c.674T>G (n.674T>G) c.620T>G (p.Val207Gly) | |
| 7 | g.120788815A>G | CA4453820 | TSPAN12 | c.695T>C (p.Val232Ala) c.674T>C (n.674T>C) c.620T>C (p.Val207Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.120788815A>T | CA369133781 | TSPAN12 | c.695T>A (p.Val232Glu) c.674T>A (n.674T>A) c.620T>A (p.Val207Glu) | |
| 7 | g.120788816C>A | CA369133782 | TSPAN12 | c.694G>T (p.Val232Leu) c.673G>T (n.673G>T) c.619G>T (p.Val207Leu) | gnomAD v4 |
| 7 | g.120788816C= | CA1738876501 | TSPAN12 | c.694G= (p.Val232=) c.673G= (n.673G=) c.619G= (p.Val207=) | |
| 7 | g.120788816C>G | CA369133784 | TSPAN12 | c.694G>C (p.Val232Leu) c.673G>C (n.673G>C) c.619G>C (p.Val207Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.120788816C>T | CA369133783 | TSPAN12 | c.694G>A (p.Val232Met) c.673G>A (n.673G>A) c.619G>A (p.Val207Met) | |
| 7 | g.120788817C>A | CA457393717 | TSPAN12 | c.693G>T (p.Gly231=) c.672G>T (n.672G>T) c.618G>T (p.Gly206=) | |
| 7 | g.120788817C= | CA1738876503 | TSPAN12 | c.693G= (p.Gly231=) c.672G= (n.672G=) c.618G= (p.Gly206=) | |
| 7 | g.120788817C>G | CA457393718 | TSPAN12 | c.693G>C (p.Gly231=) c.672G>C (n.672G>C) c.618G>C (p.Gly206=) | dbSNP |
| 7 | g.120788817C>T | CA457393719 | TSPAN12 | c.693G>A (p.Gly231=) c.672G>A (n.672G>A) c.618G>A (p.Gly206=) | gnomAD v4 |
| 7 | g.120788818C>A | CA369133785 | TSPAN12 | c.692G>T (p.Gly231Val) c.671G>T (n.671G>T) c.617G>T (p.Gly206Val) | COSMIC |
| 7 | g.120788818C>G | CA369133786 | TSPAN12 | c.692G>C (p.Gly231Ala) c.671G>C (n.671G>C) c.617G>C (p.Gly206Ala) | |
| 7 | g.120788818C>T | CA369133787 | TSPAN12 | c.692G>A (p.Gly231Glu) c.671G>A (n.671G>A) c.617G>A (p.Gly206Glu) | |
| 7 | g.120788819C>A | CA369133788 | TSPAN12 | c.691G>T (p.Gly231Trp) c.670G>T (n.670G>T) c.616G>T (p.Gly206Trp) | dbSNP |
| 7 | g.120788819C= | CA1738876508 | TSPAN12 | c.691G= (p.Gly231=) c.670G= (n.670G=) c.616G= (p.Gly206=) | |
| 7 | g.120788819C>G | CA369133789 | TSPAN12 | c.691G>C (p.Gly231Arg) c.670G>C (n.670G>C) c.616G>C (p.Gly206Arg) | |
| 7 | g.120788819C>T | CA369133790 | TSPAN12 | c.691G>A (p.Gly231Arg) c.670G>A (n.670G>A) c.616G>A (p.Gly206Arg) | |
| 7 | g.120788820A= | CA1738876515 | TSPAN12 | c.690T= (p.Ile230=) c.669T= (n.669T=) c.615T= (p.Ile205=) | |
| 7 | g.120788820A>C | CA369133791 | TSPAN12 | c.690T>G (p.Ile230Met) c.669T>G (n.669T>G) c.615T>G (p.Ile205Met) | |
| 7 | g.120788820A>G | CA4453821 | TSPAN12 | c.690T>C (p.Ile230=) c.669T>C (n.669T>C) c.615T>C (p.Ile205=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.120788820A>T | CA457393720 | TSPAN12 | c.690T>A (p.Ile230=) c.669T>A (n.669T>A) c.615T>A (p.Ile205=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.120788821A= | CA1738876523 | TSPAN12 | c.689T= (p.Ile230=) c.668T= (n.668T=) c.614T= (p.Ile205=) | |
| 7 | g.120788821A>C | CA369133792 | TSPAN12 | c.689T>G (p.Ile230Ser) c.668T>G (n.668T>G) c.614T>G (p.Ile205Ser) |