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.67490871G>A | CA381555021 | AIP | c.1178G>A c.682G>A (p.Val228Met) n.1713G>A c.469-126G>A (n.469-126G>A) c.502G>A (p.Val168Met) c.871G>A (p.Val291Met) c.*11G>A (n.*11G>A) c.694G>A (p.Val232Met) c.691G>A (p.Val231Met) | |
| 11 | g.67490871G>C | CA381555026 | AIP | c.1178G>C c.682G>C (p.Val228Leu) n.1713G>C c.469-126G>C (n.469-126G>C) c.502G>C (p.Val168Leu) c.871G>C (p.Val291Leu) c.*11G>C (n.*11G>C) c.694G>C (p.Val232Leu) c.691G>C (p.Val231Leu) | |
| 11 | g.67490871G>T | CA381555030 | AIP | c.1178G>T c.682G>T (p.Val228Leu) n.1713G>T c.469-126G>T (n.469-126G>T) c.502G>T (p.Val168Leu) c.871G>T (p.Val291Leu) c.*11G>T (n.*11G>T) c.694G>T (p.Val232Leu) c.691G>T (p.Val231Leu) | |
| 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.67490872T>A | CA381555035 | AIP | c.1179T>A c.683T>A (p.Val228Glu) n.1714T>A c.469-125T>A (n.469-125T>A) c.503T>A (p.Val168Glu) c.872T>A (p.Val291Glu) c.*12T>A (n.*12T>A) c.695T>A (p.Val232Glu) c.692T>A (p.Val231Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490872T>C | CA381555042 | AIP | c.1179T>C c.683T>C (p.Val228Ala) n.1714T>C c.469-125T>C (n.469-125T>C) c.503T>C (p.Val168Ala) c.872T>C (p.Val291Ala) c.*12T>C (n.*12T>C) c.695T>C (p.Val232Ala) c.692T>C (p.Val231Ala) | |
| 11 | g.67490872T>G | CA381555039 | AIP | c.1179T>G c.683T>G (p.Val228Gly) n.1714T>G c.469-125T>G (n.469-125T>G) c.503T>G (p.Val168Gly) c.872T>G (p.Val291Gly) c.*12T>G (n.*12T>G) c.695T>G (p.Val232Gly) c.692T>G (p.Val231Gly) | |
| 11 | g.67490872T= | CA1980172675 | AIP | c.1179T= c.683T= (p.Val228=) n.1714T= c.469-125T= (n.469-125T=) c.503T= (p.Val168=) c.872T= (p.Val291=) c.*12T= (n.*12T=) c.695T= (p.Val232=) c.692T= (p.Val231=) | |
| 11 | g.67490873G>A | CA475509555 | AIP | c.1180G>A c.684G>A (p.Val228=) n.1715G>A c.469-124G>A (n.469-124G>A) c.504G>A (p.Val168=) c.873G>A (p.Val291=) c.*13G>A (n.*13G>A) c.696G>A (p.Val232=) c.693G>A (p.Val231=) | |
| 11 | g.67490873G>C | CA475509556 | AIP | c.1180G>C c.684G>C (p.Val228=) n.1715G>C c.469-124G>C (n.469-124G>C) c.504G>C (p.Val168=) c.873G>C (p.Val291=) c.*13G>C (n.*13G>C) c.696G>C (p.Val232=) c.693G>C (p.Val231=) | |
| 11 | g.67490873G>T | CA475509558 | AIP | c.1180G>T c.684G>T (p.Val228=) n.1715G>T c.469-124G>T (n.469-124G>T) c.504G>T (p.Val168=) c.873G>T (p.Val291=) c.*13G>T (n.*13G>T) c.696G>T (p.Val232=) c.693G>T (p.Val231=) | |
| 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 |