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.24081457_24081476dup | CA2624298556 | NRL | c.476_495dup (p.Thr166GlyfsTer2) c.59_78dup (p.Thr27GlyfsTer2) c.575_594dup (p.Thr199GlyfsTer2) c.260_279dup (p.Thr94GlyfsTer2) c.161_180dup (p.Thr61GlyfsTer2) c.782_801dup (p.Thr268GlyfsTer2) c.467_486dup (p.Thr163GlyfsTer2) | gnomAD v4 |
| 14 | g.24081457_24081477delinsGGCGCCTCTGCTTCAGCCGCA | CA2123777720 | NRL | c.473_493delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu158=) c.56_76delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu19=) c.572_592delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu191=) c.257_277delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu86=) c.158_178delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu53=) c.779_799delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu260=) c.464_484delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu155=) | |
| 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.24081474C>A | CA389278320 | NRL | c.476G>T (p.Arg159Leu) c.59G>T (p.Arg20Leu) c.575G>T (p.Arg192Leu) c.260G>T (p.Arg87Leu) c.161G>T (p.Arg54Leu) c.782G>T (p.Arg261Leu) c.467G>T (p.Arg156Leu) | |
| 14 | g.24081474C= | CA2123777767 | NRL | c.476G= (p.Arg159=) c.59G= (p.Arg20=) c.575G= (p.Arg192=) c.260G= (p.Arg87=) c.161G= (p.Arg54=) c.782G= (p.Arg261=) c.467G= (p.Arg156=) | |
| 14 | g.24081474C>G | CA389278324 | NRL | c.476G>C (p.Arg159Pro) c.59G>C (p.Arg20Pro) c.575G>C (p.Arg192Pro) c.260G>C (p.Arg87Pro) c.161G>C (p.Arg54Pro) c.782G>C (p.Arg261Pro) c.467G>C (p.Arg156Pro) | |
| 14 | g.24081474C>T | CA389278343 | NRL | c.476G>A (p.Arg159Gln) c.59G>A (p.Arg20Gln) c.575G>A (p.Arg192Gln) c.260G>A (p.Arg87Gln) c.161G>A (p.Arg54Gln) c.782G>A (p.Arg261Gln) c.467G>A (p.Arg156Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081475G>A | CA389278349 | NRL | c.475C>T (p.Arg159Trp) c.58C>T (p.Arg20Trp) c.574C>T (p.Arg192Trp) c.259C>T (p.Arg87Trp) c.160C>T (p.Arg54Trp) c.781C>T (p.Arg261Trp) c.466C>T (p.Arg156Trp) | dbSNP gnomAD v4 |
| 14 | g.24081475G>C | CA389278352 | NRL | c.475C>G (p.Arg159Gly) c.58C>G (p.Arg20Gly) c.574C>G (p.Arg192Gly) c.259C>G (p.Arg87Gly) c.160C>G (p.Arg54Gly) c.781C>G (p.Arg261Gly) c.466C>G (p.Arg156Gly) | |
| 14 | g.24081475G= | CA2123777775 | NRL | c.475C= (p.Arg159=) c.58C= (p.Arg20=) c.574C= (p.Arg192=) c.259C= (p.Arg87=) c.160C= (p.Arg54=) c.781C= (p.Arg261=) c.466C= (p.Arg156=) | |
| 14 | g.24081475G>T | CA485775974 | NRL | c.475C>A (p.Arg159=) c.58C>A (p.Arg20=) c.574C>A (p.Arg192=) c.259C>A (p.Arg87=) c.160C>A (p.Arg54=) c.781C>A (p.Arg261=) c.466C>A (p.Arg156=) | gnomAD v4 |
| 14 | g.24081475_24081476insT | CA7122826 | NRL | c.474_475insA (p.Arg159ThrfsTer?) c.57_58insA (p.Arg20ThrfsTer?) c.573_574insA (p.Arg192ThrfsTer?) c.258_259insA (p.Arg87ThrfsTer?) c.159_160insA (p.Arg54ThrfsTer?) c.780_781insA (p.Arg261ThrfsTer?) c.465_466insA (p.Arg156ThrfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081475_24081476insGCGCCTCTGCTTCAGCCT | CA2624298635 | NRL | c.474_475insAGGCTGAAGCAGAGGCGC (p.Leu158_Arg159insArgLeuLysGlnArgArg) c.57_58insAGGCTGAAGCAGAGGCGC (p.Leu19_Arg20insArgLeuLysGlnArgArg) c.573_574insAGGCTGAAGCAGAGGCGC (p.Leu191_Arg192insArgLeuLysGlnArgArg) c.258_259insAGGCTGAAGCAGAGGCGC (p.Leu86_Arg87insArgLeuLysGlnArgArg) c.159_160insAGGCTGAAGCAGAGGCGC (p.Leu53_Arg54insArgLeuLysGlnArgArg) c.780_781insAGGCTGAAGCAGAGGCGC (p.Leu260_Arg261insArgLeuLysGlnArgArg) c.465_466insAGGCTGAAGCAGAGGCGC (p.Leu155_Arg156insArgLeuLysGlnArgArg) | gnomAD v4 |
| 14 | g.24081476C>A | CA485775975 | NRL | c.474G>T (p.Leu158=) c.57G>T (p.Leu19=) c.573G>T (p.Leu191=) c.258G>T (p.Leu86=) c.159G>T (p.Leu53=) c.780G>T (p.Leu260=) c.465G>T (p.Leu155=) | gnomAD v4 |
| 14 | g.24081476C= | CA2123777781 | NRL | c.474G= (p.Leu158=) c.57G= (p.Leu19=) c.573G= (p.Leu191=) c.258G= (p.Leu86=) c.159G= (p.Leu53=) c.780G= (p.Leu260=) c.465G= (p.Leu155=) | |
| 14 | g.24081476C>G | CA485775976 | NRL | c.474G>C (p.Leu158=) c.57G>C (p.Leu19=) c.573G>C (p.Leu191=) c.258G>C (p.Leu86=) c.159G>C (p.Leu53=) c.780G>C (p.Leu260=) c.465G>C (p.Leu155=) | |
| 14 | g.24081476C>T | CA7122827 | NRL | c.474G>A (p.Leu158=) c.57G>A (p.Leu19=) c.573G>A (p.Leu191=) c.258G>A (p.Leu86=) c.159G>A (p.Leu53=) c.780G>A (p.Leu260=) c.465G>A (p.Leu155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081477A= | CA2123777787 | NRL | c.473T= (p.Leu158=) c.56T= (p.Leu19=) c.572T= (p.Leu191=) c.257T= (p.Leu86=) c.158T= (p.Leu53=) c.779T= (p.Leu260=) c.464T= (p.Leu155=) | |
| 14 | g.24081477A>C | CA389278382 | NRL | c.473T>G (p.Leu158Arg) c.56T>G (p.Leu19Arg) c.572T>G (p.Leu191Arg) c.257T>G (p.Leu86Arg) c.158T>G (p.Leu53Arg) c.779T>G (p.Leu260Arg) c.464T>G (p.Leu155Arg) | |
| 14 | g.24081477A>G | CA389278383 | NRL | c.473T>C (p.Leu158Pro) c.56T>C (p.Leu19Pro) c.572T>C (p.Leu191Pro) c.257T>C (p.Leu86Pro) c.158T>C (p.Leu53Pro) c.779T>C (p.Leu260Pro) c.464T>C (p.Leu155Pro) | dbSNP gnomAD v4 |
| 14 | g.24081477A>T | CA389278385 | NRL | c.473T>A (p.Leu158Gln) c.56T>A (p.Leu19Gln) c.572T>A (p.Leu191Gln) c.257T>A (p.Leu86Gln) c.158T>A (p.Leu53Gln) c.779T>A (p.Leu260Gln) c.464T>A (p.Leu155Gln) | |
| 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 |