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.108591180_108591197dup | CA2694411164 | COL4A5 | c.1288_1305dup (p.Gly435_Pro436insAlaProGlyLeuProGly) n.744_761dup c.964_981dup (p.Gly327_Pro328insAlaProGlyLeuProGly) c.1303_1320dup (p.Gly440_Pro441insAlaProGlyLeuProGly) c.-422_-405dup (n.-422_-405dup) | gnomAD v4 |
| X | g.108591187G>A | CA413933040 | COL4A5 | c.1295G>A (p.Gly432Glu) n.751G>A c.971G>A (p.Gly324Glu) c.1310G>A (p.Gly437Glu) c.-415G>A (n.-415G>A) | ClinVar dbSNP |
| X | g.108591187G>C | CA413933035 | COL4A5 | c.1295G>C (p.Gly432Ala) n.751G>C c.971G>C (p.Gly324Ala) c.1310G>C (p.Gly437Ala) c.-415G>C (n.-415G>C) | |
| X | g.108591187G= | CA2450686438 | COL4A5 | c.1295G= (p.Gly432=) n.751G= c.971G= (p.Gly324=) c.1310G= (p.Gly437=) c.-415G= (n.-415G=) | |
| X | g.108591187G>T | CA413933032 | COL4A5 | c.1295G>T (p.Gly432Val) n.751G>T c.971G>T (p.Gly324Val) c.1310G>T (p.Gly437Val) c.-415G>T (n.-415G>T) | |
| X | g.108591188G>A | CA517992231 | COL4A5 | c.1296G>A (p.Gly432=) n.752G>A c.972G>A (p.Gly324=) c.1311G>A (p.Gly437=) c.-414G>A (n.-414G>A) | |
| X | g.108591188G>C | CA10488706 | COL4A5 | c.1296G>C (p.Gly432=) n.752G>C c.972G>C (p.Gly324=) c.1311G>C (p.Gly437=) c.-414G>C (n.-414G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108591188G= | CA2450686439 | COL4A5 | c.1296G= (p.Gly432=) n.752G= c.972G= (p.Gly324=) c.1311G= (p.Gly437=) c.-414G= (n.-414G=) | |
| X | g.108591188G>T | CA517992232 | COL4A5 | c.1296G>T (p.Gly432=) n.752G>T c.972G>T (p.Gly324=) c.1311G>T (p.Gly437=) c.-414G>T (n.-414G>T) | |
| X | g.108591189C>A | CA413933056 | COL4A5 | c.1297C>A (p.Leu433Ile) n.753C>A c.973C>A (p.Leu325Ile) c.1312C>A (p.Leu438Ile) c.-413C>A (n.-413C>A) | |
| X | g.108591189C>G | CA413933059 | COL4A5 | c.1297C>G (p.Leu433Val) n.753C>G c.973C>G (p.Leu325Val) c.1312C>G (p.Leu438Val) c.-413C>G (n.-413C>G) | |
| X | g.108591189C>T | CA413933063 | COL4A5 | c.1297C>T (p.Leu433Phe) n.753C>T c.973C>T (p.Leu325Phe) c.1312C>T (p.Leu438Phe) c.-413C>T (n.-413C>T) | |
| X | g.108591190T>A | CA413933066 | COL4A5 | c.1298T>A (p.Leu433His) n.754T>A c.974T>A (p.Leu325His) c.1313T>A (p.Leu438His) c.-412T>A (n.-412T>A) | |
| X | g.108591190T>C | CA413933070 | COL4A5 | c.1298T>C (p.Leu433Pro) n.754T>C c.974T>C (p.Leu325Pro) c.1313T>C (p.Leu438Pro) c.-412T>C (n.-412T>C) | |
| X | g.108591190T>G | CA413933071 | COL4A5 | c.1298T>G (p.Leu433Arg) n.754T>G c.974T>G (p.Leu325Arg) c.1313T>G (p.Leu438Arg) c.-412T>G (n.-412T>G) | |
| X | g.108591191T>A | CA517992233 | COL4A5 | c.1299T>A (p.Leu433=) n.755T>A c.975T>A (p.Leu325=) c.1314T>A (p.Leu438=) c.-411T>A (n.-411T>A) | |
| X | g.108591191T>C | CA517992234 | COL4A5 | c.1299T>C (p.Leu433=) n.755T>C c.975T>C (p.Leu325=) c.1314T>C (p.Leu438=) c.-411T>C (n.-411T>C) | |
| X | g.108591191T>G | CA517992235 | COL4A5 | c.1299T>G (p.Leu433=) n.755T>G c.975T>G (p.Leu325=) c.1314T>G (p.Leu438=) c.-411T>G (n.-411T>G) | |
| X | g.108591192C>A | CA413933073 | COL4A5 | c.1300C>A (p.Pro434Thr) n.756C>A c.976C>A (p.Pro326Thr) c.1315C>A (p.Pro439Thr) c.-410C>A (n.-410C>A) | gnomAD v4 |
| X | g.108591192C>G | CA413933075 | COL4A5 | c.1300C>G (p.Pro434Ala) n.756C>G c.976C>G (p.Pro326Ala) c.1315C>G (p.Pro439Ala) c.-410C>G (n.-410C>G) | |
| X | g.108591192C>T | CA413933072 | COL4A5 | c.1300C>T (p.Pro434Ser) n.756C>T c.976C>T (p.Pro326Ser) c.1315C>T (p.Pro439Ser) c.-410C>T (n.-410C>T) | |
| X | g.108591193del | CA2695235603 | COL4A5 | c.1301del (p.Pro434GlnfsTer?) n.757del c.977del (p.Pro326GlnfsTer?) c.1316del (p.Pro439GlnfsTer?) c.-409del (n.-409del) | |
| X | g.108591193C>A | CA413933079 | COL4A5 | c.1301C>A (p.Pro434Gln) n.757C>A c.977C>A (p.Pro326Gln) c.1316C>A (p.Pro439Gln) c.-409C>A (n.-409C>A) | |
| X | g.108591193C= | CA2450686440 | COL4A5 | c.1301C= (p.Pro434=) n.757C= c.977C= (p.Pro326=) c.1316C= (p.Pro439=) c.-409C= (n.-409C=) | |
| X | g.108591193C>G | CA334182255 | COL4A5 | c.1301C>G (p.Pro434Arg) n.757C>G c.977C>G (p.Pro326Arg) c.1316C>G (p.Pro439Arg) c.-409C>G (n.-409C>G) | dbSNP |
| X | g.108591193C>T | CA413933080 | COL4A5 | c.1301C>T (p.Pro434Leu) n.757C>T c.977C>T (p.Pro326Leu) c.1316C>T (p.Pro439Leu) c.-409C>T (n.-409C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108591194A= | CA2450686441 | COL4A5 | c.1302A= (p.Pro434=) n.758A= c.978A= (p.Pro326=) c.1317A= (p.Pro439=) c.-408A= (n.-408A=) | |
| X | g.108591194A>C | CA517992236 | COL4A5 | c.1302A>C (p.Pro434=) n.758A>C c.978A>C (p.Pro326=) c.1317A>C (p.Pro439=) c.-408A>C (n.-408A>C) | |
| X | g.108591194A>G | CA10488707 | COL4A5 | c.1302A>G (p.Pro434=) n.758A>G c.978A>G (p.Pro326=) c.1317A>G (p.Pro439=) c.-408A>G (n.-408A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108591194A>T | CA517992237 | COL4A5 | c.1302A>T (p.Pro434=) n.758A>T c.978A>T (p.Pro326=) c.1317A>T (p.Pro439=) c.-408A>T (n.-408A>T) | |
| X | g.108591195G>A | CA413933083 | COL4A5 | c.1303G>A (p.Gly435Arg) n.759G>A c.979G>A (p.Gly327Arg) c.1318G>A (p.Gly440Arg) c.-407G>A (n.-407G>A) | |
| X | g.108591195G>C | CA413933087 | COL4A5 | c.1303G>C (p.Gly435Arg) n.759G>C c.979G>C (p.Gly327Arg) c.1318G>C (p.Gly440Arg) c.-407G>C (n.-407G>C) | |
| X | g.108591195G>T | CA413933088 | COL4A5 | c.1303G>T (p.Gly435Trp) n.759G>T c.979G>T (p.Gly327Trp) c.1318G>T (p.Gly440Trp) c.-407G>T (n.-407G>T) | |
| X | g.108591196G>A | CA413933089 | COL4A5 | c.1304G>A (p.Gly435Glu) n.760G>A c.980G>A (p.Gly327Glu) c.1319G>A (p.Gly440Glu) c.-406G>A (n.-406G>A) | ClinVar |
| X | g.108591196G>C | CA413933090 | COL4A5 | c.1304G>C (p.Gly435Ala) n.760G>C c.980G>C (p.Gly327Ala) c.1319G>C (p.Gly440Ala) c.-406G>C (n.-406G>C) | |
| X | g.108591196G>T | CA413933091 | COL4A5 | c.1304G>T (p.Gly435Val) n.760G>T c.980G>T (p.Gly327Val) c.1319G>T (p.Gly440Val) c.-406G>T (n.-406G>T) | |
| X | g.108591196_108591197delinsTT | CA2573159094 | COL4A5 | c.1304_1305delinsTT (p.Gly435Val) n.760_761delinsTT c.980_981delinsTT (p.Gly327Val) c.1319_1320delinsTT (p.Gly440Val) c.-406_-405delinsTT (n.-406_-405delinsTT) | ClinVar dbSNP |
| X | g.108591200_108591216del | CA2695235604 | COL4A5 | c.1308_1324del (p.Pro437SerfsTer5) n.764_780del c.984_1000del (p.Pro329SerfsTer5) c.1323_1339del (p.Pro442SerfsTer5) c.-402_-386del (n.-402_-386del) | |
| X | g.108591197G>A | CA517992238 | COL4A5 | c.1305G>A (p.Gly435=) n.761G>A c.981G>A (p.Gly327=) c.1320G>A (p.Gly440=) c.-405G>A (n.-405G>A) | |
| X | g.108591197G>C | CA517992239 | COL4A5 | c.1305G>C (p.Gly435=) n.761G>C c.981G>C (p.Gly327=) c.1320G>C (p.Gly440=) c.-405G>C (n.-405G>C) | |
| X | g.108591197G>T | CA517992240 | COL4A5 | c.1305G>T (p.Gly435=) n.761G>T c.981G>T (p.Gly327=) c.1320G>T (p.Gly440=) c.-405G>T (n.-405G>T) | |
| X | g.108591198C>A | CA413933093 | COL4A5 | c.1306C>A (p.Pro436Thr) n.762C>A c.982C>A (p.Pro328Thr) c.1321C>A (p.Pro441Thr) c.-404C>A (n.-404C>A) | |
| X | g.108591198C>G | CA413933097 | COL4A5 | c.1306C>G (p.Pro436Ala) n.762C>G c.982C>G (p.Pro328Ala) c.1321C>G (p.Pro441Ala) c.-404C>G (n.-404C>G) | |
| X | g.108591198C>T | CA413933102 | COL4A5 | c.1306C>T (p.Pro436Ser) n.762C>T c.982C>T (p.Pro328Ser) c.1321C>T (p.Pro441Ser) c.-404C>T (n.-404C>T) | |
| X | g.108591199C>A | CA413933113 | COL4A5 | c.1307C>A (p.Pro436His) n.763C>A c.983C>A (p.Pro328His) c.1322C>A (p.Pro441His) c.-403C>A (n.-403C>A) | |
| X | g.108591199C>G | CA413933108 | COL4A5 | c.1307C>G (p.Pro436Arg) n.763C>G c.983C>G (p.Pro328Arg) c.1322C>G (p.Pro441Arg) c.-403C>G (n.-403C>G) | |
| X | g.108591199C>T | CA413933106 | COL4A5 | c.1307C>T (p.Pro436Leu) n.763C>T c.983C>T (p.Pro328Leu) c.1322C>T (p.Pro441Leu) c.-403C>T (n.-403C>T) | |
| X | g.108591200T>A | CA517992241 | COL4A5 | c.1308T>A (p.Pro436=) n.764T>A c.984T>A (p.Pro328=) c.1323T>A (p.Pro441=) c.-402T>A (n.-402T>A) | gnomAD v4 |
| X | g.108591200T>C | CA517992242 | COL4A5 | c.1308T>C (p.Pro436=) n.764T>C c.984T>C (p.Pro328=) c.1323T>C (p.Pro441=) c.-402T>C (n.-402T>C) | |
| X | g.108591200T>G | CA517992243 | COL4A5 | c.1308T>G (p.Pro436=) n.764T>G c.984T>G (p.Pro328=) c.1323T>G (p.Pro441=) c.-402T>G (n.-402T>G) |