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 |
|---|---|---|---|---|---|
| X | g.108591131_108591155delinsACCTGGAATTTCCATTCCTGGACCT | CA2450686414 | COL4A5 | c.1239_1263delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro413=) n.695_719delinsACCTGGAATTTCCATTCCTGGACCT c.915_939delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro305=) c.1254_1278delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro418=) c.-471_-447delinsACCTGGAATTTCCATTCCTGGACCT (n.-471_-447delinsACCTGGAATTTCCATTCCTGGACCT) | |
| X | g.108591138_108591161del | CA891843923 | COL4A5 | c.1246_1269del (p.Ile416_Gly423del) n.702_725del c.922_945del (p.Ile308_Gly315del) c.1261_1284del (p.Ile421_Gly428del) c.-464_-441del (n.-464_-441del) | |
| X | g.108591141_108591164dup | CA2450686417 | COL4A5 | c.1249_1272dup (p.Leu424_Asp425insSerIleProGlyProProGlyLeu) n.705_728dup c.925_948dup (p.Leu316_Asp317insSerIleProGlyProProGlyLeu) c.1264_1287dup (p.Leu429_Asp430insSerIleProGlyProProGlyLeu) c.-461_-438dup (n.-461_-438dup) | ClinVar dbSNP |
| X | g.108591142C>A | CA413932638 | COL4A5 | c.1250C>A (p.Ser417Tyr) n.706C>A c.926C>A (p.Ser309Tyr) c.1265C>A (p.Ser422Tyr) c.-460C>A (n.-460C>A) | |
| X | g.108591142C>G | CA413932637 | COL4A5 | c.1250C>G (p.Ser417Cys) n.706C>G c.926C>G (p.Ser309Cys) c.1265C>G (p.Ser422Cys) c.-460C>G (n.-460C>G) | |
| X | g.108591142C>T | CA413932636 | COL4A5 | c.1250C>T (p.Ser417Phe) n.706C>T c.926C>T (p.Ser309Phe) c.1265C>T (p.Ser422Phe) c.-460C>T (n.-460C>T) | gnomAD v4 COSMIC |
| X | g.108591143C>A | CA517992195 | COL4A5 | c.1251C>A (p.Ser417=) n.707C>A c.927C>A (p.Ser309=) c.1266C>A (p.Ser422=) c.-459C>A (n.-459C>A) | gnomAD v4 |
| X | g.108591143C>G | CA517992196 | COL4A5 | c.1251C>G (p.Ser417=) n.707C>G c.927C>G (p.Ser309=) c.1266C>G (p.Ser422=) c.-459C>G (n.-459C>G) | |
| X | g.108591143C>T | CA517992197 | COL4A5 | c.1251C>T (p.Ser417=) n.707C>T c.927C>T (p.Ser309=) c.1266C>T (p.Ser422=) c.-459C>T (n.-459C>T) | COSMIC COSMIC |
| X | g.108591144A>C | CA413932640 | COL4A5 | c.1252A>C (p.Ile418Leu) n.708A>C c.928A>C (p.Ile310Leu) c.1267A>C (p.Ile423Leu) c.-458A>C (n.-458A>C) | |
| X | g.108591144A>G | CA413932642 | COL4A5 | c.1252A>G (p.Ile418Val) n.708A>G c.928A>G (p.Ile310Val) c.1267A>G (p.Ile423Val) c.-458A>G (n.-458A>G) | |
| X | g.108591144A>T | CA413932644 | COL4A5 | c.1252A>T (p.Ile418Phe) n.708A>T c.928A>T (p.Ile310Phe) c.1267A>T (p.Ile423Phe) c.-458A>T (n.-458A>T) | |
| X | g.108591144_108591145delinsAT | CA2450686418 | COL4A5 | c.1252_1253delinsAT (p.Ile418=) n.708_709delinsAT c.928_929delinsAT (p.Ile310=) c.1267_1268delinsAT (p.Ile423=) c.-458_-457delinsAT (n.-458_-457delinsAT) | |
| X | g.108591145T>A | CA413932646 | COL4A5 | c.1253T>A (p.Ile418Asn) n.709T>A c.929T>A (p.Ile310Asn) c.1268T>A (p.Ile423Asn) c.-457T>A (n.-457T>A) | |
| X | g.108591145T>C | CA413932649 | COL4A5 | c.1253T>C (p.Ile418Thr) n.709T>C c.929T>C (p.Ile310Thr) c.1268T>C (p.Ile423Thr) c.-457T>C (n.-457T>C) | |
| X | g.108591145T>G | CA413932655 | COL4A5 | c.1253T>G (p.Ile418Ser) n.709T>G c.929T>G (p.Ile310Ser) c.1268T>G (p.Ile423Ser) c.-457T>G (n.-457T>G) | |
| X | g.108591146del | CA258443 | COL4A5 | c.1254del (p.Pro419LeufsTer?) n.710del c.930del (p.Pro311LeufsTer?) c.1269del (p.Pro424LeufsTer?) c.-456del (n.-456del) | dbSNP |
| X | g.108591146T>A | CA517992198 | COL4A5 | c.1254T>A (p.Ile418=) n.710T>A c.930T>A (p.Ile310=) c.1269T>A (p.Ile423=) c.-456T>A (n.-456T>A) | |
| X | g.108591146T>C | CA517992199 | COL4A5 | c.1254T>C (p.Ile418=) n.710T>C c.930T>C (p.Ile310=) c.1269T>C (p.Ile423=) c.-456T>C (n.-456T>C) | ClinVar dbSNP |
| X | g.108591146T>G | CA413932659 | COL4A5 | c.1254T>G (p.Ile418Met) n.710T>G c.930T>G (p.Ile310Met) c.1269T>G (p.Ile423Met) c.-456T>G (n.-456T>G) | |
| X | g.108591147C>A | CA413932661 | COL4A5 | c.1255C>A (p.Pro419Thr) n.711C>A c.931C>A (p.Pro311Thr) c.1270C>A (p.Pro424Thr) c.-455C>A (n.-455C>A) | |
| X | g.108591147C>G | CA413932662 | COL4A5 | c.1255C>G (p.Pro419Ala) n.711C>G c.931C>G (p.Pro311Ala) c.1270C>G (p.Pro424Ala) c.-455C>G (n.-455C>G) | |
| X | g.108591147C>T | CA413932663 | COL4A5 | c.1255C>T (p.Pro419Ser) n.711C>T c.931C>T (p.Pro311Ser) c.1270C>T (p.Pro424Ser) c.-455C>T (n.-455C>T) | |
| X | g.108591148C>A | CA413932666 | COL4A5 | c.1256C>A (p.Pro419His) n.712C>A c.932C>A (p.Pro311His) c.1271C>A (p.Pro424His) c.-454C>A (n.-454C>A) | |
| X | g.108591148C>G | CA413932670 | COL4A5 | c.1256C>G (p.Pro419Arg) n.712C>G c.932C>G (p.Pro311Arg) c.1271C>G (p.Pro424Arg) c.-454C>G (n.-454C>G) | |
| X | g.108591148C>T | CA413932665 | COL4A5 | c.1256C>T (p.Pro419Leu) n.712C>T c.932C>T (p.Pro311Leu) c.1271C>T (p.Pro424Leu) c.-454C>T (n.-454C>T) | gnomAD v4 |
| X | g.108591149T>A | CA517992200 | COL4A5 | c.1257T>A (p.Pro419=) n.713T>A c.933T>A (p.Pro311=) c.1272T>A (p.Pro424=) c.-453T>A (n.-453T>A) | |
| X | g.108591149T>C | CA517992201 | COL4A5 | c.1257T>C (p.Pro419=) n.713T>C c.933T>C (p.Pro311=) c.1272T>C (p.Pro424=) c.-453T>C (n.-453T>C) | |
| X | g.108591149T>G | CA517992202 | COL4A5 | c.1257T>G (p.Pro419=) n.713T>G c.933T>G (p.Pro311=) c.1272T>G (p.Pro424=) c.-453T>G (n.-453T>G) | ClinVar |
| X | g.108591150G>A | CA413932671 | COL4A5 | c.1258G>A (p.Gly420Arg) n.714G>A c.934G>A (p.Gly312Arg) c.1273G>A (p.Gly425Arg) c.-452G>A (n.-452G>A) | ClinVar dbSNP |
| X | g.108591150G>C | CA413932672 | COL4A5 | c.1258G>C (p.Gly420Arg) n.714G>C c.934G>C (p.Gly312Arg) c.1273G>C (p.Gly425Arg) c.-452G>C (n.-452G>C) | |
| X | g.108591150G= | CA2450686419 | COL4A5 | c.1258G= (p.Gly420=) n.714G= c.934G= (p.Gly312=) c.1273G= (p.Gly425=) c.-452G= (n.-452G=) | |
| X | g.108591150G>T | CA413932675 | COL4A5 | c.1258G>T (p.Gly420Ter) n.714G>T c.934G>T (p.Gly312Ter) c.1273G>T (p.Gly425Ter) c.-452G>T (n.-452G>T) | |
| X | g.108591151del | CA2579676150 | COL4A5 | c.1259del (p.Gly420AspfsTer?) n.715del c.935del (p.Gly312AspfsTer?) c.1274del (p.Gly425AspfsTer?) c.-451del (n.-451del) | |
| X | g.108591151G>A | CA258444 | COL4A5 | c.1259G>A (p.Gly420Glu) n.715G>A c.935G>A (p.Gly312Glu) c.1274G>A (p.Gly425Glu) c.-451G>A (n.-451G>A) | dbSNP |
| X | g.108591151G>C | CA413932684 | COL4A5 | c.1259G>C (p.Gly420Ala) n.715G>C c.935G>C (p.Gly312Ala) c.1274G>C (p.Gly425Ala) c.-451G>C (n.-451G>C) | |
| X | g.108591151G= | CA2450686420 | COL4A5 | c.1259G= (p.Gly420=) n.715G= c.935G= (p.Gly312=) c.1274G= (p.Gly425=) c.-451G= (n.-451G=) | |
| X | g.108591151G>T | CA413932686 | COL4A5 | c.1259G>T (p.Gly420Val) n.715G>T c.935G>T (p.Gly312Val) c.1274G>T (p.Gly425Val) c.-451G>T (n.-451G>T) | ClinVar dbSNP |
| X | g.108591152A>C | CA517992203 | COL4A5 | c.1260A>C (p.Gly420=) n.716A>C c.936A>C (p.Gly312=) c.1275A>C (p.Gly425=) c.-450A>C (n.-450A>C) | |
| X | g.108591152A>G | CA517992204 | COL4A5 | c.1260A>G (p.Gly420=) n.716A>G c.936A>G (p.Gly312=) c.1275A>G (p.Gly425=) c.-450A>G (n.-450A>G) | |
| X | g.108591152A>T | CA517992205 | COL4A5 | c.1260A>T (p.Gly420=) n.716A>T c.936A>T (p.Gly312=) c.1275A>T (p.Gly425=) c.-450A>T (n.-450A>T) | |
| X | g.108591153C>A | CA413932696 | COL4A5 | c.1261C>A (p.Pro421Thr) n.717C>A c.937C>A (p.Pro313Thr) c.1276C>A (p.Pro426Thr) c.-449C>A (n.-449C>A) | |
| X | g.108591153C>G | CA413932702 | COL4A5 | c.1261C>G (p.Pro421Ala) n.717C>G c.937C>G (p.Pro313Ala) c.1276C>G (p.Pro426Ala) c.-449C>G (n.-449C>G) | |
| X | g.108591153C>T | CA413932714 | COL4A5 | c.1261C>T (p.Pro421Ser) n.717C>T c.937C>T (p.Pro313Ser) c.1276C>T (p.Pro426Ser) c.-449C>T (n.-449C>T) | |
| X | g.108591154C>A | CA413932733 | COL4A5 | c.1262C>A (p.Pro421His) n.718C>A c.938C>A (p.Pro313His) c.1277C>A (p.Pro426His) c.-448C>A (n.-448C>A) | |
| X | g.108591154C>G | CA413932735 | COL4A5 | c.1262C>G (p.Pro421Arg) n.718C>G c.938C>G (p.Pro313Arg) c.1277C>G (p.Pro426Arg) c.-448C>G (n.-448C>G) | |
| X | g.108591154C>T | CA413932739 | COL4A5 | c.1262C>T (p.Pro421Leu) n.718C>T c.938C>T (p.Pro313Leu) c.1277C>T (p.Pro426Leu) c.-448C>T (n.-448C>T) | |
| X | g.108591155T>A | CA517992206 | COL4A5 | c.1263T>A (p.Pro421=) n.719T>A c.939T>A (p.Pro313=) c.1278T>A (p.Pro426=) c.-447T>A (n.-447T>A) | |
| X | g.108591155T>C | CA517992207 | COL4A5 | c.1263T>C (p.Pro421=) n.719T>C c.939T>C (p.Pro313=) c.1278T>C (p.Pro426=) c.-447T>C (n.-447T>C) | |
| X | g.108591155T>G | CA517992208 | COL4A5 | c.1263T>G (p.Pro421=) n.719T>G c.939T>G (p.Pro313=) c.1278T>G (p.Pro426=) c.-447T>G (n.-447T>G) | COSMIC COSMIC |