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.108595506_108595515delinsTAGGTGACAA | CA2450687726 | COL4A5 | c.1424-3_1430delinsTAGGTGACAA n.880-3_886delinsTAGGTGACAA c.1100-3_1106delinsTAGGTGACAA c.1439-3_1445delinsTAGGTGACAA c.-242-3_-236delinsTAGGTGACAA | |
| X | g.108595515_108595523del | CA658799836 | COL4A5 | c.1430_1438del n.886_894del c.1106_1114del c.1445_1453del c.-236_-228del | ClinVar dbSNP |
| X | g.108595514A>C | CA413935414 | COL4A5 | c.1429A>C (p.Lys477Gln) n.885A>C c.1105A>C (p.Lys369Gln) c.1444A>C (p.Lys482Gln) c.-237A>C (n.-237A>C) | |
| X | g.108595514A>G | CA413935415 | COL4A5 | c.1429A>G (p.Lys477Glu) n.885A>G c.1105A>G (p.Lys369Glu) c.1444A>G (p.Lys482Glu) c.-237A>G (n.-237A>G) | |
| X | g.108595514A>T | CA413935416 | COL4A5 | c.1429A>T (p.Lys477Ter) n.885A>T c.1105A>T (p.Lys369Ter) c.1444A>T (p.Lys482Ter) c.-237A>T (n.-237A>T) | |
| X | g.108595516del | CA2579676214 | COL4A5 | c.1431del (p.Gly478ValfsTer?) n.887del c.1107del (p.Gly370ValfsTer?) c.1446del (p.Gly483ValfsTer?) c.-235del (n.-235del) | |
| X | g.108595515A>C | CA413935417 | COL4A5 | c.1430A>C (p.Lys477Thr) n.886A>C c.1106A>C (p.Lys369Thr) c.1445A>C (p.Lys482Thr) c.-236A>C (n.-236A>C) | |
| X | g.108595515A>G | CA413935419 | COL4A5 | c.1430A>G (p.Lys477Arg) n.886A>G c.1106A>G (p.Lys369Arg) c.1445A>G (p.Lys482Arg) c.-236A>G (n.-236A>G) | |
| X | g.108595515A>T | CA413935423 | COL4A5 | c.1430A>T (p.Lys477Ile) n.886A>T c.1106A>T (p.Lys369Ile) c.1445A>T (p.Lys482Ile) c.-236A>T (n.-236A>T) | |
| X | g.108595516A>C | CA413935426 | COL4A5 | c.1431A>C (p.Lys477Asn) n.887A>C c.1107A>C (p.Lys369Asn) c.1446A>C (p.Lys482Asn) c.-235A>C (n.-235A>C) | |
| X | g.108595516A>G | CA517992334 | COL4A5 | c.1431A>G (p.Lys477=) n.887A>G c.1107A>G (p.Lys369=) c.1446A>G (p.Lys482=) c.-235A>G (n.-235A>G) | |
| X | g.108595516A>T | CA413935428 | COL4A5 | c.1431A>T (p.Lys477Asn) n.887A>T c.1107A>T (p.Lys369Asn) c.1446A>T (p.Lys482Asn) c.-235A>T (n.-235A>T) | |
| X | g.108595517G>A | CA10488742 | COL4A5 | c.1432G>A (p.Gly478Ser) n.888G>A c.1108G>A (p.Gly370Ser) c.1447G>A (p.Gly483Ser) c.-234G>A (n.-234G>A) | dbSNP ExAC |
| X | g.108595517G>C | CA413935431 | COL4A5 | c.1432G>C (p.Gly478Arg) n.888G>C c.1108G>C (p.Gly370Arg) c.1447G>C (p.Gly483Arg) c.-234G>C (n.-234G>C) | |
| X | g.108595517G= | CA2450687730 | COL4A5 | c.1432G= (p.Gly478=) n.888G= c.1108G= (p.Gly370=) c.1447G= (p.Gly483=) c.-234G= (n.-234G=) | |
| X | g.108595517G>T | CA413935433 | COL4A5 | c.1432G>T (p.Gly478Cys) n.888G>T c.1108G>T (p.Gly370Cys) c.1447G>T (p.Gly483Cys) c.-234G>T (n.-234G>T) | ClinVar dbSNP |
| X | g.108595518G>A | CA413935444 | COL4A5 | c.1433G>A (p.Gly478Asp) n.889G>A c.1109G>A (p.Gly370Asp) c.1448G>A (p.Gly483Asp) c.-233G>A (n.-233G>A) | gnomAD v4 |
| X | g.108595518G>C | CA413935441 | COL4A5 | c.1433G>C (p.Gly478Ala) n.889G>C c.1109G>C (p.Gly370Ala) c.1448G>C (p.Gly483Ala) c.-233G>C (n.-233G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108595518G= | CA2450687731 | COL4A5 | c.1433G= (p.Gly478=) n.889G= c.1109G= (p.Gly370=) c.1448G= (p.Gly483=) c.-233G= (n.-233G=) | |
| X | g.108595518G>T | CA413935438 | COL4A5 | c.1433G>T (p.Gly478Val) n.889G>T c.1109G>T (p.Gly370Val) c.1448G>T (p.Gly483Val) c.-233G>T (n.-233G>T) | |
| X | g.108595519T>A | CA517992335 | COL4A5 | c.1434T>A (p.Gly478=) n.890T>A c.1110T>A (p.Gly370=) c.1449T>A (p.Gly483=) c.-232T>A (n.-232T>A) | |
| X | g.108595519T>C | CA517992336 | COL4A5 | c.1434T>C (p.Gly478=) n.890T>C c.1110T>C (p.Gly370=) c.1449T>C (p.Gly483=) c.-232T>C (n.-232T>C) | |
| X | g.108595519T>G | CA517992337 | COL4A5 | c.1434T>G (p.Gly478=) n.890T>G c.1110T>G (p.Gly370=) c.1449T>G (p.Gly483=) c.-232T>G (n.-232T>G) | |
| X | g.108595520G>A | CA413935448 | COL4A5 | c.1435G>A (p.Asp479Asn) n.891G>A c.1111G>A (p.Asp371Asn) c.1450G>A (p.Asp484Asn) c.-231G>A (n.-231G>A) | |
| X | g.108595520G>C | CA413935451 | COL4A5 | c.1435G>C (p.Asp479His) n.891G>C c.1111G>C (p.Asp371His) c.1450G>C (p.Asp484His) c.-231G>C (n.-231G>C) | |
| X | g.108595520G= | CA2450687732 | COL4A5 | c.1435G= (p.Asp479=) n.891G= c.1111G= (p.Asp371=) c.1450G= (p.Asp484=) c.-231G= (n.-231G=) | |
| X | g.108595520G>T | CA10488743 | COL4A5 | c.1435G>T (p.Asp479Tyr) n.891G>T c.1111G>T (p.Asp371Tyr) c.1450G>T (p.Asp484Tyr) c.-231G>T (n.-231G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108595521A>C | CA413935458 | COL4A5 | c.1436A>C (p.Asp479Ala) n.892A>C c.1112A>C (p.Asp371Ala) c.1451A>C (p.Asp484Ala) c.-230A>C (n.-230A>C) | |
| X | g.108595521A>G | CA413935463 | COL4A5 | c.1436A>G (p.Asp479Gly) n.892A>G c.1112A>G (p.Asp371Gly) c.1451A>G (p.Asp484Gly) c.-230A>G (n.-230A>G) | |
| X | g.108595521A>T | CA413935470 | COL4A5 | c.1436A>T (p.Asp479Val) n.892A>T c.1112A>T (p.Asp371Val) c.1451A>T (p.Asp484Val) c.-230A>T (n.-230A>T) | |
| X | g.108595522C>A | CA413935473 | COL4A5 | c.1437C>A (p.Asp479Glu) n.893C>A c.1113C>A (p.Asp371Glu) c.1452C>A (p.Asp484Glu) c.-229C>A (n.-229C>A) | gnomAD v4 COSMIC COSMIC |
| X | g.108595522C= | CA2450687733 | COL4A5 | c.1437C= (p.Asp479=) n.893C= c.1113C= (p.Asp371=) c.1452C= (p.Asp484=) c.-229C= (n.-229C=) | |
| X | g.108595522C>G | CA413935475 | COL4A5 | c.1437C>G (p.Asp479Glu) n.893C>G c.1113C>G (p.Asp371Glu) c.1452C>G (p.Asp484Glu) c.-229C>G (n.-229C>G) | |
| X | g.108595522C>T | CA517992338 | COL4A5 | c.1437C>T (p.Asp479=) n.893C>T c.1113C>T (p.Asp371=) c.1452C>T (p.Asp484=) c.-229C>T (n.-229C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108595523A>C | CA413935478 | COL4A5 | c.1438A>C (p.Thr480Pro) n.894A>C c.1114A>C (p.Thr372Pro) c.1453A>C (p.Thr485Pro) c.-228A>C (n.-228A>C) | |
| X | g.108595523A>G | CA413935480 | COL4A5 | c.1438A>G (p.Thr480Ala) n.894A>G c.1114A>G (p.Thr372Ala) c.1453A>G (p.Thr485Ala) c.-228A>G (n.-228A>G) | |
| X | g.108595523A>T | CA413935482 | COL4A5 | c.1438A>T (p.Thr480Ser) n.894A>T c.1114A>T (p.Thr372Ser) c.1453A>T (p.Thr485Ser) c.-228A>T (n.-228A>T) | |
| X | g.108595524C>A | CA413935485 | COL4A5 | c.1439C>A (p.Thr480Asn) n.895C>A c.1115C>A (p.Thr372Asn) c.1454C>A (p.Thr485Asn) c.-227C>A (n.-227C>A) | |
| X | g.108595524C>G | CA413935490 | COL4A5 | c.1439C>G (p.Thr480Ser) n.895C>G c.1115C>G (p.Thr372Ser) c.1454C>G (p.Thr485Ser) c.-227C>G (n.-227C>G) | |
| X | g.108595524C>T | CA413935496 | COL4A5 | c.1439C>T (p.Thr480Ile) n.895C>T c.1115C>T (p.Thr372Ile) c.1454C>T (p.Thr485Ile) c.-227C>T (n.-227C>T) | |
| X | g.108595525T>A | CA517992339 | COL4A5 | c.1440T>A (p.Thr480=) n.896T>A c.1116T>A (p.Thr372=) c.1455T>A (p.Thr485=) c.-226T>A (n.-226T>A) | |
| X | g.108595525T>C | CA517992340 | COL4A5 | c.1440T>C (p.Thr480=) n.896T>C c.1116T>C (p.Thr372=) c.1455T>C (p.Thr485=) c.-226T>C (n.-226T>C) | |
| X | g.108595525T>G | CA517992341 | COL4A5 | c.1440T>G (p.Thr480=) n.896T>G c.1116T>G (p.Thr372=) c.1455T>G (p.Thr485=) c.-226T>G (n.-226T>G) | |
| X | g.108595526dup | CA2739290534 | COL4A5 | c.1441dup (p.Cys481LeufsTer?) n.897dup c.1117dup (p.Cys373LeufsTer?) c.1456dup (p.Cys486LeufsTer?) c.-225dup (n.-225dup) | |
| X | g.108595525_108595526insG | CA2695235614 | COL4A5 | c.1440_1441insG (p.Cys481ValfsTer?) n.896_897insG c.1116_1117insG (p.Cys373ValfsTer?) c.1455_1456insG (p.Cys486ValfsTer?) c.-226_-225insG (n.-226_-225insG) | |
| X | g.108595525_108595526insGG | CA2531946537 | COL4A5 | c.1440_1441insGG (p.Cys481GlyfsTer?) n.896_897insGG c.1116_1117insGG (p.Cys373GlyfsTer?) c.1455_1456insGG (p.Cys486GlyfsTer?) c.-226_-225insGG (n.-226_-225insGG) | |
| X | g.108595525_108595526insGGCGCAGCCGGCGC | CA2507055095 | COL4A5 | c.1440_1441insGGCGCAGCCGGCGC (p.Cys481GlyfsTer?) n.896_897insGGCGCAGCCGGCGC c.1116_1117insGGCGCAGCCGGCGC (p.Cys373GlyfsTer?) c.1455_1456insGGCGCAGCCGGCGC (p.Cys486GlyfsTer?) c.-226_-225insGGCGCAGCCGGCGC (n.-226_-225insGGCGCAGCCGGCGC) | |
| X | g.108595525_108595526insGGCGCAGCCGGCGCTAAAGGCGACAAAGGCGACAAAGGCGATAAAGG | CA2565266874 | COL4A5 | c.1440_1441insGGCGCAGCCGGCGCTAAAGGCGACAAAGGCGACAAAGGCGATAAAGG (p.Cys481GlyfsTer?) n.896_897insGGCGCAGCCGGCGCTAAAGGCGACAAAGGCGACAAAGGCGATAAAGG c.1116_1117insGGCGCAGCCGGCGCTAAAGGCGACAAAGGCGACAAAGGCGATAAAGG (p.Cys373GlyfsTer?) c.1455_1456insGGCGCAGCCGGCGCTAAAGGCGACAAAGGCGACAAAGGCGATAAAGG (p.Cys486GlyfsTer?) c.-226_-225insGGCGCAGCCGGCGCTAAAGGCGACAAAGGCGACAAAGGCGATAAAGG (n.-226_-225insGGCGCAGCCGGCGCTAAAGGCGACAAAGGCGACAAAGGCGATAAAGG) | |
| X | g.108595525_108595526insGGTGCAGCTGGCGCTAAAGGCGACAAAGGTGACACTGGTGCAGCCGGCGCTAAAGGCGACAAAGGCGATAAAGGTGACACTGGTGAAAAAGGTGGCAGCATCACAGGTGAAGTTGTAGATAATGGTGACGG | CA2562522894 | COL4A5 | c.1440_1441insGGTGCAGCTGGCGCTAAAGGCGACAAAGGTGACACTGGTGCAGCCGGCGCTAAAGGCGACAAAGGCGATAAAGGTGACACTGGTGAAAAAGGTGGCAGCATCACAGGTGAAGTTGTAGATAATGGTGACGG (p.Cys481GlyfsTer?) n.896_897insGGTGCAGCTGGCGCTAAAGGCGACAAAGGTGACACTGGTGCAGCCGGCGCTAAAGGCGACAAAGGCGATAAAGGTGACACTGGTGAAAAAGGTGGCAGCATCACAGGTGAAGTTGTAGATAATGGTGACGG c.1116_1117insGGTGCAGCTGGCGCTAAAGGCGACAAAGGTGACACTGGTGCAGCCGGCGCTAAAGGCGACAAAGGCGATAAAGGTGACACTGGTGAAAAAGGTGGCAGCATCACAGGTGAAGTTGTAGATAATGGTGACGG (p.Cys373GlyfsTer?) c.1455_1456insGGTGCAGCTGGCGCTAAAGGCGACAAAGGTGACACTGGTGCAGCCGGCGCTAAAGGCGACAAAGGCGATAAAGGTGACACTGGTGAAAAAGGTGGCAGCATCACAGGTGAAGTTGTAGATAATGGTGACGG (p.Cys486GlyfsTer?) c.-226_-225insGGTGCAGCTGGCGCTAAAGGCGACAAAGGTGACACTGGTGCAGCCGGCGCTAAAGGCGACAAAGGCGATAAAGGTGACACTGGTGAAAAAGGTGGCAGCATCACAGGTGAAGTTGTAGATAATGGTGACGG (n.-226_-225insGGTGCAGCTGGCGCTAAAGGCGACAAAGGTGACACTGGTGCAGCCGGCGCTAAAGGCGACAAAGGCGATAAAGGTGACACTGGTGAAAAAGGTGGCAGCATCACAGGTGAAGTTGTAGATAATGGTGACGG) | |
| X | g.108595526T>A | CA413935510 | COL4A5 | c.1441T>A (p.Cys481Ser) n.897T>A c.1117T>A (p.Cys373Ser) c.1456T>A (p.Cys486Ser) c.-225T>A (n.-225T>A) |