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 |
|---|---|---|---|---|---|
| 19 | g.55151897_55151904delinsGTCTCCCA | CA2343272640 | TNNI3 | c.563_570delinsTGGGAGAC (p.Val188=) c.596_603delinsTGGGAGAC (p.Val199=) n.562_569delinsTGGGAGAC c.488_495delinsTGGGAGAC (p.Val163=) n.391_398delinsTGGGAGAC | |
| 19 | g.55151898_55151904del | CA2343272643 | TNNI3 | c.563_569del (p.Val188AlafsTer9) c.596_602del (p.Val199AlafsTer9) n.562_568del c.488_494del (p.Val163AlafsTer9) n.391_397del | ClinVar dbSNP |
| 19 | g.55151899C>A | CA021939 | TNNI3 | c.568G>T (p.Asp190Tyr) c.601G>T (p.Asp201Tyr) n.567G>T c.493G>T (p.Asp165Tyr) n.396G>T | ClinVar dbSNP |
| 19 | g.55151899C= | CA2343272647 | TNNI3 | c.568G= (p.Asp190=) c.601G= (p.Asp201=) n.567G= c.493G= (p.Asp165=) n.396G= | |
| 19 | g.55151899C>G | CA407439646 | TNNI3 | c.568G>C (p.Asp190His) c.601G>C (p.Asp201His) n.567G>C c.493G>C (p.Asp165His) n.396G>C | |
| 19 | g.55151899C>T | CA407439648 | TNNI3 | c.568G>A (p.Asp190Asn) c.601G>A (p.Asp201Asn) n.567G>A c.493G>A (p.Asp165Asn) n.396G>A | |
| 19 | g.55151900T>A | CA508989353 | TNNI3 | c.567A>T (p.Gly189=) c.600A>T (p.Gly200=) n.566A>T c.492A>T (p.Gly164=) n.395A>T | |
| 19 | g.55151900T>C | CA310144932 | TNNI3 | c.567A>G (p.Gly189=) c.600A>G (p.Gly200=) n.566A>G c.492A>G (p.Gly164=) n.395A>G | ClinVar dbSNP |
| 19 | g.55151900T>G | CA508989354 | TNNI3 | c.567A>C (p.Gly189=) c.600A>C (p.Gly200=) n.566A>C c.492A>C (p.Gly164=) n.395A>C | |
| 19 | g.55151900T= | CA2343272650 | TNNI3 | c.567A= (p.Gly189=) c.600A= (p.Gly200=) n.566A= c.492A= (p.Gly164=) n.395A= | |
| 19 | g.55151901C>A | CA407439651 | TNNI3 | c.566G>T (p.Gly189Val) c.599G>T (p.Gly200Val) n.565G>T c.491G>T (p.Gly164Val) n.394G>T | |
| 19 | g.55151901C= | CA2343272651 | TNNI3 | c.566G= (p.Gly189=) c.599G= (p.Gly200=) n.565G= c.491G= (p.Gly164=) n.394G= | |
| 19 | g.55151901C>G | CA407439652 | TNNI3 | c.566G>C (p.Gly189Ala) c.599G>C (p.Gly200Ala) n.565G>C c.491G>C (p.Gly164Ala) n.394G>C | ClinVar |
| 19 | g.55151901C>T | CA021932 | TNNI3 | c.566G>A (p.Gly189Glu) c.599G>A (p.Gly200Glu) n.565G>A c.491G>A (p.Gly164Glu) n.394G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.55151902C>A | CA407439653 | TNNI3 | c.565G>T (p.Gly189Ter) c.598G>T (p.Gly200Ter) n.564G>T c.490G>T (p.Gly164Ter) n.393G>T | |
| 19 | g.55151902C>G | CA407439654 | TNNI3 | c.565G>C (p.Gly189Arg) c.598G>C (p.Gly200Arg) n.564G>C c.490G>C (p.Gly164Arg) n.393G>C | |
| 19 | g.55151902C>T | CA407439656 | TNNI3 | c.565G>A (p.Gly189Arg) c.598G>A (p.Gly200Arg) n.564G>A c.490G>A (p.Gly164Arg) n.393G>A | gnomAD v4 |
| 19 | g.55151903C>A | CA508989355 | TNNI3 | c.564G>T (p.Val188=) c.597G>T (p.Val199=) n.563G>T c.489G>T (p.Val163=) n.392G>T | COSMIC |
| 19 | g.55151903C= | CA2343272652 | TNNI3 | c.564G= (p.Val188=) c.597G= (p.Val199=) n.563G= c.489G= (p.Val163=) n.392G= | |
| 19 | g.55151903C>G | CA508989356 | TNNI3 | c.564G>C (p.Val188=) c.597G>C (p.Val199=) n.563G>C c.489G>C (p.Val163=) n.392G>C | |
| 19 | g.55151903C>T | CA051861 | TNNI3 | c.564G>A (p.Val188=) c.597G>A (p.Val199=) n.563G>A c.489G>A (p.Val163=) n.392G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.55151904A= | CA2343272653 | TNNI3 | c.563T= (p.Val188=) c.596T= (p.Val199=) n.562T= c.488T= (p.Val163=) n.391T= | |
| 19 | g.55151904A>C | CA407439660 | TNNI3 | c.563T>G (p.Val188Gly) c.596T>G (p.Val199Gly) n.562T>G c.488T>G (p.Val163Gly) n.391T>G | dbSNP |
| 19 | g.55151904A>G | CA407439657 | TNNI3 | c.563T>C (p.Val188Ala) c.596T>C (p.Val199Ala) n.562T>C c.488T>C (p.Val163Ala) n.391T>C | |
| 19 | g.55151904A>T | CA407439658 | TNNI3 | c.563T>A (p.Val188Glu) c.596T>A (p.Val199Glu) n.562T>A c.488T>A (p.Val163Glu) n.391T>A | |
| 19 | g.55151905C>A | CA021928 | TNNI3 | c.562G>T (p.Val188Leu) c.595G>T (p.Val199Leu) n.561G>T c.487G>T (p.Val163Leu) n.390G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.55151905C= | CA2343272654 | TNNI3 | c.562G= (p.Val188=) c.595G= (p.Val199=) n.561G= c.487G= (p.Val163=) n.390G= | |
| 19 | g.55151905C>G | CA407439663 | TNNI3 | c.562G>C (p.Val188Leu) c.595G>C (p.Val199Leu) n.561G>C c.487G>C (p.Val163Leu) n.390G>C | gnomAD v4 |
| 19 | g.55151905C>T | CA021922 | TNNI3 | c.562G>A (p.Val188Met) c.595G>A (p.Val199Met) n.561G>A c.487G>A (p.Val163Met) n.390G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.55151906C>A | CA051855 | TNNI3 | c.561G>T (p.Glu187Asp) c.594G>T (p.Glu198Asp) n.560G>T c.486G>T (p.Glu162Asp) n.389G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.55151906C= | CA2343272655 | TNNI3 | c.561G= (p.Glu187=) c.594G= (p.Glu198=) n.560G= c.486G= (p.Glu162=) n.389G= | |
| 19 | g.55151906C>G | CA407439665 | TNNI3 | c.561G>C (p.Glu187Asp) c.594G>C (p.Glu198Asp) n.560G>C c.486G>C (p.Glu162Asp) n.389G>C | gnomAD v4 |
| 19 | g.55151906C>T | CA508989357 | TNNI3 | c.561G>A (p.Glu187=) c.594G>A (p.Glu198=) n.560G>A c.486G>A (p.Glu162=) n.389G>A | |
| 19 | g.55151907T>A | CA407439666 | TNNI3 | c.560A>T (p.Glu187Val) c.593A>T (p.Glu198Val) n.559A>T c.485A>T (p.Glu162Val) n.388A>T | |
| 19 | g.55151907T>C | CA407439668 | TNNI3 | c.560A>G (p.Glu187Gly) c.593A>G (p.Glu198Gly) n.559A>G c.485A>G (p.Glu162Gly) n.388A>G | COSMIC |
| 19 | g.55151907T>G | CA407439669 | TNNI3 | c.560A>C (p.Glu187Ala) c.593A>C (p.Glu198Ala) n.559A>C c.485A>C (p.Glu162Ala) n.388A>C | |
| 19 | g.55151907_55151908delinsCT | CA2343272657 | TNNI3 | c.559_560delinsAG (p.Glu187Arg) c.592_593delinsAG (p.Glu198Arg) n.558_559delinsAG c.484_485delinsAG (p.Glu162Arg) n.387_388delinsAG | ClinVar dbSNP |
| 19 | g.55151907_55151908delinsTC | CA2343272656 | TNNI3 | c.559_560delinsGA (p.Glu187=) c.592_593delinsGA (p.Glu198=) n.558_559delinsGA c.484_485delinsGA (p.Glu162=) n.387_388delinsGA | |
| 19 | g.55151908C>A | CA407439670 | TNNI3 | c.559G>T (p.Glu187Ter) c.592G>T (p.Glu198Ter) n.558G>T c.484G>T (p.Glu162Ter) n.387G>T | |
| 19 | g.55151908C= | CA2343272658 | TNNI3 | c.559G= (p.Glu187=) c.592G= (p.Glu198=) n.558G= c.484G= (p.Glu162=) n.387G= | |
| 19 | g.55151908C>G | CA407439671 | TNNI3 | c.559G>C (p.Glu187Gln) c.592G>C (p.Glu198Gln) n.558G>C c.484G>C (p.Glu162Gln) n.387G>C | |
| 19 | g.55151908C>T | CA021916 | TNNI3 | c.559G>A (p.Glu187Lys) c.592G>A (p.Glu198Lys) n.558G>A c.484G>A (p.Glu162Lys) n.387G>A | ClinVar dbSNP |
| 19 | g.55151909C>A | CA508989358 | TNNI3 | c.558G>T (p.Arg186=) c.591G>T (p.Arg197=) n.557G>T c.483G>T (p.Arg161=) n.386G>T | |
| 19 | g.55151909C>G | CA508989359 | TNNI3 | c.558G>C (p.Arg186=) c.591G>C (p.Arg197=) n.557G>C c.483G>C (p.Arg161=) n.386G>C | |
| 19 | g.55151909C>T | CA508989360 | TNNI3 | c.558G>A (p.Arg186=) c.591G>A (p.Arg197=) n.557G>A c.483G>A (p.Arg161=) n.386G>A | COSMIC |
| 19 | g.55151910C>A | CA407439673 | TNNI3 | c.557G>T (p.Arg186Leu) c.590G>T (p.Arg197Leu) n.556G>T c.482G>T (p.Arg161Leu) n.385G>T | |
| 19 | g.55151910C= | CA2343272659 | TNNI3 | c.557G= (p.Arg186=) c.590G= (p.Arg197=) n.556G= c.482G= (p.Arg161=) n.385G= | |
| 19 | g.55151910C>G | CA407439675 | TNNI3 | c.557G>C (p.Arg186Pro) c.590G>C (p.Arg197Pro) n.556G>C c.482G>C (p.Arg161Pro) n.385G>C | |
| 19 | g.55151910C>T | CA021907 | TNNI3 | c.557G>A (p.Arg186Gln) c.590G>A (p.Arg197Gln) n.556G>A c.482G>A (p.Arg161Gln) n.385G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55151911G>A | CA051839 | TNNI3 | c.556C>T (p.Arg186Trp) c.589C>T (p.Arg197Trp) n.555C>T c.481C>T (p.Arg161Trp) n.384C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |