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.67490805_67490825dup | CA344192 | AIP | c.1112_1132dup c.616_636dup (p.His212_Ala213insPheLysArgGlyLysAlaHis) n.1647_1667dup c.469-192_469-172dup (n.469-192_469-172dup) c.436_456dup (p.His152_Ala153insPheLysArgGlyLysAlaHis) c.805_825dup (p.His275_Ala276insPheLysArgGlyLysAlaHis) c.797_817dup (p.Pro272_Arg273insLeuGlnAlaGlyGlnGlyPro) c.628_648dup (p.His216_Ala217insPheLysArgGlyLysAlaHis) c.794_814dup (p.Pro271_Arg272insLeuGlnAlaGlyGlnGlyPro) c.625_645dup (p.His215_Ala216insPheLysArgGlyLysAlaHis) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490820G>A | CA381554520 | AIP | c.1127G>A c.631G>A (p.Ala211Thr) n.1662G>A c.469-177G>A (n.469-177G>A) c.451G>A (p.Ala151Thr) c.820G>A (p.Ala274Thr) c.812G>A (p.Gly271Asp) c.643G>A (p.Ala215Thr) c.809G>A (p.Gly270Asp) c.640G>A (p.Ala214Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490820G>C | CA381554523 | AIP | c.1127G>C c.631G>C (p.Ala211Pro) n.1662G>C c.469-177G>C (n.469-177G>C) c.451G>C (p.Ala151Pro) c.820G>C (p.Ala274Pro) c.812G>C (p.Gly271Ala) c.643G>C (p.Ala215Pro) c.809G>C (p.Gly270Ala) c.640G>C (p.Ala214Pro) | |
| 11 | g.67490820G>T | CA381554516 | AIP | c.1127G>T c.631G>T (p.Ala211Ser) n.1662G>T c.469-177G>T (n.469-177G>T) c.451G>T (p.Ala151Ser) c.820G>T (p.Ala274Ser) c.812G>T (p.Gly271Val) c.643G>T (p.Ala215Ser) c.809G>T (p.Gly270Val) c.640G>T (p.Ala214Ser) | |
| 11 | g.67490820_67490821delinsTT | CA2739270610 | AIP | c.1127_1128delinsTT c.631_632delinsTT (p.Ala211Phe) n.1662_1663delinsTT c.469-177_469-176delinsTT (n.469-177_469-176delinsTT) c.451_452delinsTT (p.Ala151Phe) c.820_821delinsTT (p.Ala274Phe) c.812_813delinsTT (p.Gly271Val) c.643_644delinsTT (p.Ala215Phe) c.809_810delinsTT (p.Gly270Val) c.640_641delinsTT (p.Ala214Phe) | ClinVar |
| 11 | g.67490821C>A | CA381554527 | AIP | c.1128C>A c.632C>A (p.Ala211Asp) n.1663C>A c.469-176C>A (n.469-176C>A) c.452C>A (p.Ala151Asp) c.821C>A (p.Ala274Asp) c.813C>A (p.Gly271=) c.644C>A (p.Ala215Asp) c.810C>A (p.Gly270=) c.641C>A (p.Ala214Asp) | |
| 11 | g.67490821C>G | CA381554531 | AIP | c.1128C>G c.632C>G (p.Ala211Gly) n.1663C>G c.469-176C>G (n.469-176C>G) c.452C>G (p.Ala151Gly) c.821C>G (p.Ala274Gly) c.813C>G (p.Gly271=) c.644C>G (p.Ala215Gly) c.810C>G (p.Gly270=) c.641C>G (p.Ala214Gly) | |
| 11 | g.67490821C>T | CA381554535 | AIP | c.1128C>T c.632C>T (p.Ala211Val) n.1663C>T c.469-176C>T (n.469-176C>T) c.452C>T (p.Ala151Val) c.821C>T (p.Ala274Val) c.813C>T (p.Gly271=) c.644C>T (p.Ala215Val) c.810C>T (p.Gly270=) c.641C>T (p.Ala214Val) | ClinVar |
| 11 | g.67490822C>A | CA6140984 | AIP | c.1129C>A c.633C>A (p.Ala211=) n.1664C>A c.469-175C>A (n.469-175C>A) c.453C>A (p.Ala151=) c.822C>A (p.Ala274=) c.814C>A (p.Pro272Thr) c.645C>A (p.Ala215=) c.811C>A (p.Pro271Thr) c.642C>A (p.Ala214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490822C= | CA1980172649 | AIP | c.1129C= c.633C= (p.Ala211=) n.1664C= c.469-175C= (n.469-175C=) c.453C= (p.Ala151=) c.822C= (p.Ala274=) c.814C= (p.Pro272=) c.645C= (p.Ala215=) c.811C= (p.Pro271=) c.642C= (p.Ala214=) | |
| 11 | g.67490822C>G | CA475509470 | AIP | c.1129C>G c.633C>G (p.Ala211=) n.1664C>G c.469-175C>G (n.469-175C>G) c.453C>G (p.Ala151=) c.822C>G (p.Ala274=) c.814C>G (p.Pro272Ala) c.645C>G (p.Ala215=) c.811C>G (p.Pro271Ala) c.642C>G (p.Ala214=) | |
| 11 | g.67490822C>T | CA475509468 | AIP | c.1129C>T c.633C>T (p.Ala211=) n.1664C>T c.469-175C>T (n.469-175C>T) c.453C>T (p.Ala151=) c.822C>T (p.Ala274=) c.814C>T (p.Pro272Ser) c.645C>T (p.Ala215=) c.811C>T (p.Pro271Ser) c.642C>T (p.Ala214=) | |
| 11 | g.67490823C>A | CA381554549 | AIP | c.1130C>A c.634C>A (p.His212Asn) n.1665C>A c.469-174C>A (n.469-174C>A) c.454C>A (p.His152Asn) c.823C>A (p.His275Asn) c.815C>A (p.Pro272Gln) c.646C>A (p.His216Asn) c.812C>A (p.Pro271Gln) c.643C>A (p.His215Asn) | |
| 11 | g.67490823C= | CA1980172650 | AIP | c.1130C= c.634C= (p.His212=) n.1665C= c.469-174C= (n.469-174C=) c.454C= (p.His152=) c.823C= (p.His275=) c.815C= (p.Pro272=) c.646C= (p.His216=) c.812C= (p.Pro271=) c.643C= (p.His215=) | |
| 11 | g.67490823C>G | CA381554552 | AIP | c.1130C>G c.634C>G (p.His212Asp) n.1665C>G c.469-174C>G (n.469-174C>G) c.454C>G (p.His152Asp) c.823C>G (p.His275Asp) c.815C>G (p.Pro272Arg) c.646C>G (p.His216Asp) c.812C>G (p.Pro271Arg) c.643C>G (p.His215Asp) | |
| 11 | g.67490823C>T | CA381554557 | AIP | c.1130C>T c.634C>T (p.His212Tyr) n.1665C>T c.469-174C>T (n.469-174C>T) c.454C>T (p.His152Tyr) c.823C>T (p.His275Tyr) c.815C>T (p.Pro272Leu) c.646C>T (p.His216Tyr) c.812C>T (p.Pro271Leu) c.643C>T (p.His215Tyr) | ClinVar gnomAD v4 |
| 11 | g.67490824A>C | CA381554561 | AIP | c.1131A>C c.635A>C (p.His212Pro) n.1666A>C c.469-173A>C (n.469-173A>C) c.455A>C (p.His152Pro) c.824A>C (p.His275Pro) c.816A>C (p.Pro272=) c.647A>C (p.His216Pro) c.813A>C (p.Pro271=) c.644A>C (p.His215Pro) | |
| 11 | g.67490824A>G | CA381554575 | AIP | c.1131A>G c.635A>G (p.His212Arg) n.1666A>G c.469-173A>G (n.469-173A>G) c.455A>G (p.His152Arg) c.824A>G (p.His275Arg) c.816A>G (p.Pro272=) c.647A>G (p.His216Arg) c.813A>G (p.Pro271=) c.644A>G (p.His215Arg) | |
| 11 | g.67490824A>T | CA381554579 | AIP | c.1131A>T c.635A>T (p.His212Leu) n.1666A>T c.469-173A>T (n.469-173A>T) c.455A>T (p.His152Leu) c.824A>T (p.His275Leu) c.816A>T (p.Pro272=) c.647A>T (p.His216Leu) c.813A>T (p.Pro271=) c.644A>T (p.His215Leu) | |
| 11 | g.67490824dup | CA340306 | AIP | c.1131dup c.635dup (p.His212GlnfsTer13) n.1666dup c.469-173dup (n.469-173dup) c.455dup (p.His152GlnfsTer13) c.824dup (p.His275GlnfsTer13) c.816dup (p.Arg273ThrfsTer28) c.647dup (p.His216GlnfsTer13) c.813dup (p.Arg272ThrfsTer28) c.644dup (p.His215GlnfsTer13) | ClinVar dbSNP |
| 11 | g.67490825C>A | CA381554585 | AIP | c.1132C>A c.636C>A (p.His212Gln) n.1667C>A c.469-172C>A (n.469-172C>A) c.456C>A (p.His152Gln) c.825C>A (p.His275Gln) c.817C>A (p.Arg273Ser) c.648C>A (p.His216Gln) c.814C>A (p.Arg272Ser) c.645C>A (p.His215Gln) | |
| 11 | g.67490825C= | CA1980172651 | AIP | c.1132C= c.636C= (p.His212=) n.1667C= c.469-172C= (n.469-172C=) c.456C= (p.His152=) c.825C= (p.His275=) c.817C= (p.Arg273=) c.648C= (p.His216=) c.814C= (p.Arg272=) c.645C= (p.His215=) | |
| 11 | g.67490825C>G | CA381554594 | AIP | c.1132C>G c.636C>G (p.His212Gln) n.1667C>G c.469-172C>G (n.469-172C>G) c.456C>G (p.His152Gln) c.825C>G (p.His275Gln) c.817C>G (p.Arg273Gly) c.648C>G (p.His216Gln) c.814C>G (p.Arg272Gly) c.645C>G (p.His215Gln) | gnomAD v4 |
| 11 | g.67490825C>T | CA6140985 | AIP | c.1132C>T c.636C>T (p.His212=) n.1667C>T c.469-172C>T (n.469-172C>T) c.456C>T (p.His152=) c.825C>T (p.His275=) c.817C>T (p.Arg273Cys) c.648C>T (p.His216=) c.814C>T (p.Arg272Cys) c.645C>T (p.His215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490826G>A | CA6140986 | AIP | c.1133G>A c.637G>A (p.Ala213Thr) n.1668G>A c.469-171G>A (n.469-171G>A) c.457G>A (p.Ala153Thr) c.826G>A (p.Ala276Thr) c.818G>A (p.Arg273His) c.649G>A (p.Ala217Thr) c.815G>A (p.Arg272His) c.646G>A (p.Ala216Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490826G>C | CA381554609 | AIP | c.1133G>C c.637G>C (p.Ala213Pro) n.1668G>C c.469-171G>C (n.469-171G>C) c.457G>C (p.Ala153Pro) c.826G>C (p.Ala276Pro) c.818G>C (p.Arg273Pro) c.649G>C (p.Ala217Pro) c.815G>C (p.Arg272Pro) c.646G>C (p.Ala216Pro) | |
| 11 | g.67490826G= | CA1980172652 | AIP | c.1133G= c.637G= (p.Ala213=) n.1668G= c.469-171G= (n.469-171G=) c.457G= (p.Ala153=) c.826G= (p.Ala276=) c.818G= (p.Arg273=) c.649G= (p.Ala217=) c.815G= (p.Arg272=) c.646G= (p.Ala216=) | |
| 11 | g.67490826G>T | CA381554606 | AIP | c.1133G>T c.637G>T (p.Ala213Ser) n.1668G>T c.469-171G>T (n.469-171G>T) c.457G>T (p.Ala153Ser) c.826G>T (p.Ala276Ser) c.818G>T (p.Arg273Leu) c.649G>T (p.Ala217Ser) c.815G>T (p.Arg272Leu) c.646G>T (p.Ala216Ser) | |
| 11 | g.67490836_67490837insCCCAGCGGCCGTGTG | CA600236229 | AIP | c.1143_1144insCCCAGCGGCCGTGTG c.647_648insCCCAGCGGCCGTGTG (p.Val215_Trp216insCysProAlaAlaVal) n.1678_1679insCCCAGCGGCCGTGTG c.469-161_469-160insCCCAGCGGCCGTGTG (n.469-161_469-160insCCCAGCGGCCGTGTG) c.467_468insCCCAGCGGCCGTGTG (p.Val155_Trp156insCysProAlaAlaVal) c.836_837insCCCAGCGGCCGTGTG (p.Val278_Trp279insCysProAlaAlaVal) c.828_829insCCCAGCGGCCGTGTG (p.Val276_Glu277insProSerGlyArgVal) c.659_660insCCCAGCGGCCGTGTG (p.Val219_Trp220insCysProAlaAlaVal) c.825_826insCCCAGCGGCCGTGTG (p.Val275_Glu276insProSerGlyArgVal) c.656_657insCCCAGCGGCCGTGTG (p.Val218_Trp219insCysProAlaAlaVal) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490827C>A | CA381554615 | AIP | c.1134C>A c.638C>A (p.Ala213Glu) n.1669C>A c.469-170C>A (n.469-170C>A) c.458C>A (p.Ala153Glu) c.827C>A (p.Ala276Glu) c.819C>A (p.Arg273=) c.650C>A (p.Ala217Glu) c.816C>A (p.Arg272=) c.647C>A (p.Ala216Glu) | dbSNP |
| 11 | g.67490827C= | CA1980172653 | AIP | c.1134C= c.638C= (p.Ala213=) n.1669C= c.469-170C= (n.469-170C=) c.458C= (p.Ala153=) c.827C= (p.Ala276=) c.819C= (p.Arg273=) c.650C= (p.Ala217=) c.816C= (p.Arg272=) c.647C= (p.Ala216=) | |
| 11 | g.67490827C>G | CA381554619 | AIP | c.1134C>G c.638C>G (p.Ala213Gly) n.1669C>G c.469-170C>G (n.469-170C>G) c.458C>G (p.Ala153Gly) c.827C>G (p.Ala276Gly) c.819C>G (p.Arg273=) c.650C>G (p.Ala217Gly) c.816C>G (p.Arg272=) c.647C>G (p.Ala216Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490827C>T | CA6140987 | AIP | c.1134C>T c.638C>T (p.Ala213Val) n.1669C>T c.469-170C>T (n.469-170C>T) c.458C>T (p.Ala153Val) c.827C>T (p.Ala276Val) c.819C>T (p.Arg273=) c.650C>T (p.Ala217Val) c.816C>T (p.Arg272=) c.647C>T (p.Ala216Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490828G>A | CA475509478 | AIP | c.1135G>A c.639G>A (p.Ala213=) n.1670G>A c.469-169G>A (n.469-169G>A) c.459G>A (p.Ala153=) c.828G>A (p.Ala276=) c.820G>A (p.Gly274Ser) c.651G>A (p.Ala217=) c.817G>A (p.Gly273Ser) c.648G>A (p.Ala216=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490828G>C | CA475509479 | AIP | c.1135G>C c.639G>C (p.Ala213=) n.1670G>C c.469-169G>C (n.469-169G>C) c.459G>C (p.Ala153=) c.828G>C (p.Ala276=) c.820G>C (p.Gly274Arg) c.651G>C (p.Ala217=) c.817G>C (p.Gly273Arg) c.648G>C (p.Ala216=) | |
| 11 | g.67490828G= | CA1980172654 | AIP | c.1135G= c.639G= (p.Ala213=) n.1670G= c.469-169G= (n.469-169G=) c.459G= (p.Ala153=) c.828G= (p.Ala276=) c.820G= (p.Gly274=) c.651G= (p.Ala217=) c.817G= (p.Gly273=) c.648G= (p.Ala216=) | |
| 11 | g.67490828G>T | CA475509480 | AIP | c.1135G>T c.639G>T (p.Ala213=) n.1670G>T c.469-169G>T (n.469-169G>T) c.459G>T (p.Ala153=) c.828G>T (p.Ala276=) c.820G>T (p.Gly274Cys) c.651G>T (p.Ala217=) c.817G>T (p.Gly273Cys) c.648G>T (p.Ala216=) | |
| 11 | g.67490829G>A | CA381554627 | AIP | c.1136G>A c.640G>A (p.Ala214Thr) n.1671G>A c.469-168G>A (n.469-168G>A) c.460G>A (p.Ala154Thr) c.829G>A (p.Ala277Thr) c.821G>A (p.Gly274Asp) c.652G>A (p.Ala218Thr) c.818G>A (p.Gly273Asp) c.649G>A (p.Ala217Thr) | |
| 11 | g.67490829G>C | CA344205 | AIP | c.1136G>C c.640G>C (p.Ala214Pro) n.1671G>C c.469-168G>C (n.469-168G>C) c.460G>C (p.Ala154Pro) c.829G>C (p.Ala277Pro) c.821G>C (p.Gly274Ala) c.652G>C (p.Ala218Pro) c.818G>C (p.Gly273Ala) c.649G>C (p.Ala217Pro) | ClinVar dbSNP |
| 11 | g.67490829G= | CA1980172655 | AIP | c.1136G= c.640G= (p.Ala214=) n.1671G= c.469-168G= (n.469-168G=) c.460G= (p.Ala154=) c.829G= (p.Ala277=) c.821G= (p.Gly274=) c.652G= (p.Ala218=) c.818G= (p.Gly273=) c.649G= (p.Ala217=) | |
| 11 | g.67490829G>T | CA381554635 | AIP | c.1136G>T c.640G>T (p.Ala214Ser) n.1671G>T c.469-168G>T (n.469-168G>T) c.460G>T (p.Ala154Ser) c.829G>T (p.Ala277Ser) c.821G>T (p.Gly274Val) c.652G>T (p.Ala218Ser) c.818G>T (p.Gly273Val) c.649G>T (p.Ala217Ser) | |
| 11 | g.67490830C>A | CA381554639 | AIP | c.1137C>A c.641C>A (p.Ala214Asp) n.1672C>A c.469-167C>A (n.469-167C>A) c.461C>A (p.Ala154Asp) c.830C>A (p.Ala277Asp) c.822C>A (p.Gly274=) c.653C>A (p.Ala218Asp) c.819C>A (p.Gly273=) c.650C>A (p.Ala217Asp) | COSMIC |
| 11 | g.67490830C= | CA1980172656 | AIP | c.1137C= c.641C= (p.Ala214=) n.1672C= c.469-167C= (n.469-167C=) c.461C= (p.Ala154=) c.830C= (p.Ala277=) c.822C= (p.Gly274=) c.653C= (p.Ala218=) c.819C= (p.Gly273=) c.650C= (p.Ala217=) | |
| 11 | g.67490830C>G | CA381554642 | AIP | c.1137C>G c.641C>G (p.Ala214Gly) n.1672C>G c.469-167C>G (n.469-167C>G) c.461C>G (p.Ala154Gly) c.830C>G (p.Ala277Gly) c.822C>G (p.Gly274=) c.653C>G (p.Ala218Gly) c.819C>G (p.Gly273=) c.650C>G (p.Ala217Gly) | |
| 11 | g.67490830C>T | CA381554648 | AIP | c.1137C>T c.641C>T (p.Ala214Val) n.1672C>T c.469-167C>T (n.469-167C>T) c.461C>T (p.Ala154Val) c.830C>T (p.Ala277Val) c.822C>T (p.Gly274=) c.653C>T (p.Ala218Val) c.819C>T (p.Gly273=) c.650C>T (p.Ala217Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490831C>A | CA475509485 | AIP | c.1138C>A c.642C>A (p.Ala214=) n.1673C>A c.469-166C>A (n.469-166C>A) c.462C>A (p.Ala154=) c.831C>A (p.Ala277=) c.823C>A (p.Arg275Ser) c.654C>A (p.Ala218=) c.820C>A (p.Arg274Ser) c.651C>A (p.Ala217=) | |
| 11 | g.67490831C= | CA1980172657 | AIP | c.1138C= c.642C= (p.Ala214=) n.1673C= c.469-166C= (n.469-166C=) c.462C= (p.Ala154=) c.831C= (p.Ala277=) c.823C= (p.Arg275=) c.654C= (p.Ala218=) c.820C= (p.Arg274=) c.651C= (p.Ala217=) | |
| 11 | g.67490831C>G | CA475509487 | AIP | c.1138C>G c.642C>G (p.Ala214=) n.1673C>G c.469-166C>G (n.469-166C>G) c.462C>G (p.Ala154=) c.831C>G (p.Ala277=) c.823C>G (p.Arg275Gly) c.654C>G (p.Ala218=) c.820C>G (p.Arg274Gly) c.651C>G (p.Ala217=) | |
| 11 | g.67490831C>T | CA6140988 | AIP | c.1138C>T c.642C>T (p.Ala214=) n.1673C>T c.469-166C>T (n.469-166C>T) c.462C>T (p.Ala154=) c.831C>T (p.Ala277=) c.823C>T (p.Arg275Cys) c.654C>T (p.Ala218=) c.820C>T (p.Arg274Cys) c.651C>T (p.Ala217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490832G>A | CA6140989 | AIP | c.1139G>A c.643G>A (p.Val215Met) n.1674G>A c.469-165G>A (n.469-165G>A) c.463G>A (p.Val155Met) c.832G>A (p.Val278Met) c.824G>A (p.Arg275His) c.655G>A (p.Val219Met) c.821G>A (p.Arg274His) c.652G>A (p.Val218Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |