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 |
|---|---|---|---|---|---|
| 1 | g.197142446G>A | CA422677168 | ASPM | c.1806C>T (p.Ile602=) n.2023C>T c.561+1245C>T (n.561+1245C>T) | |
| 1 | g.197142446G>C | CA344013349 | ASPM | c.1806C>G (p.Ile602Met) n.2023C>G c.561+1245C>G (n.561+1245C>G) | |
| 1 | g.197142446G>T | CA422677169 | ASPM | c.1806C>A (p.Ile602=) n.2023C>A c.561+1245C>A (n.561+1245C>A) | gnomAD v4 |
| 1 | g.197142447A= | CA1217945232 | ASPM | c.1805T= (p.Ile602=) n.2022T= c.561+1244T= (n.561+1244T=) | |
| 1 | g.197142447A>C | CA344013351 | ASPM | c.1805T>G (p.Ile602Ser) n.2022T>G c.561+1244T>G (n.561+1244T>G) | |
| 1 | g.197142447A>G | CA35860918 | ASPM | c.1805T>C (p.Ile602Thr) n.2022T>C c.561+1244T>C (n.561+1244T>C) | dbSNP gnomAD v4 |
| 1 | g.197142447A>T | CA344013353 | ASPM | c.1805T>A (p.Ile602Asn) n.2022T>A c.561+1244T>A (n.561+1244T>A) | |
| 1 | g.197142447_197142450delinsATTC | CA1217945233 | ASPM | c.1802_1805delinsGAAT (p.Arg601=) n.2019_2022delinsGAAT c.561+1241_561+1244delinsGAAT (n.561+1241_561+1244delinsGAAT) | |
| 1 | g.197142448T>A | CA344013355 | ASPM | c.1804A>T (p.Ile602Phe) n.2021A>T c.561+1243A>T (n.561+1243A>T) | |
| 1 | g.197142448T>C | CA344013357 | ASPM | c.1804A>G (p.Ile602Val) n.2021A>G c.561+1243A>G (n.561+1243A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197142448T>G | CA344013359 | ASPM | c.1804A>C (p.Ile602Leu) n.2021A>C c.561+1243A>C (n.561+1243A>C) | |
| 1 | g.197142448T= | CA1217945235 | ASPM | c.1804A= (p.Ile602=) n.2021A= c.561+1243A= (n.561+1243A=) | |
| 1 | g.197142450_197142452del | CA916374913 | ASPM | c.1802_1804del (p.Arg601del) n.2019_2021del c.561+1241_561+1243del (n.561+1241_561+1243del) | dbSNP gnomAD v4 |
| 1 | g.197142449T>A | CA344013360 | ASPM | c.1803A>T (p.Arg601Ser) n.2020A>T c.561+1242A>T (n.561+1242A>T) | |
| 1 | g.197142449T>C | CA422677170 | ASPM | c.1803A>G (p.Arg601=) n.2020A>G c.561+1242A>G (n.561+1242A>G) | |
| 1 | g.197142449T>G | CA344013362 | ASPM | c.1803A>C (p.Arg601Ser) n.2020A>C c.561+1242A>C (n.561+1242A>C) | |
| 1 | g.197142450C>A | CA1310649 | ASPM | c.1802G>T (p.Arg601Ile) n.2019G>T c.561+1241G>T (n.561+1241G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197142450C= | CA1217945238 | ASPM | c.1802G= (p.Arg601=) n.2019G= c.561+1241G= (n.561+1241G=) | |
| 1 | g.197142450C>G | CA344013365 | ASPM | c.1802G>C (p.Arg601Thr) n.2019G>C c.561+1241G>C (n.561+1241G>C) | |
| 1 | g.197142450C>T | CA344013366 | ASPM | c.1802G>A (p.Arg601Lys) n.2019G>A c.561+1241G>A (n.561+1241G>A) | gnomAD v4 |
| 1 | g.197142450_197142454delinsCTTTT | CA1217945241 | ASPM | c.1798_1802delinsAAAAG (p.Lys600=) n.2015_2019delinsAAAAG c.561+1237_561+1241delinsAAAAG (n.561+1237_561+1241delinsAAAAG) | |
| 1 | g.197142451T>A | CA344013369 | ASPM | c.1801A>T (p.Arg601Ter) n.2018A>T c.561+1240A>T (n.561+1240A>T) | |
| 1 | g.197142451T>C | CA344013370 | ASPM | c.1801A>G (p.Arg601Gly) n.2018A>G c.561+1240A>G (n.561+1240A>G) | |
| 1 | g.197142451T>G | CA1310650 | ASPM | c.1801A>C (p.Arg601=) n.2018A>C c.561+1240A>C (n.561+1240A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197142451T= | CA1217945245 | ASPM | c.1801A= (p.Arg601=) n.2018A= c.561+1240A= (n.561+1240A=) | |
| 1 | g.197142451_197142454del | CA645372483 | ASPM | c.1798_1801del (p.Lys600GlufsTer20) n.2015_2018del c.561+1237_561+1240del (n.561+1237_561+1240del) | ClinVar dbSNP |
| 1 | g.197142454del | CA2573131462 | ASPM | c.1801del (p.Arg601GlufsTer20) n.2018del c.561+1240del (n.561+1240del) | ClinVar dbSNP |
| 1 | g.197142452T>A | CA344013373 | ASPM | c.1800A>T (p.Lys600Asn) n.2017A>T c.561+1239A>T (n.561+1239A>T) | |
| 1 | g.197142452T>C | CA422677171 | ASPM | c.1800A>G (p.Lys600=) n.2017A>G c.561+1239A>G (n.561+1239A>G) | |
| 1 | g.197142452T>G | CA344013375 | ASPM | c.1800A>C (p.Lys600Asn) n.2017A>C c.561+1239A>C (n.561+1239A>C) | |
| 1 | g.197142453T>A | CA344013376 | ASPM | c.1799A>T (p.Lys600Ile) n.2016A>T c.561+1238A>T (n.561+1238A>T) | |
| 1 | g.197142453T>C | CA344013378 | ASPM | c.1799A>G (p.Lys600Arg) n.2016A>G c.561+1238A>G (n.561+1238A>G) | |
| 1 | g.197142453T>G | CA344013380 | ASPM | c.1799A>C (p.Lys600Thr) n.2016A>C c.561+1238A>C (n.561+1238A>C) | |
| 1 | g.197142454T>A | CA344013385 | ASPM | c.1798A>T (p.Lys600Ter) n.2015A>T c.561+1237A>T (n.561+1237A>T) | |
| 1 | g.197142454T>C | CA344013384 | ASPM | c.1798A>G (p.Lys600Glu) n.2015A>G c.561+1237A>G (n.561+1237A>G) | dbSNP |
| 1 | g.197142454T>G | CA344013382 | ASPM | c.1798A>C (p.Lys600Gln) n.2015A>C c.561+1237A>C (n.561+1237A>C) | gnomAD v4 |
| 1 | g.197142454T= | CA1217945247 | ASPM | c.1798A= (p.Lys600=) n.2015A= c.561+1237A= (n.561+1237A=) | |
| 1 | g.197142455del | CA2649664200 | ASPM | c.1797del (p.Arg601GlufsTer20) n.2014del c.561+1236del (n.561+1236del) | gnomAD v4 |
| 1 | g.197142455G>A | CA422677172 | ASPM | c.1797C>T (p.Ile599=) n.2014C>T c.561+1236C>T (n.561+1236C>T) | |
| 1 | g.197142455G>C | CA344013387 | ASPM | c.1797C>G (p.Ile599Met) n.2014C>G c.561+1236C>G (n.561+1236C>G) | |
| 1 | g.197142455G>T | CA422677173 | ASPM | c.1797C>A (p.Ile599=) n.2014C>A c.561+1236C>A (n.561+1236C>A) | gnomAD v4 |
| 1 | g.197142456A= | CA1217945248 | ASPM | c.1796T= (p.Ile599=) n.2013T= c.561+1235T= (n.561+1235T=) | |
| 1 | g.197142456A>C | CA344013388 | ASPM | c.1796T>G (p.Ile599Ser) n.2013T>G c.561+1235T>G (n.561+1235T>G) | |
| 1 | g.197142456A>G | CA344013390 | ASPM | c.1796T>C (p.Ile599Thr) n.2013T>C c.561+1235T>C (n.561+1235T>C) | |
| 1 | g.197142456A>T | CA344013392 | ASPM | c.1796T>A (p.Ile599Asn) n.2013T>A c.561+1235T>A (n.561+1235T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197142457T>A | CA344013394 | ASPM | c.1795A>T (p.Ile599Phe) n.2012A>T c.561+1234A>T (n.561+1234A>T) | |
| 1 | g.197142457T>C | CA344013395 | ASPM | c.1795A>G (p.Ile599Val) n.2012A>G c.561+1234A>G (n.561+1234A>G) | |
| 1 | g.197142457T>G | CA344013397 | ASPM | c.1795A>C (p.Ile599Leu) n.2012A>C c.561+1234A>C (n.561+1234A>C) | |
| 1 | g.197142458T>A | CA344013399 | ASPM | c.1794A>T (p.Glu598Asp) n.2011A>T c.561+1233A>T (n.561+1233A>T) | |
| 1 | g.197142458T>C | CA422677174 | ASPM | c.1794A>G (p.Glu598=) n.2011A>G c.561+1233A>G (n.561+1233A>G) |