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 |
|---|---|---|---|---|---|
| 14 | g.24081465_24081484dup | CA2624298569 | NRL | c.473_492dup (p.Arg165CysfsTer3) c.56_75dup (p.Arg26CysfsTer3) c.572_591dup (p.Arg198CysfsTer3) c.257_276dup (p.Arg93CysfsTer3) c.158_177dup (p.Arg60CysfsTer3) c.779_798dup (p.Arg267CysfsTer3) c.464_483dup (p.Arg162CysfsTer3) | gnomAD v4 |
| 14 | g.24081465_24081484del | CA613319080 | NRL | c.473_492del (p.Leu158ProfsTer?) c.56_75del (p.Leu19ProfsTer?) c.572_591del (p.Leu191ProfsTer?) c.257_276del (p.Leu86ProfsTer?) c.158_177del (p.Leu53ProfsTer?) c.779_798del (p.Leu260ProfsTer?) c.464_483del (p.Leu155ProfsTer?) | dbSNP gnomAD v2 |
| 14 | g.24081480_24081498dup | CA7122825 | NRL | c.459_477dup (p.Leu160AlafsTer?) c.42_60dup (p.Leu21AlafsTer?) c.558_576dup (p.Leu193AlafsTer?) c.243_261dup (p.Leu88AlafsTer?) c.144_162dup (p.Leu55AlafsTer?) c.765_783dup (p.Leu262AlafsTer?) c.450_468dup (p.Leu157AlafsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081478G>A | CA485775977 | NRL | c.472C>T (p.Leu158=) c.55C>T (p.Leu19=) c.571C>T (p.Leu191=) c.256C>T (p.Leu86=) c.157C>T (p.Leu53=) c.778C>T (p.Leu260=) c.463C>T (p.Leu155=) | gnomAD v4 |
| 14 | g.24081478G>C | CA389278388 | NRL | c.472C>G (p.Leu158Val) c.55C>G (p.Leu19Val) c.571C>G (p.Leu191Val) c.256C>G (p.Leu86Val) c.157C>G (p.Leu53Val) c.778C>G (p.Leu260Val) c.463C>G (p.Leu155Val) | |
| 14 | g.24081478G>T | CA389278396 | NRL | c.472C>A (p.Leu158Met) c.55C>A (p.Leu19Met) c.571C>A (p.Leu191Met) c.256C>A (p.Leu86Met) c.157C>A (p.Leu53Met) c.778C>A (p.Leu260Met) c.463C>A (p.Leu155Met) | gnomAD v4 |
| 14 | g.24081479C>A | CA485775980 | NRL | c.471G>T (p.Ala157=) c.54G>T (p.Ala18=) c.570G>T (p.Ala190=) c.255G>T (p.Ala85=) c.156G>T (p.Ala52=) c.777G>T (p.Ala259=) c.462G>T (p.Ala154=) | gnomAD v4 |
| 14 | g.24081479C>G | CA485775981 | NRL | c.471G>C (p.Ala157=) c.54G>C (p.Ala18=) c.570G>C (p.Ala190=) c.255G>C (p.Ala85=) c.156G>C (p.Ala52=) c.777G>C (p.Ala259=) c.462G>C (p.Ala154=) | |
| 14 | g.24081479C>T | CA485775979 | NRL | c.471G>A (p.Ala157=) c.54G>A (p.Ala18=) c.570G>A (p.Ala190=) c.255G>A (p.Ala85=) c.156G>A (p.Ala52=) c.777G>A (p.Ala259=) c.462G>A (p.Ala154=) | gnomAD v4 |
| 14 | g.24081480G>A | CA389278409 | NRL | c.470C>T (p.Ala157Val) c.53C>T (p.Ala18Val) c.569C>T (p.Ala190Val) c.254C>T (p.Ala85Val) c.155C>T (p.Ala52Val) c.776C>T (p.Ala259Val) c.461C>T (p.Ala154Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081480G>C | CA257868097 | NRL | c.470C>G (p.Ala157Gly) c.53C>G (p.Ala18Gly) c.569C>G (p.Ala190Gly) c.254C>G (p.Ala85Gly) c.155C>G (p.Ala52Gly) c.776C>G (p.Ala259Gly) c.461C>G (p.Ala154Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081480G= | CA2123777795 | NRL | c.470C= (p.Ala157=) c.53C= (p.Ala18=) c.569C= (p.Ala190=) c.254C= (p.Ala85=) c.155C= (p.Ala52=) c.776C= (p.Ala259=) c.461C= (p.Ala154=) | |
| 14 | g.24081480G>T | CA389278400 | NRL | c.470C>A (p.Ala157Glu) c.53C>A (p.Ala18Glu) c.569C>A (p.Ala190Glu) c.254C>A (p.Ala85Glu) c.155C>A (p.Ala52Glu) c.776C>A (p.Ala259Glu) c.461C>A (p.Ala154Glu) | gnomAD v4 |
| 14 | g.24081481C>A | CA389278412 | NRL | c.469G>T (p.Ala157Ser) c.52G>T (p.Ala18Ser) c.568G>T (p.Ala190Ser) c.253G>T (p.Ala85Ser) c.154G>T (p.Ala52Ser) c.775G>T (p.Ala259Ser) c.460G>T (p.Ala154Ser) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081481C= | CA2123777799 | NRL | c.469G= (p.Ala157=) c.52G= (p.Ala18=) c.568G= (p.Ala190=) c.253G= (p.Ala85=) c.154G= (p.Ala52=) c.775G= (p.Ala259=) c.460G= (p.Ala154=) | |
| 14 | g.24081481C>G | CA389278415 | NRL | c.469G>C (p.Ala157Pro) c.52G>C (p.Ala18Pro) c.568G>C (p.Ala190Pro) c.253G>C (p.Ala85Pro) c.154G>C (p.Ala52Pro) c.775G>C (p.Ala259Pro) c.460G>C (p.Ala154Pro) | |
| 14 | g.24081481C>T | CA389278413 | NRL | c.469G>A (p.Ala157Thr) c.52G>A (p.Ala18Thr) c.568G>A (p.Ala190Thr) c.253G>A (p.Ala85Thr) c.154G>A (p.Ala52Thr) c.775G>A (p.Ala259Thr) c.460G>A (p.Ala154Thr) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081482C>A | CA389278418 | NRL | c.468G>T (p.Glu156Asp) c.51G>T (p.Glu17Asp) c.567G>T (p.Glu189Asp) c.252G>T (p.Glu84Asp) c.153G>T (p.Glu51Asp) c.774G>T (p.Glu258Asp) c.459G>T (p.Glu153Asp) | gnomAD v4 |
| 14 | g.24081482C= | CA2123777802 | NRL | c.468G= (p.Glu156=) c.51G= (p.Glu17=) c.567G= (p.Glu189=) c.252G= (p.Glu84=) c.153G= (p.Glu51=) c.774G= (p.Glu258=) c.459G= (p.Glu153=) | |
| 14 | g.24081482C>G | CA389278421 | NRL | c.468G>C (p.Glu156Asp) c.51G>C (p.Glu17Asp) c.567G>C (p.Glu189Asp) c.252G>C (p.Glu84Asp) c.153G>C (p.Glu51Asp) c.774G>C (p.Glu258Asp) c.459G>C (p.Glu153Asp) | |
| 14 | g.24081482C>T | CA485775987 | NRL | c.468G>A (p.Glu156=) c.51G>A (p.Glu17=) c.567G>A (p.Glu189=) c.252G>A (p.Glu84=) c.153G>A (p.Glu51=) c.774G>A (p.Glu258=) c.459G>A (p.Glu153=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081483T>A | CA389278429 | NRL | c.467A>T (p.Glu156Val) c.50A>T (p.Glu17Val) c.566A>T (p.Glu189Val) c.251A>T (p.Glu84Val) c.152A>T (p.Glu51Val) c.773A>T (p.Glu258Val) c.458A>T (p.Glu153Val) | gnomAD v4 |
| 14 | g.24081483T>C | CA389278431 | NRL | c.467A>G (p.Glu156Gly) c.50A>G (p.Glu17Gly) c.566A>G (p.Glu189Gly) c.251A>G (p.Glu84Gly) c.152A>G (p.Glu51Gly) c.773A>G (p.Glu258Gly) c.458A>G (p.Glu153Gly) | ClinVar gnomAD v4 |
| 14 | g.24081483T>G | CA389278434 | NRL | c.467A>C (p.Glu156Ala) c.50A>C (p.Glu17Ala) c.566A>C (p.Glu189Ala) c.251A>C (p.Glu84Ala) c.152A>C (p.Glu51Ala) c.773A>C (p.Glu258Ala) c.458A>C (p.Glu153Ala) | |
| 14 | g.24081483T= | CA2123777807 | NRL | c.467A= (p.Glu156=) c.50A= (p.Glu17=) c.566A= (p.Glu189=) c.251A= (p.Glu84=) c.152A= (p.Glu51=) c.773A= (p.Glu258=) c.458A= (p.Glu153=) | |
| 14 | g.24081484C>A | CA389278444 | NRL | c.466G>T (p.Glu156Ter) c.49G>T (p.Glu17Ter) c.565G>T (p.Glu189Ter) c.250G>T (p.Glu84Ter) c.151G>T (p.Glu51Ter) c.772G>T (p.Glu258Ter) c.457G>T (p.Glu153Ter) | gnomAD v4 |
| 14 | g.24081484C= | CA2123777812 | NRL | c.466G= (p.Glu156=) c.49G= (p.Glu17=) c.565G= (p.Glu189=) c.250G= (p.Glu84=) c.151G= (p.Glu51=) c.772G= (p.Glu258=) c.457G= (p.Glu153=) | |
| 14 | g.24081484C>G | CA389278455 | NRL | c.466G>C (p.Glu156Gln) c.49G>C (p.Glu17Gln) c.565G>C (p.Glu189Gln) c.250G>C (p.Glu84Gln) c.151G>C (p.Glu51Gln) c.772G>C (p.Glu258Gln) c.457G>C (p.Glu153Gln) | |
| 14 | g.24081484C>T | CA7122828 | NRL | c.466G>A (p.Glu156Lys) c.49G>A (p.Glu17Lys) c.565G>A (p.Glu189Lys) c.250G>A (p.Glu84Lys) c.151G>A (p.Glu51Lys) c.772G>A (p.Glu258Lys) c.457G>A (p.Glu153Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081485_24081503dup | CA658798201 | NRL | c.448_466dup (p.Glu156AlafsTer?) c.31_49dup (p.Glu17AlafsTer?) c.547_565dup (p.Glu189AlafsTer?) c.232_250dup (p.Glu84AlafsTer?) c.133_151dup (p.Glu51AlafsTer?) c.754_772dup (p.Glu258AlafsTer?) c.439_457dup (p.Glu153AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081485G>A | CA485775990 | NRL | c.465C>T (p.Asp155=) c.48C>T (p.Asp16=) c.564C>T (p.Asp188=) c.249C>T (p.Asp83=) c.150C>T (p.Asp50=) c.771C>T (p.Asp257=) c.456C>T (p.Asp152=) | dbSNP gnomAD v4 |
| 14 | g.24081485G>C | CA389278458 | NRL | c.465C>G (p.Asp155Glu) c.48C>G (p.Asp16Glu) c.564C>G (p.Asp188Glu) c.249C>G (p.Asp83Glu) c.150C>G (p.Asp50Glu) c.771C>G (p.Asp257Glu) c.456C>G (p.Asp152Glu) | gnomAD v4 |
| 14 | g.24081485G= | CA2123777821 | NRL | c.465C= (p.Asp155=) c.48C= (p.Asp16=) c.564C= (p.Asp188=) c.249C= (p.Asp83=) c.150C= (p.Asp50=) c.771C= (p.Asp257=) c.456C= (p.Asp152=) | |
| 14 | g.24081485G>T | CA389278459 | NRL | c.465C>A (p.Asp155Glu) c.48C>A (p.Asp16Glu) c.564C>A (p.Asp188Glu) c.249C>A (p.Asp83Glu) c.150C>A (p.Asp50Glu) c.771C>A (p.Asp257Glu) c.456C>A (p.Asp152Glu) | gnomAD v4 |
| 14 | g.24081486T>A | CA389278461 | NRL | c.464A>T (p.Asp155Val) c.47A>T (p.Asp16Val) c.563A>T (p.Asp188Val) c.248A>T (p.Asp83Val) c.149A>T (p.Asp50Val) c.770A>T (p.Asp257Val) c.455A>T (p.Asp152Val) | |
| 14 | g.24081486T>C | CA389278465 | NRL | c.464A>G (p.Asp155Gly) c.47A>G (p.Asp16Gly) c.563A>G (p.Asp188Gly) c.248A>G (p.Asp83Gly) c.149A>G (p.Asp50Gly) c.770A>G (p.Asp257Gly) c.455A>G (p.Asp152Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081486T>G | CA389278467 | NRL | c.464A>C (p.Asp155Ala) c.47A>C (p.Asp16Ala) c.563A>C (p.Asp188Ala) c.248A>C (p.Asp83Ala) c.149A>C (p.Asp50Ala) c.770A>C (p.Asp257Ala) c.455A>C (p.Asp152Ala) | |
| 14 | g.24081486T= | CA2123777825 | NRL | c.464A= (p.Asp155=) c.47A= (p.Asp16=) c.563A= (p.Asp188=) c.248A= (p.Asp83=) c.149A= (p.Asp50=) c.770A= (p.Asp257=) c.455A= (p.Asp152=) | |
| 14 | g.24081487C>A | CA389278475 | NRL | c.463G>T (p.Asp155Tyr) c.46G>T (p.Asp16Tyr) c.562G>T (p.Asp188Tyr) c.247G>T (p.Asp83Tyr) c.148G>T (p.Asp50Tyr) c.769G>T (p.Asp257Tyr) c.454G>T (p.Asp152Tyr) | gnomAD v4 |
| 14 | g.24081487C>G | CA389278470 | NRL | c.463G>C (p.Asp155His) c.46G>C (p.Asp16His) c.562G>C (p.Asp188His) c.247G>C (p.Asp83His) c.148G>C (p.Asp50His) c.769G>C (p.Asp257His) c.454G>C (p.Asp152His) | gnomAD v4 COSMIC |
| 14 | g.24081487C>T | CA389278471 | NRL | c.463G>A (p.Asp155Asn) c.46G>A (p.Asp16Asn) c.562G>A (p.Asp188Asn) c.247G>A (p.Asp83Asn) c.148G>A (p.Asp50Asn) c.769G>A (p.Asp257Asn) c.454G>A (p.Asp152Asn) | gnomAD v4 |
| 14 | g.24081488G>A | CA485775998 | NRL | c.462C>T (p.Arg154=) c.45C>T (p.Arg15=) c.561C>T (p.Arg187=) c.246C>T (p.Arg82=) c.147C>T (p.Arg49=) c.768C>T (p.Arg256=) c.453C>T (p.Arg151=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081488G>C | CA485775999 | NRL | c.462C>G (p.Arg154=) c.45C>G (p.Arg15=) c.561C>G (p.Arg187=) c.246C>G (p.Arg82=) c.147C>G (p.Arg49=) c.768C>G (p.Arg256=) c.453C>G (p.Arg151=) | |
| 14 | g.24081488G= | CA2123777830 | NRL | c.462C= (p.Arg154=) c.45C= (p.Arg15=) c.561C= (p.Arg187=) c.246C= (p.Arg82=) c.147C= (p.Arg49=) c.768C= (p.Arg256=) c.453C= (p.Arg151=) | |
| 14 | g.24081488G>T | CA7122829 | NRL | c.462C>A (p.Arg154=) c.45C>A (p.Arg15=) c.561C>A (p.Arg187=) c.246C>A (p.Arg82=) c.147C>A (p.Arg49=) c.768C>A (p.Arg256=) c.453C>A (p.Arg151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081488_24081509delinsGCGCCCGCAGCCCCGCAGCTGC | CA2123777834 | NRL | c.441_462delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg147=) c.24_45delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg8=) c.540_561delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg180=) c.225_246delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg75=) c.126_147delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg42=) c.747_768delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg249=) c.432_453delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg144=) | |
| 14 | g.24081489C>A | CA7122830 | NRL | c.461G>T (p.Arg154Leu) c.44G>T (p.Arg15Leu) c.560G>T (p.Arg187Leu) c.245G>T (p.Arg82Leu) c.146G>T (p.Arg49Leu) c.767G>T (p.Arg256Leu) c.452G>T (p.Arg151Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081489C= | CA2123777841 | NRL | c.461G= (p.Arg154=) c.44G= (p.Arg15=) c.560G= (p.Arg187=) c.245G= (p.Arg82=) c.146G= (p.Arg49=) c.767G= (p.Arg256=) c.452G= (p.Arg151=) | |
| 14 | g.24081489C>G | CA389278487 | NRL | c.461G>C (p.Arg154Pro) c.44G>C (p.Arg15Pro) c.560G>C (p.Arg187Pro) c.245G>C (p.Arg82Pro) c.146G>C (p.Arg49Pro) c.767G>C (p.Arg256Pro) c.452G>C (p.Arg151Pro) | |
| 14 | g.24081489C>T | CA389278490 | NRL | c.461G>A (p.Arg154His) c.44G>A (p.Arg15His) c.560G>A (p.Arg187His) c.245G>A (p.Arg82His) c.146G>A (p.Arg49His) c.767G>A (p.Arg256His) c.452G>A (p.Arg151His) | ClinVar dbSNP gnomAD v4 |