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.67490872_67490877del | CA2574896311 | AIP | c.1179_1184del c.683_688del (p.Val228_Leu229del) n.1714_1719del c.469-125_469-120del (n.469-125_469-120del) c.503_508del (p.Val168_Leu169del) c.872_877del (p.Val291_Leu292del) c.*12_*17del (n.*12_*17del) c.695_700del (p.Val232_Leu233del) c.692_697del (p.Val231_Leu232del) | |
| 11 | g.67490874del | CA2697548772 | AIP | c.1181del c.685del (p.Leu229TrpfsTer11) n.1716del c.469-123del (n.469-123del) c.505del (p.Leu169TrpfsTer11) c.874del (p.Leu292TrpfsTer11) c.*14del (n.*14del) c.697del (p.Leu233TrpfsTer11) c.694del (p.Leu232TrpfsTer11) c.685del (p.Leu229TrpfsTer?) | ClinVar |
| 11 | g.67490874C>A | CA381555046 | AIP | c.1181C>A c.685C>A (p.Leu229Met) n.1716C>A c.469-123C>A (n.469-123C>A) c.505C>A (p.Leu169Met) c.874C>A (p.Leu292Met) c.*14C>A (n.*14C>A) c.697C>A (p.Leu233Met) c.694C>A (p.Leu232Met) | |
| 11 | g.67490874C= | CA1980172676 | AIP | c.1181C= c.685C= (p.Leu229=) n.1716C= c.469-123C= (n.469-123C=) c.505C= (p.Leu169=) c.874C= (p.Leu292=) c.*14C= (n.*14C=) c.697C= (p.Leu233=) c.694C= (p.Leu232=) | |
| 11 | g.67490874C>G | CA6140994 | AIP | c.1181C>G c.685C>G (p.Leu229Val) n.1716C>G c.469-123C>G (n.469-123C>G) c.505C>G (p.Leu169Val) c.874C>G (p.Leu292Val) c.*14C>G (n.*14C>G) c.697C>G (p.Leu233Val) c.694C>G (p.Leu232Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490874C>T | CA475509561 | AIP | c.1181C>T c.685C>T (p.Leu229=) n.1716C>T c.469-123C>T (n.469-123C>T) c.505C>T (p.Leu169=) c.874C>T (p.Leu292=) c.*14C>T (n.*14C>T) c.697C>T (p.Leu233=) c.694C>T (p.Leu232=) | |
| 11 | g.67490875T>A | CA381555054 | AIP | c.1182T>A c.686T>A (p.Leu229Gln) n.1717T>A c.469-122T>A (n.469-122T>A) c.506T>A (p.Leu169Gln) c.875T>A (p.Leu292Gln) c.*15T>A (n.*15T>A) c.698T>A (p.Leu233Gln) c.695T>A (p.Leu232Gln) | |
| 11 | g.67490875T>C | CA381555056 | AIP | c.1182T>C c.686T>C (p.Leu229Pro) n.1717T>C c.469-122T>C (n.469-122T>C) c.506T>C (p.Leu169Pro) c.875T>C (p.Leu292Pro) c.*15T>C (n.*15T>C) c.698T>C (p.Leu233Pro) c.695T>C (p.Leu232Pro) | |
| 11 | g.67490875T>G | CA381555060 | AIP | c.1182T>G c.686T>G (p.Leu229Arg) n.1717T>G c.469-122T>G (n.469-122T>G) c.506T>G (p.Leu169Arg) c.875T>G (p.Leu292Arg) c.*15T>G (n.*15T>G) c.698T>G (p.Leu233Arg) c.695T>G (p.Leu232Arg) | |
| 11 | g.67490876G>A | CA475509562 | AIP | c.1183G>A c.687G>A (p.Leu229=) n.1718G>A c.469-121G>A (n.469-121G>A) c.507G>A (p.Leu169=) c.876G>A (p.Leu292=) c.*16G>A (n.*16G>A) c.699G>A (p.Leu233=) c.696G>A (p.Leu232=) | |
| 11 | g.67490876G>C | CA475509563 | AIP | c.1183G>C c.687G>C (p.Leu229=) n.1718G>C c.469-121G>C (n.469-121G>C) c.507G>C (p.Leu169=) c.876G>C (p.Leu292=) c.*16G>C (n.*16G>C) c.699G>C (p.Leu233=) c.696G>C (p.Leu232=) | |
| 11 | g.67490876G>T | CA475509565 | AIP | c.1183G>T c.687G>T (p.Leu229=) n.1718G>T c.469-121G>T (n.469-121G>T) c.507G>T (p.Leu169=) c.876G>T (p.Leu292=) c.*16G>T (n.*16G>T) c.699G>T (p.Leu233=) c.696G>T (p.Leu232=) | |
| 11 | g.67490877G>A | CA381555070 | AIP | c.1184G>A c.688G>A (p.Glu230Lys) n.1719G>A c.469-120G>A (n.469-120G>A) c.508G>A (p.Glu170Lys) c.877G>A (p.Glu293Lys) c.*17G>A (n.*17G>A) c.700G>A (p.Glu234Lys) c.697G>A (p.Glu233Lys) | |
| 11 | g.67490877G>C | CA381555068 | AIP | c.1184G>C c.688G>C (p.Glu230Gln) n.1719G>C c.469-120G>C (n.469-120G>C) c.508G>C (p.Glu170Gln) c.877G>C (p.Glu293Gln) c.*17G>C (n.*17G>C) c.700G>C (p.Glu234Gln) c.697G>C (p.Glu233Gln) | |
| 11 | g.67490877G>T | CA381555065 | AIP | c.1184G>T c.688G>T (p.Glu230Ter) n.1719G>T c.469-120G>T (n.469-120G>T) c.508G>T (p.Glu170Ter) c.877G>T (p.Glu293Ter) c.*17G>T (n.*17G>T) c.700G>T (p.Glu234Ter) c.697G>T (p.Glu233Ter) | |
| 11 | g.67490878A>C | CA381555079 | AIP | c.1185A>C c.689A>C (p.Glu230Ala) n.1720A>C c.469-119A>C (n.469-119A>C) c.509A>C (p.Glu170Ala) c.878A>C (p.Glu293Ala) c.*18A>C (n.*18A>C) c.701A>C (p.Glu234Ala) c.698A>C (p.Glu233Ala) | |
| 11 | g.67490878A>G | CA381555082 | AIP | c.1185A>G c.689A>G (p.Glu230Gly) n.1720A>G c.469-119A>G (n.469-119A>G) c.509A>G (p.Glu170Gly) c.878A>G (p.Glu293Gly) c.*18A>G (n.*18A>G) c.701A>G (p.Glu234Gly) c.698A>G (p.Glu233Gly) | |
| 11 | g.67490878A>T | CA381555087 | AIP | c.1185A>T c.689A>T (p.Glu230Val) n.1720A>T c.469-119A>T (n.469-119A>T) c.509A>T (p.Glu170Val) c.878A>T (p.Glu293Val) c.*18A>T (n.*18A>T) c.701A>T (p.Glu234Val) c.698A>T (p.Glu233Val) | |
| 11 | g.67490878_67490879delinsAG | CA1980172677 | AIP | c.1185_1186delinsAG c.689_690delinsAG (p.Glu230=) n.1720_1721delinsAG c.469-119_469-118delinsAG (n.469-119_469-118delinsAG) c.509_510delinsAG (p.Glu170=) c.878_879delinsAG (p.Glu293=) c.*18_*19delinsAG (n.*18_*19delinsAG) c.701_702delinsAG (p.Glu234=) c.698_699delinsAG (p.Glu233=) | |
| 11 | g.67490878_67490879delinsGT | CA356563 | AIP | c.1185_1186delinsGT c.689_690delinsGT (p.Glu230Gly) n.1720_1721delinsGT c.469-119_469-118delinsGT (n.469-119_469-118delinsGT) c.509_510delinsGT (p.Glu170Gly) c.878_879delinsGT (p.Glu293Gly) c.*18_*19delinsGT (n.*18_*19delinsGT) c.701_702delinsGT (p.Glu234Gly) c.698_699delinsGT (p.Glu233Gly) | ClinVar dbSNP |
| 11 | g.67490878_67490891delinsGT | CA2695214808 | AIP | c.1185_1198delinsGT c.689_702delinsGT (p.Glu230_Ala234delinsGly) n.1720_1733delinsGT c.469-119_469-106delinsGT (n.469-119_469-106delinsGT) c.509_522delinsGT (p.Glu170_Ala174delinsGly) c.878_891delinsGT (p.Glu293_Ala297delinsGly) c.*18_*31delinsGT (n.*18_*31delinsGT) c.701_714delinsGT (p.Glu234_Ala238delinsGly) c.698_711delinsGT (p.Glu233_Ala237delinsGly) | |
| 11 | g.67490879G>A | CA475509571 | AIP | c.1186G>A c.690G>A (p.Glu230=) n.1721G>A c.469-118G>A (n.469-118G>A) c.510G>A (p.Glu170=) c.879G>A (p.Glu293=) c.*19G>A (n.*19G>A) c.702G>A (p.Glu234=) c.699G>A (p.Glu233=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490879G>C | CA381555095 | AIP | c.1186G>C c.690G>C (p.Glu230Asp) n.1721G>C c.469-118G>C (n.469-118G>C) c.510G>C (p.Glu170Asp) c.879G>C (p.Glu293Asp) c.*19G>C (n.*19G>C) c.702G>C (p.Glu234Asp) c.699G>C (p.Glu233Asp) | |
| 11 | g.67490879G= | CA1980172678 | AIP | c.1186G= c.690G= (p.Glu230=) n.1721G= c.469-118G= (n.469-118G=) c.510G= (p.Glu170=) c.879G= (p.Glu293=) c.*19G= (n.*19G=) c.702G= (p.Glu234=) c.699G= (p.Glu233=) | |
| 11 | g.67490879G>T | CA381555100 | AIP | c.1186G>T c.690G>T (p.Glu230Asp) n.1721G>T c.469-118G>T (n.469-118G>T) c.510G>T (p.Glu170Asp) c.879G>T (p.Glu293Asp) c.*19G>T (n.*19G>T) c.702G>T (p.Glu234Asp) c.699G>T (p.Glu233Asp) | ClinVar |
| 11 | g.67490879_67490891delinsGCTGGACCCAGCC | CA1980172679 | AIP | c.1186_1198delinsGCTGGACCCAGCC c.690_702delinsGCTGGACCCAGCC (p.Glu230=) n.1721_1733delinsGCTGGACCCAGCC c.469-118_469-106delinsGCTGGACCCAGCC (n.469-118_469-106delinsGCTGGACCCAGCC) c.510_522delinsGCTGGACCCAGCC (p.Glu170=) c.879_891delinsGCTGGACCCAGCC (p.Glu293=) c.*19_*31delinsGCTGGACCCAGCC (n.*19_*31delinsGCTGGACCCAGCC) c.702_714delinsGCTGGACCCAGCC (p.Glu234=) c.699_711delinsGCTGGACCCAGCC (p.Glu233=) | |
| 11 | g.67490880C>A | CA381555103 | AIP | c.1187C>A c.691C>A (p.Leu231Met) n.1722C>A c.469-117C>A (n.469-117C>A) c.511C>A (p.Leu171Met) c.880C>A (p.Leu294Met) c.*20C>A (n.*20C>A) c.703C>A (p.Leu235Met) c.700C>A (p.Leu234Met) | ClinVar |
| 11 | g.67490880C>G | CA381555108 | AIP | c.1187C>G c.691C>G (p.Leu231Val) n.1722C>G c.469-117C>G (n.469-117C>G) c.511C>G (p.Leu171Val) c.880C>G (p.Leu294Val) c.*20C>G (n.*20C>G) c.703C>G (p.Leu235Val) c.700C>G (p.Leu234Val) | |
| 11 | g.67490880C>T | CA475509574 | AIP | c.1187C>T c.691C>T (p.Leu231=) n.1722C>T c.469-117C>T (n.469-117C>T) c.511C>T (p.Leu171=) c.880C>T (p.Leu294=) c.*20C>T (n.*20C>T) c.703C>T (p.Leu235=) c.700C>T (p.Leu234=) | |
| 11 | g.67490884_67490895del | CA356559 | AIP | c.1191_1202del c.695_706del (p.Asp232_Leu235del) n.1726_1737del c.469-113_469-102del (n.469-113_469-102del) c.515_526del (p.Asp172_Leu175del) c.884_895del (p.Asp295_Leu298del) c.*24_*35del (n.*24_*35del) c.707_718del (p.Asp236_Leu239del) c.704_715del (p.Asp235_Leu238del) | ClinVar dbSNP |
| 11 | g.67490881T>A | CA381555109 | AIP | c.1188T>A c.692T>A (p.Leu231Gln) n.1723T>A c.469-116T>A (n.469-116T>A) c.512T>A (p.Leu171Gln) c.881T>A (p.Leu294Gln) c.*21T>A (n.*21T>A) c.704T>A (p.Leu235Gln) c.701T>A (p.Leu234Gln) | |
| 11 | g.67490881T>C | CA381555110 | AIP | c.1188T>C c.692T>C (p.Leu231Pro) n.1723T>C c.469-116T>C (n.469-116T>C) c.512T>C (p.Leu171Pro) c.881T>C (p.Leu294Pro) c.*21T>C (n.*21T>C) c.704T>C (p.Leu235Pro) c.701T>C (p.Leu234Pro) | |
| 11 | g.67490881T>G | CA381555112 | AIP | c.1188T>G c.692T>G (p.Leu231Arg) n.1723T>G c.469-116T>G (n.469-116T>G) c.512T>G (p.Leu171Arg) c.881T>G (p.Leu294Arg) c.*21T>G (n.*21T>G) c.704T>G (p.Leu235Arg) c.701T>G (p.Leu234Arg) | |
| 11 | g.67490882G>A | CA475509580 | AIP | c.1189G>A c.693G>A (p.Leu231=) n.1724G>A c.469-115G>A (n.469-115G>A) c.513G>A (p.Leu171=) c.882G>A (p.Leu294=) c.*22G>A (n.*22G>A) c.705G>A (p.Leu235=) c.702G>A (p.Leu234=) | |
| 11 | g.67490882G>C | CA475509578 | AIP | c.1189G>C c.693G>C (p.Leu231=) n.1724G>C c.469-115G>C (n.469-115G>C) c.513G>C (p.Leu171=) c.882G>C (p.Leu294=) c.*22G>C (n.*22G>C) c.705G>C (p.Leu235=) c.702G>C (p.Leu234=) | |
| 11 | g.67490882G>T | CA475509579 | AIP | c.1189G>T c.693G>T (p.Leu231=) n.1724G>T c.469-115G>T (n.469-115G>T) c.513G>T (p.Leu171=) c.882G>T (p.Leu294=) c.*22G>T (n.*22G>T) c.705G>T (p.Leu235=) c.702G>T (p.Leu234=) | |
| 11 | g.67490883G>A | CA381555116 | AIP | c.1190G>A c.694G>A (p.Asp232Asn) n.1725G>A c.469-114G>A (n.469-114G>A) c.514G>A (p.Asp172Asn) c.883G>A (p.Asp295Asn) c.*23G>A (n.*23G>A) c.706G>A (p.Asp236Asn) c.703G>A (p.Asp235Asn) | gnomAD v4 |
| 11 | g.67490883G>C | CA381555118 | AIP | c.1190G>C c.694G>C (p.Asp232His) n.1725G>C c.469-114G>C (n.469-114G>C) c.514G>C (p.Asp172His) c.883G>C (p.Asp295His) c.*23G>C (n.*23G>C) c.706G>C (p.Asp236His) c.703G>C (p.Asp235His) | |
| 11 | g.67490883G>T | CA381555124 | AIP | c.1190G>T c.694G>T (p.Asp232Tyr) n.1725G>T c.469-114G>T (n.469-114G>T) c.514G>T (p.Asp172Tyr) c.883G>T (p.Asp295Tyr) c.*23G>T (n.*23G>T) c.706G>T (p.Asp236Tyr) c.703G>T (p.Asp235Tyr) | |
| 11 | g.67490884_67490889del | CA2739270611 | AIP | c.1191_1196del c.695_700del (p.Asp232_Pro233del) n.1726_1731del c.469-113_469-108del (n.469-113_469-108del) c.515_520del (p.Asp172_Pro173del) c.884_889del (p.Asp295_Pro296del) c.*24_*29del (n.*24_*29del) c.707_712del (p.Asp236_Pro237del) c.704_709del (p.Asp235_Pro236del) | ClinVar |
| 11 | g.67490884A= | CA1980172680 | AIP | c.1191A= c.695A= (p.Asp232=) n.1726A= c.469-113A= (n.469-113A=) c.515A= (p.Asp172=) c.884A= (p.Asp295=) c.*24A= (n.*24A=) c.707A= (p.Asp236=) c.704A= (p.Asp235=) | |
| 11 | g.67490884A>C | CA381555128 | AIP | c.1191A>C c.695A>C (p.Asp232Ala) n.1726A>C c.469-113A>C (n.469-113A>C) c.515A>C (p.Asp172Ala) c.884A>C (p.Asp295Ala) c.*24A>C (n.*24A>C) c.707A>C (p.Asp236Ala) c.704A>C (p.Asp235Ala) | |
| 11 | g.67490884A>G | CA381555132 | AIP | c.1191A>G c.695A>G (p.Asp232Gly) n.1726A>G c.469-113A>G (n.469-113A>G) c.515A>G (p.Asp172Gly) c.884A>G (p.Asp295Gly) c.*24A>G (n.*24A>G) c.707A>G (p.Asp236Gly) c.704A>G (p.Asp235Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490884A>T | CA381555134 | AIP | c.1191A>T c.695A>T (p.Asp232Val) n.1726A>T c.469-113A>T (n.469-113A>T) c.515A>T (p.Asp172Val) c.884A>T (p.Asp295Val) c.*24A>T (n.*24A>T) c.707A>T (p.Asp236Val) c.704A>T (p.Asp235Val) | |
| 11 | g.67490885C>A | CA381555136 | AIP | c.1192C>A c.696C>A (p.Asp232Glu) n.1727C>A c.469-112C>A (n.469-112C>A) c.516C>A (p.Asp172Glu) c.885C>A (p.Asp295Glu) c.*25C>A (n.*25C>A) c.708C>A (p.Asp236Glu) c.705C>A (p.Asp235Glu) | ClinVar |
| 11 | g.67490885C= | CA1980172681 | AIP | c.1192C= c.696C= (p.Asp232=) n.1727C= c.469-112C= (n.469-112C=) c.516C= (p.Asp172=) c.885C= (p.Asp295=) c.*25C= (n.*25C=) c.708C= (p.Asp236=) c.705C= (p.Asp235=) | |
| 11 | g.67490885C>G | CA381555137 | AIP | c.1192C>G c.696C>G (p.Asp232Glu) n.1727C>G c.469-112C>G (n.469-112C>G) c.516C>G (p.Asp172Glu) c.885C>G (p.Asp295Glu) c.*25C>G (n.*25C>G) c.708C>G (p.Asp236Glu) c.705C>G (p.Asp235Glu) | ClinVar dbSNP gnomAD v2 |
| 11 | g.67490885C>T | CA475509587 | AIP | c.1192C>T c.696C>T (p.Asp232=) n.1727C>T c.469-112C>T (n.469-112C>T) c.516C>T (p.Asp172=) c.885C>T (p.Asp295=) c.*25C>T (n.*25C>T) c.708C>T (p.Asp236=) c.705C>T (p.Asp235=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490886C>A | CA381555141 | AIP | c.1193C>A c.697C>A (p.Pro233Thr) n.1728C>A c.469-111C>A (n.469-111C>A) c.517C>A (p.Pro173Thr) c.886C>A (p.Pro296Thr) c.*26C>A (n.*26C>A) c.709C>A (p.Pro237Thr) c.706C>A (p.Pro236Thr) c.697C>A | |
| 11 | g.67490886C= | CA1980172682 | AIP | c.1193C= c.697C= (p.Pro233=) n.1728C= c.469-111C= (n.469-111C=) c.517C= (p.Pro173=) c.886C= (p.Pro296=) c.*26C= (n.*26C=) c.709C= (p.Pro237=) c.706C= (p.Pro236=) c.697C= |