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 |
|---|---|---|---|---|---|
| 3 | g.150941709_150941714delinsAATGAC | CA1410888523 | CLRN1 | c.301_306delinsGTCATT (p.Val101=) c.449_454delinsGTCATT (p.Cys150=) c.293_298delinsGTCATT (n.293_298delinsGTCATT) c.73_78delinsGTCATT (p.Val25=) n.307_312delinsGTCATT c.-36_-31delinsGTCATT (n.-36_-31delinsGTCATT) c.30_35delinsGTCATT c.473_478delinsGTCATT (p.Cys158=) n.743_748delinsGTCATT n.613_618delinsGTCATT n.471_476delinsGTCATT | |
| 3 | g.150941712_150941716del | CA142687 | CLRN1 | c.301_305del (p.Val101SerfsTer27) c.449_453del (p.Cys150PhefsTer10) c.293_297del (n.293_297del) c.73_77del (p.Val25SerfsTer27) n.307_311del c.-36_-32del (n.-36_-32del) c.30_34del c.473_477del (p.Cys158PhefsTer10) n.743_747del n.613_617del n.471_475del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.150941712G>A | CA436265385 | CLRN1 | c.303C>T (p.Val101=) c.451C>T (p.His151Tyr) c.295C>T (n.295C>T) c.75C>T (p.Val25=) n.309C>T c.-34C>T (n.-34C>T) c.32C>T c.475C>T (p.His159Tyr) n.745C>T n.615C>T n.473C>T | |
| 3 | g.150941712G>C | CA436265386 | CLRN1 | c.303C>G (p.Val101=) c.451C>G (p.His151Asp) c.295C>G (n.295C>G) c.75C>G (p.Val25=) n.309C>G c.-34C>G (n.-34C>G) c.32C>G c.475C>G (p.His159Asp) n.745C>G n.615C>G n.473C>G | |
| 3 | g.150941712G= | CA1410888526 | CLRN1 | c.303C= (p.Val101=) c.451C= (p.His151=) c.295C= (n.295C=) c.75C= (p.Val25=) n.309C= c.-34C= (n.-34C=) c.32C= c.475C= (p.His159=) n.745C= n.615C= n.473C= | |
| 3 | g.150941712G>T | CA436265387 | CLRN1 | c.303C>A (p.Val101=) c.451C>A (p.His151Asn) c.295C>A (n.295C>A) c.75C>A (p.Val25=) n.309C>A c.-34C>A (n.-34C>A) c.32C>A c.475C>A (p.His159Asn) n.745C>A n.615C>A n.473C>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.150941713A>C | CA354955959 | CLRN1 | c.302T>G (p.Val101Gly) c.450T>G (p.Cys150Trp) c.294T>G (n.294T>G) c.74T>G (p.Val25Gly) n.308T>G c.-35T>G (n.-35T>G) c.31T>G c.474T>G (p.Cys158Trp) n.744T>G n.614T>G n.472T>G | |
| 3 | g.150941713A>G | CA354955961 | CLRN1 | c.302T>C (p.Val101Ala) c.450T>C (p.Cys150=) c.294T>C (n.294T>C) c.74T>C (p.Val25Ala) n.308T>C c.-35T>C (n.-35T>C) c.31T>C c.474T>C (p.Cys158=) n.744T>C n.614T>C n.472T>C | |
| 3 | g.150941713A>T | CA354955963 | CLRN1 | c.302T>A (p.Val101Asp) c.450T>A (p.Cys150Ter) c.294T>A (n.294T>A) c.74T>A (p.Val25Asp) n.308T>A c.-35T>A (n.-35T>A) c.31T>A c.474T>A (p.Cys158Ter) n.744T>A n.614T>A n.472T>A | |
| 3 | g.150941714C>A | CA354955965 | CLRN1 | c.301G>T (p.Val101Phe) c.449G>T (p.Cys150Phe) c.293G>T (n.293G>T) c.73G>T (p.Val25Phe) n.307G>T c.-36G>T (n.-36G>T) c.30G>T c.473G>T (p.Cys158Phe) n.743G>T n.613G>T n.471G>T | |
| 3 | g.150941714C= | CA1410888527 | CLRN1 | c.301G= (p.Val101=) c.449G= (p.Cys150=) c.293G= (n.293G=) c.73G= (p.Val25=) n.307G= c.-36G= (n.-36G=) c.30G= c.473G= (p.Cys158=) n.743G= n.613G= n.471G= | |
| 3 | g.150941714C>G | CA354955968 | CLRN1 | c.301G>C (p.Val101Leu) c.449G>C (p.Cys150Ser) c.293G>C (n.293G>C) c.73G>C (p.Val25Leu) n.307G>C c.-36G>C (n.-36G>C) c.30G>C c.473G>C (p.Cys158Ser) n.743G>C n.613G>C n.471G>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.150941714C>T | CA354955970 | CLRN1 | c.301G>A (p.Val101Ile) c.449G>A (p.Cys150Tyr) c.293G>A (n.293G>A) c.73G>A (p.Val25Ile) n.307G>A c.-36G>A (n.-36G>A) c.30G>A c.473G>A (p.Cys158Tyr) n.743G>A n.613G>A n.471G>A | |
| 3 | g.150941715A>C | CA354955979 | CLRN1 | c.300T>G (p.Asn100Lys) c.448T>G (p.Cys150Gly) c.292T>G (n.292T>G) c.72T>G (p.Asn24Lys) n.306T>G c.-37T>G (n.-37T>G) c.29T>G c.472T>G (p.Cys158Gly) n.742T>G n.612T>G n.470T>G | |
| 3 | g.150941715A>G | CA436265397 | CLRN1 | c.300T>C (p.Asn100=) c.448T>C (p.Cys150Arg) c.292T>C (n.292T>C) c.72T>C (p.Asn24=) n.306T>C c.-37T>C (n.-37T>C) c.29T>C c.472T>C (p.Cys158Arg) n.742T>C n.612T>C n.470T>C | |
| 3 | g.150941715A>T | CA354955982 | CLRN1 | c.300T>A (p.Asn100Lys) c.448T>A (p.Cys150Ser) c.292T>A (n.292T>A) c.72T>A (p.Asn24Lys) n.306T>A c.-37T>A (n.-37T>A) c.29T>A c.472T>A (p.Cys158Ser) n.742T>A n.612T>A n.470T>A | |
| 3 | g.150941716T>A | CA354955986 | CLRN1 | c.299A>T (p.Asn100Ile) c.447A>T (p.Gln149His) c.291A>T (n.291A>T) c.71A>T (p.Asn24Ile) n.305A>T c.-38A>T (n.-38A>T) c.28A>T c.471A>T (p.Gln157His) n.741A>T n.611A>T n.469A>T | |
| 3 | g.150941716T>C | CA354955991 | CLRN1 | c.299A>G (p.Asn100Ser) c.447A>G (p.Gln149=) c.291A>G (n.291A>G) c.71A>G (p.Asn24Ser) n.305A>G c.-38A>G (n.-38A>G) c.28A>G c.471A>G (p.Gln157=) n.741A>G n.611A>G n.469A>G | |
| 3 | g.150941716T>G | CA354955989 | CLRN1 | c.299A>C (p.Asn100Thr) c.447A>C (p.Gln149His) c.291A>C (n.291A>C) c.71A>C (p.Asn24Thr) n.305A>C c.-38A>C (n.-38A>C) c.28A>C c.471A>C (p.Gln157His) n.741A>C n.611A>C n.469A>C | |
| 3 | g.150941717T>A | CA354955998 | CLRN1 | c.298A>T (p.Asn100Tyr) c.446A>T (p.Gln149Leu) c.290A>T (n.290A>T) c.70A>T (p.Asn24Tyr) n.304A>T c.-39A>T (n.-39A>T) c.27A>T c.470A>T (p.Gln157Leu) n.740A>T n.610A>T n.468A>T | |
| 3 | g.150941717T>C | CA2666091 | CLRN1 | c.298A>G (p.Asn100Asp) c.446A>G (p.Gln149Arg) c.290A>G (n.290A>G) c.70A>G (p.Asn24Asp) n.304A>G c.-39A>G (n.-39A>G) c.27A>G c.470A>G (p.Gln157Arg) n.740A>G n.610A>G n.468A>G | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
| 3 | g.150941717T>G | CA354955999 | CLRN1 | c.298A>C (p.Asn100His) c.446A>C (p.Gln149Pro) c.290A>C (n.290A>C) c.70A>C (p.Asn24His) n.304A>C c.-39A>C (n.-39A>C) c.27A>C c.470A>C (p.Gln157Pro) n.740A>C n.610A>C n.468A>C | |
| 3 | g.150941717T= | CA1410888528 | CLRN1 | c.298A= (p.Asn100=) c.446A= (p.Gln149=) c.290A= (n.290A=) c.70A= (p.Asn24=) n.304A= c.-39A= (n.-39A=) c.27A= c.470A= (p.Gln157=) n.740A= n.610A= n.468A= | |
| 3 | g.150941718G>A | CA436265418 | CLRN1 | c.297C>T (p.Val99=) c.445C>T (p.Gln149Ter) c.289C>T (n.289C>T) c.69C>T (p.Val23=) n.303C>T c.-40C>T (n.-40C>T) c.26C>T c.469C>T (p.Gln157Ter) n.739C>T n.609C>T n.467C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.150941718G>C | CA2666092 | CLRN1 | c.297C>G (p.Val99=) c.445C>G (p.Gln149Glu) c.289C>G (n.289C>G) c.69C>G (p.Val23=) n.303C>G c.-40C>G (n.-40C>G) c.26C>G c.469C>G (p.Gln157Glu) n.739C>G n.609C>G n.467C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.150941718G= | CA1410888529 | CLRN1 | c.297C= (p.Val99=) c.445C= (p.Gln149=) c.289C= (n.289C=) c.69C= (p.Val23=) n.303C= c.-40C= (n.-40C=) c.26C= c.469C= (p.Gln157=) n.739C= n.609C= n.467C= | |
| 3 | g.150941718G>T | CA436265415 | CLRN1 | c.297C>A (p.Val99=) c.445C>A (p.Gln149Lys) c.289C>A (n.289C>A) c.69C>A (p.Val23=) n.303C>A c.-40C>A (n.-40C>A) c.26C>A c.469C>A (p.Gln157Lys) n.739C>A n.609C>A n.467C>A | ClinVar |
| 3 | g.150941719A>C | CA354956002 | CLRN1 | c.296T>G (p.Val99Gly) c.444T>G (p.Arg148=) c.288T>G (n.288T>G) c.68T>G (p.Val23Gly) n.302T>G c.-41T>G (n.-41T>G) c.25T>G c.468T>G (p.Arg156=) n.738T>G n.608T>G n.466T>G | |
| 3 | g.150941719A>G | CA354956000 | CLRN1 | c.296T>C (p.Val99Ala) c.444T>C (p.Arg148=) c.288T>C (n.288T>C) c.68T>C (p.Val23Ala) n.302T>C c.-41T>C (n.-41T>C) c.25T>C c.468T>C (p.Arg156=) n.738T>C n.608T>C n.466T>C | |
| 3 | g.150941719A>T | CA354956003 | CLRN1 | c.296T>A (p.Val99Asp) c.444T>A (p.Arg148=) c.288T>A (n.288T>A) c.68T>A (p.Val23Asp) n.302T>A c.-41T>A (n.-41T>A) c.25T>A c.468T>A (p.Arg156=) n.738T>A n.608T>A n.466T>A | |
| 3 | g.150941720C>A | CA354956005 | CLRN1 | c.295G>T (p.Val99Phe) c.443G>T (p.Arg148Leu) c.287G>T (n.287G>T) c.67G>T (p.Val23Phe) n.301G>T c.-42G>T (n.-42G>T) c.24G>T c.467G>T (p.Arg156Leu) n.737G>T n.607G>T n.465G>T | |
| 3 | g.150941720C= | CA1410888530 | CLRN1 | c.295G= (p.Val99=) c.443G= (p.Arg148=) c.287G= (n.287G=) c.67G= (p.Val23=) n.301G= c.-42G= (n.-42G=) c.24G= c.467G= (p.Arg156=) n.737G= n.607G= n.465G= | |
| 3 | g.150941720C>G | CA354956007 | CLRN1 | c.295G>C (p.Val99Leu) c.443G>C (p.Arg148Pro) c.287G>C (n.287G>C) c.67G>C (p.Val23Leu) n.301G>C c.-42G>C (n.-42G>C) c.24G>C c.467G>C (p.Arg156Pro) n.737G>C n.607G>C n.465G>C | |
| 3 | g.150941720C>T | CA2666093 | CLRN1 | c.295G>A (p.Val99Ile) c.443G>A (p.Arg148His) c.287G>A (n.287G>A) c.67G>A (p.Val23Ile) n.301G>A c.-42G>A (n.-42G>A) c.24G>A c.467G>A (p.Arg156His) n.737G>A n.607G>A n.465G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.150941721G>A | CA2666094 | CLRN1 | c.294C>T (p.His98=) c.442C>T (p.Arg148Cys) c.286C>T (n.286C>T) c.66C>T (p.His22=) n.300C>T c.-43C>T (n.-43C>T) c.23C>T c.466C>T (p.Arg156Cys) n.736C>T n.606C>T n.464C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.150941721G>C | CA354956011 | CLRN1 | c.294C>G (p.His98Gln) c.442C>G (p.Arg148Gly) c.286C>G (n.286C>G) c.66C>G (p.His22Gln) n.300C>G c.-43C>G (n.-43C>G) c.23C>G c.466C>G (p.Arg156Gly) n.736C>G n.606C>G n.464C>G | |
| 3 | g.150941721G= | CA1410888531 | CLRN1 | c.294C= (p.His98=) c.442C= (p.Arg148=) c.286C= (n.286C=) c.66C= (p.His22=) n.300C= c.-43C= (n.-43C=) c.23C= c.466C= (p.Arg156=) n.736C= n.606C= n.464C= | |
| 3 | g.150941721G>T | CA354956012 | CLRN1 | c.294C>A (p.His98Gln) c.442C>A (p.Arg148Ser) c.286C>A (n.286C>A) c.66C>A (p.His22Gln) n.300C>A c.-43C>A (n.-43C>A) c.23C>A c.466C>A (p.Arg156Ser) n.736C>A n.606C>A n.464C>A | ClinVar dbSNP |
| 3 | g.150941721_150941722insAAGACTTCGGCA | CA2758898501 | CLRN1 | c.293_294insTGCCGAAGTCTT (p.His98_Val99insAlaGluValPhe) c.441_442insTGCCGAAGTCTT (p.Pro147_Arg148insCysArgSerLeu) c.285_286insTGCCGAAGTCTT (n.285_286insTGCCGAAGTCTT) c.65_66insTGCCGAAGTCTT (p.His22_Val23insAlaGluValPhe) n.299_300insTGCCGAAGTCTT c.-44_-43insTGCCGAAGTCTT (n.-44_-43insTGCCGAAGTCTT) c.22_23insTGCCGAAGTCTT c.465_466insTGCCGAAGTCTT (p.Pro155_Arg156insCysArgSerLeu) n.735_736insTGCCGAAGTCTT n.605_606insTGCCGAAGTCTT n.463_464insTGCCGAAGTCTT | |
| 3 | g.150941722T>A | CA354956013 | CLRN1 | c.293A>T (p.His98Leu) c.441A>T (p.Pro147=) c.285A>T (n.285A>T) c.65A>T (p.His22Leu) n.299A>T c.-44A>T (n.-44A>T) c.22A>T c.465A>T (p.Pro155=) n.735A>T n.605A>T n.463A>T | |
| 3 | g.150941722T>C | CA354956014 | CLRN1 | c.293A>G (p.His98Arg) c.441A>G (p.Pro147=) c.285A>G (n.285A>G) c.65A>G (p.His22Arg) n.299A>G c.-44A>G (n.-44A>G) c.22A>G c.465A>G (p.Pro155=) n.735A>G n.605A>G n.463A>G | |
| 3 | g.150941722T>G | CA354956015 | CLRN1 | c.293A>C (p.His98Pro) c.441A>C (p.Pro147=) c.285A>C (n.285A>C) c.65A>C (p.His22Pro) n.299A>C c.-44A>C (n.-44A>C) c.22A>C c.465A>C (p.Pro155=) n.735A>C n.605A>C n.463A>C | |
| 3 | g.150941722_150941723insTCGGCATGGTAGTCATCTGGGAAGAGGGGGCGCAGGGCACGGTCTACGAGACGGCAAGTAA | CA2758898511 | CLRN1 | c.292_293insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA (p.His98LeufsTer?) c.440_441insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA (p.Arg148TyrfsTer16) c.284_285insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA (n.284_285insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA) c.64_65insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA (p.His22LeufsTer?) n.298_299insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA c.-45_-44insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA (n.-45_-44insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA) c.21_22insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA c.464_465insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA (p.Arg156TyrfsTer16) n.734_735insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA n.604_605insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA n.462_463insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA | |
| 3 | g.150941723G>A | CA354956016 | CLRN1 | c.292C>T (p.His98Tyr) c.440C>T (p.Pro147Leu) c.284C>T (n.284C>T) c.64C>T (p.His22Tyr) n.298C>T c.-45C>T (n.-45C>T) c.21C>T c.464C>T (p.Pro155Leu) n.734C>T n.604C>T n.462C>T | |
| 3 | g.150941723G>C | CA354956017 | CLRN1 | c.292C>G (p.His98Asp) c.440C>G (p.Pro147Arg) c.284C>G (n.284C>G) c.64C>G (p.His22Asp) n.298C>G c.-45C>G (n.-45C>G) c.21C>G c.464C>G (p.Pro155Arg) n.734C>G n.604C>G n.462C>G | |
| 3 | g.150941723G>T | CA354956018 | CLRN1 | c.292C>A (p.His98Asn) c.440C>A (p.Pro147Gln) c.284C>A (n.284C>A) c.64C>A (p.His22Asn) n.298C>A c.-45C>A (n.-45C>A) c.21C>A c.464C>A (p.Pro155Gln) n.734C>A n.604C>A n.462C>A | |
| 3 | g.150941724del | CA2499216560 | CLRN1 | c.292del (p.His98ThrfsTer14) c.440del (p.Pro147HisfsTer?) c.284del (n.284del) c.64del (p.His22ThrfsTer14) n.298del c.-45del (n.-45del) c.21del c.464del (p.Pro155HisfsTer?) n.734del n.604del n.462del | ClinVar dbSNP |
| 3 | g.150941723_150941724insATAGTCATCGGGGAAGAGGGGGCGCAGAGCACGGTCCACAAGACGGCACGTCAA | CA2758898520 | CLRN1 | c.291_292insTTGACGTGCCGTCTTGTGGACCGTGCTCTGCGCCCCCTCTTCCCCGATGACTAT (p.Ile97_His98insLeuThrCysArgLeuValAspArgAlaLeuArgProLeuPheProAspAspTyr) c.439_440insTTGACGTGCCGTCTTGTGGACCGTGCTCTGCGCCCCCTCTTCCCCGATGACTAT (p.Pro147LeufsTer17) c.283_284insTTGACGTGCCGTCTTGTGGACCGTGCTCTGCGCCCCCTCTTCCCCGATGACTAT (n.283_284insTTGACGTGCCGTCTTGTGGACCGTGCTCTGCGCCCCCTCTTCCCCGATGACTAT) c.63_64insTTGACGTGCCGTCTTGTGGACCGTGCTCTGCGCCCCCTCTTCCCCGATGACTAT (p.Ile21_His22insLeuThrCysArgLeuValAspArgAlaLeuArgProLeuPheProAspAspTyr) n.297_298insTTGACGTGCCGTCTTGTGGACCGTGCTCTGCGCCCCCTCTTCCCCGATGACTAT c.-46_-45insTTGACGTGCCGTCTTGTGGACCGTGCTCTGCGCCCCCTCTTCCCCGATGACTAT (n.-46_-45insTTGACGTGCCGTCTTGTGGACCGTGCTCTGCGCCCCCTCTTCCCCGATGACTAT) c.20_21insTTGACGTGCCGTCTTGTGGACCGTGCTCTGCGCCCCCTCTTCCCCGATGACTAT c.463_464insTTGACGTGCCGTCTTGTGGACCGTGCTCTGCGCCCCCTCTTCCCCGATGACTAT (p.Pro155LeufsTer17) n.733_734insTTGACGTGCCGTCTTGTGGACCGTGCTCTGCGCCCCCTCTTCCCCGATGACTAT n.603_604insTTGACGTGCCGTCTTGTGGACCGTGCTCTGCGCCCCCTCTTCCCCGATGACTAT n.461_462insTTGACGTGCCGTCTTGTGGACCGTGCTCTGCGCCCCCTCTTCCCCGATGACTAT | |
| 3 | g.150941724G>A | CA436265437 | CLRN1 | c.291C>T (p.Ile97=) c.439C>T (p.Pro147Ser) c.283C>T (n.283C>T) c.63C>T (p.Ile21=) n.297C>T c.-46C>T (n.-46C>T) c.20C>T c.463C>T (p.Pro155Ser) n.733C>T n.603C>T n.461C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.150941724G>C | CA354956019 | CLRN1 | c.291C>G (p.Ile97Met) c.439C>G (p.Pro147Ala) c.283C>G (n.283C>G) c.63C>G (p.Ile21Met) n.297C>G c.-46C>G (n.-46C>G) c.20C>G c.463C>G (p.Pro155Ala) n.733C>G n.603C>G n.461C>G | gnomAD v4 |