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.47337454_47337476delinsAGACGCGCATCTCGTACACCACG | CA1969339905 | MYBPC3 | c.2517_2539delinsCGTGGTGTACGAGATGCGCGTCT (p.Gly839=) c.*22_*44delinsCGTGGTGTACGAGATGCGCGTCT (n.*22_*44delinsCGTGGTGTACGAGATGCGCGTCT) c.2499_2521delinsCGTGGTGTACGAGATGCGCGTCT (p.Gly833=) c.2436_2458delinsCGTGGTGTACGAGATGCGCGTCT (p.Gly812=) | |
| 11 | g.47337455_47337476del | CA012435 | MYBPC3 | c.2517_2538del (p.Val840ThrfsTer?) c.*22_*43del (n.*22_*43del) c.2499_2520del (p.Val834ThrfsTer?) c.2436_2457del (p.Val813ThrfsTer?) | ClinVar dbSNP |
| 11 | g.47337473_47337475del | CA2613401208 | MYBPC3 | c.2521_2523del (p.Val841del) c.*26_*28del (n.*26_*28del) c.2503_2505del (p.Val835del) c.2440_2442del (p.Val814del) | gnomAD v4 |
| 11 | g.47337473del | CA2695212758 | MYBPC3 | c.2521del (p.Val841CysfsTer?) c.*26del (n.*26del) c.2503del (p.Val835CysfsTer?) c.2440del (p.Val814CysfsTer?) | |
| 11 | g.47337472_47337474delinsTG | CA2573331896 | MYBPC3 | c.2519_2521delinsCA (p.Val840AlafsTer?) c.*24_*26delinsCA (n.*24_*26delinsCA) c.2501_2503delinsCA (p.Val834AlafsTer?) c.2438_2440delinsCA (p.Val813AlafsTer?) | |
| 11 | g.47337473C>A | CA474429315 | MYBPC3 | c.2520G>T (p.Val840=) c.*25G>T (n.*25G>T) c.2502G>T (p.Val834=) c.2439G>T (p.Val813=) | |
| 11 | g.47337473C>G | CA474429316 | MYBPC3 | c.2520G>C (p.Val840=) c.*25G>C (n.*25G>C) c.2502G>C (p.Val834=) c.2439G>C (p.Val813=) | |
| 11 | g.47337473C>T | CA474429317 | MYBPC3 | c.2520G>A (p.Val840=) c.*25G>A (n.*25G>A) c.2502G>A (p.Val834=) c.2439G>A (p.Val813=) | |
| 11 | g.47337474A>C | CA380318201 | MYBPC3 | c.2519T>G (p.Val840Gly) c.*24T>G (n.*24T>G) c.2501T>G (p.Val834Gly) c.2438T>G (p.Val813Gly) | |
| 11 | g.47337474A>G | CA380318202 | MYBPC3 | c.2519T>C (p.Val840Ala) c.*24T>C (n.*24T>C) c.2501T>C (p.Val834Ala) c.2438T>C (p.Val813Ala) | |
| 11 | g.47337474A>T | CA380318200 | MYBPC3 | c.2519T>A (p.Val840Glu) c.*24T>A (n.*24T>A) c.2501T>A (p.Val834Glu) c.2438T>A (p.Val813Glu) | |
| 11 | g.47337474_47337475insTG | CA2613401246 | MYBPC3 | c.2518_2519insCA (p.Val840AlafsTer?) c.*23_*24insCA (n.*23_*24insCA) c.2500_2501insCA (p.Val834AlafsTer?) c.2437_2438insCA (p.Val813AlafsTer?) | gnomAD v4 |
| 11 | g.47337475C>A | CA380318203 | MYBPC3 | c.2518G>T (p.Val840Leu) c.*23G>T (n.*23G>T) c.2500G>T (p.Val834Leu) c.2437G>T (p.Val813Leu) | gnomAD v4 |
| 11 | g.47337475C= | CA1969340023 | MYBPC3 | c.2518G= (p.Val840=) c.*23G= (n.*23G=) c.2500G= (p.Val834=) c.2437G= (p.Val813=) | |
| 11 | g.47337475C>G | CA380318204 | MYBPC3 | c.2518G>C (p.Val840Leu) c.*23G>C (n.*23G>C) c.2500G>C (p.Val834Leu) c.2437G>C (p.Val813Leu) | |
| 11 | g.47337475C>T | CA012456 | MYBPC3 | c.2518G>A (p.Val840Met) c.*23G>A (n.*23G>A) c.2500G>A (p.Val834Met) c.2437G>A (p.Val813Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.47337476G>A | CA012448 | MYBPC3 | c.2517C>T (p.Gly839=) c.*22C>T (n.*22C>T) c.2499C>T (p.Gly833=) c.2436C>T (p.Gly812=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337476G>C | CA474429318 | MYBPC3 | c.2517C>G (p.Gly839=) c.*22C>G (n.*22C>G) c.2499C>G (p.Gly833=) c.2436C>G (p.Gly812=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47337476G= | CA1969340032 | MYBPC3 | c.2517C= (p.Gly839=) c.*22C= (n.*22C=) c.2499C= (p.Gly833=) c.2436C= (p.Gly812=) | |
| 11 | g.47337476G>T | CA474429319 | MYBPC3 | c.2517C>A (p.Gly839=) c.*22C>A (n.*22C>A) c.2499C>A (p.Gly833=) c.2436C>A (p.Gly812=) | ClinVar gnomAD v4 |
| 11 | g.47337477C>A | CA380318205 | MYBPC3 | c.2516G>T (p.Gly839Val) c.*21G>T (n.*21G>T) c.2498G>T (p.Gly833Val) c.2435G>T (p.Gly812Val) | |
| 11 | g.47337477C= | CA1969340039 | MYBPC3 | c.2516G= (p.Gly839=) c.*21G= (n.*21G=) c.2498G= (p.Gly833=) c.2435G= (p.Gly812=) | |
| 11 | g.47337477C>G | CA380318206 | MYBPC3 | c.2516G>C (p.Gly839Ala) c.*21G>C (n.*21G>C) c.2498G>C (p.Gly833Ala) c.2435G>C (p.Gly812Ala) | |
| 11 | g.47337477C>T | CA380318207 | MYBPC3 | c.2516G>A (p.Gly839Asp) c.*21G>A (n.*21G>A) c.2498G>A (p.Gly833Asp) c.2435G>A (p.Gly812Asp) | dbSNP gnomAD v4 |
| 11 | g.47337478_47337512del | CA2573051151 | MYBPC3 | c.2482_2516del (p.Glu828ArgfsTer?) c.2414_*21del c.2464_2498del (p.Glu822ArgfsTer?) c.2401_2435del (p.Glu801ArgfsTer?) | |
| 11 | g.47337478C>A | CA380318209 | MYBPC3 | c.2515G>T (p.Gly839Cys) c.*20G>T (n.*20G>T) c.2497G>T (p.Gly833Cys) c.2434G>T (p.Gly812Cys) | |
| 11 | g.47337478C= | CA1969340042 | MYBPC3 | c.2515G= (p.Gly839=) c.*20G= (n.*20G=) c.2497G= (p.Gly833=) c.2434G= (p.Gly812=) | |
| 11 | g.47337478C>G | CA380318208 | MYBPC3 | c.2515G>C (p.Gly839Arg) c.*20G>C (n.*20G>C) c.2497G>C (p.Gly833Arg) c.2434G>C (p.Gly812Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337478C>T | CA050296 | MYBPC3 | c.2515G>A (p.Gly839Ser) c.*20G>A (n.*20G>A) c.2497G>A (p.Gly833Ser) c.2434G>A (p.Gly812Ser) | ClinVar gnomAD v4 |
| 11 | g.47337479C>A | CA380318210 | MYBPC3 | c.2514G>T (p.Glu838Asp) c.*19G>T (n.*19G>T) c.2496G>T (p.Glu832Asp) c.2433G>T (p.Glu811Asp) | |
| 11 | g.47337479C>G | CA380318211 | MYBPC3 | c.2514G>C (p.Glu838Asp) c.*19G>C (n.*19G>C) c.2496G>C (p.Glu832Asp) c.2433G>C (p.Glu811Asp) | gnomAD v4 |
| 11 | g.47337479C>T | CA474429320 | MYBPC3 | c.2514G>A (p.Glu838=) c.*19G>A (n.*19G>A) c.2496G>A (p.Glu832=) c.2433G>A (p.Glu811=) | |
| 11 | g.47337479_47337483delinsCTCGA | CA1969340045 | MYBPC3 | c.2510_2514delinsTCGAG (p.Ile837=) c.*15_*19delinsTCGAG (n.*15_*19delinsTCGAG) c.2492_2496delinsTCGAG (p.Ile831=) c.2429_2433delinsTCGAG (p.Ile810=) | |
| 11 | g.47337480T>A | CA380318212 | MYBPC3 | c.2513A>T (p.Glu838Val) c.*18A>T (n.*18A>T) c.2495A>T (p.Glu832Val) c.2432A>T (p.Glu811Val) | |
| 11 | g.47337480T>C | CA380318213 | MYBPC3 | c.2513A>G (p.Glu838Gly) c.*18A>G (n.*18A>G) c.2495A>G (p.Glu832Gly) c.2432A>G (p.Glu811Gly) | |
| 11 | g.47337480T>G | CA380318214 | MYBPC3 | c.2513A>C (p.Glu838Ala) c.*18A>C (n.*18A>C) c.2495A>C (p.Glu832Ala) c.2432A>C (p.Glu811Ala) | |
| 11 | g.47337480T= | CA1969340050 | MYBPC3 | c.2513A= (p.Glu838=) c.*18A= (n.*18A=) c.2495A= (p.Glu832=) c.2432A= (p.Glu811=) | |
| 11 | g.47337482_47337485del | CA916081640 | MYBPC3 | c.2510_2513del (p.Ile837ArgfsTer?) c.*15_*18del (n.*15_*18del) c.2492_2495del (p.Ile831ArgfsTer?) c.2429_2432del (p.Ile810ArgfsTer?) | ClinVar dbSNP |
| 11 | g.47337481C>A | CA380318215 | MYBPC3 | c.2512G>T (p.Glu838Ter) c.*17G>T (n.*17G>T) c.2494G>T (p.Glu832Ter) c.2431G>T (p.Glu811Ter) | ClinVar dbSNP |
| 11 | g.47337481C= | CA1969340066 | MYBPC3 | c.2512G= (p.Glu838=) c.*17G= (n.*17G=) c.2494G= (p.Glu832=) c.2431G= (p.Glu811=) | |
| 11 | g.47337481C>G | CA012426 | MYBPC3 | c.2512G>C (p.Glu838Gln) c.*17G>C (n.*17G>C) c.2494G>C (p.Glu832Gln) c.2431G>C (p.Glu811Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337481C>T | CA012421 | MYBPC3 | c.2512G>A (p.Glu838Lys) c.*17G>A (n.*17G>A) c.2494G>A (p.Glu832Lys) c.2431G>A (p.Glu811Lys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337481dup | CA676994848 | MYBPC3 | c.2512dup (p.Glu838GlyfsTer?) c.*17dup (n.*17dup) c.2494dup (p.Glu832GlyfsTer?) c.2431dup (p.Glu811GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337481_47337482delinsCG | CA1969340061 | MYBPC3 | c.2511_2512delinsCG (p.Ile837=) c.*16_*17delinsCG (n.*16_*17delinsCG) c.2493_2494delinsCG (p.Ile831=) c.2430_2431delinsCG (p.Ile810=) | |
| 11 | g.47337482del | CA012413 | MYBPC3 | c.2511del (p.Ile837MetfsTer?) c.*16del (n.*16del) c.2493del (p.Ile831MetfsTer?) c.2430del (p.Ile810MetfsTer?) | ClinVar dbSNP |
| 11 | g.47337482G>A | CA078774 | MYBPC3 | c.2511C>T (p.Ile837=) c.*16C>T (n.*16C>T) c.2493C>T (p.Ile831=) c.2430C>T (p.Ile810=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337482G>C | CA380318216 | MYBPC3 | c.2511C>G (p.Ile837Met) c.*16C>G (n.*16C>G) c.2493C>G (p.Ile831Met) c.2430C>G (p.Ile810Met) | ClinVar gnomAD v4 |
| 11 | g.47337482G= | CA1969340075 | MYBPC3 | c.2511C= (p.Ile837=) c.*16C= (n.*16C=) c.2493C= (p.Ile831=) c.2430C= (p.Ile810=) | |
| 11 | g.47337482G>T | CA474429321 | MYBPC3 | c.2511C>A (p.Ile837=) c.*16C>A (n.*16C>A) c.2493C>A (p.Ile831=) c.2430C>A (p.Ile810=) | |
| 11 | g.47337483A>C | CA380318217 | MYBPC3 | c.2510T>G (p.Ile837Ser) c.*15T>G (n.*15T>G) c.2492T>G (p.Ile831Ser) c.2429T>G (p.Ile810Ser) |