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.197142401dup | CA2747241269 | ASPM | c.1856dup (p.Asn619LysfsTer11) n.2073dup c.561+1295dup (n.561+1295dup) | |
| 1 | g.197142399T>A | CA344013142 | ASPM | c.1853A>T (p.Lys618Ile) n.2070A>T c.561+1292A>T (n.561+1292A>T) | |
| 1 | g.197142399T>C | CA344013144 | ASPM | c.1853A>G (p.Lys618Arg) n.2070A>G c.561+1292A>G (n.561+1292A>G) | |
| 1 | g.197142399T>G | CA344013146 | ASPM | c.1853A>C (p.Lys618Thr) n.2070A>C c.561+1292A>C (n.561+1292A>C) | |
| 1 | g.197142402_197142405del | CA2586967850 | ASPM | c.1850_1853del (p.Thr617LysfsTer3) n.2067_2070del c.561+1289_561+1292del (n.561+1289_561+1292del) | |
| 1 | g.197142400T>A | CA344013151 | ASPM | c.1852A>T (p.Lys618Ter) n.2069A>T c.561+1291A>T (n.561+1291A>T) | |
| 1 | g.197142400T>C | CA344013149 | ASPM | c.1852A>G (p.Lys618Glu) n.2069A>G c.561+1291A>G (n.561+1291A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197142400T>G | CA344013148 | ASPM | c.1852A>C (p.Lys618Gln) n.2069A>C c.561+1291A>C (n.561+1291A>C) | |
| 1 | g.197142400T= | CA1217946597 | ASPM | c.1852A= (p.Lys618=) n.2069A= c.561+1291A= (n.561+1291A=) | |
| 1 | g.197142402_197142404del | CA2574105279 | ASPM | c.1850_1852del (p.Thr617del) n.2067_2069del c.561+1289_561+1291del (n.561+1289_561+1291del) | |
| 1 | g.197142401T>A | CA422677136 | ASPM | c.1851A>T (p.Thr617=) n.2068A>T c.561+1290A>T (n.561+1290A>T) | COSMIC |
| 1 | g.197142401T>C | CA422677137 | ASPM | c.1851A>G (p.Thr617=) n.2068A>G c.561+1290A>G (n.561+1290A>G) | gnomAD v4 |
| 1 | g.197142401T>G | CA422677138 | ASPM | c.1851A>C (p.Thr617=) n.2068A>C c.561+1290A>C (n.561+1290A>C) | |
| 1 | g.197142401_197142402delinsTG | CA1217946599 | ASPM | c.1850_1851delinsCA (p.Thr617=) n.2067_2068delinsCA c.561+1289_561+1290delinsCA (n.561+1289_561+1290delinsCA) | |
| 1 | g.197142402del | CA1217946602 | ASPM | c.1850del (p.Thr617LysfsTer4) n.2067del c.561+1289del (n.561+1289del) | dbSNP |
| 1 | g.197142402G>A | CA344013159 | ASPM | c.1850C>T (p.Thr617Ile) n.2067C>T c.561+1289C>T (n.561+1289C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197142402G>C | CA344013154 | ASPM | c.1850C>G (p.Thr617Arg) n.2067C>G c.561+1289C>G (n.561+1289C>G) | |
| 1 | g.197142402G= | CA1217946600 | ASPM | c.1850C= (p.Thr617=) n.2067C= c.561+1289C= (n.561+1289C=) | |
| 1 | g.197142402G>T | CA344013157 | ASPM | c.1850C>A (p.Thr617Lys) n.2067C>A c.561+1289C>A (n.561+1289C>A) | gnomAD v4 |
| 1 | g.197142403T>A | CA344013161 | ASPM | c.1849A>T (p.Thr617Ser) n.2066A>T c.561+1288A>T (n.561+1288A>T) | ClinVar dbSNP |
| 1 | g.197142403T>C | CA344013164 | ASPM | c.1849A>G (p.Thr617Ala) n.2066A>G c.561+1288A>G (n.561+1288A>G) | |
| 1 | g.197142403T>G | CA344013166 | ASPM | c.1849A>C (p.Thr617Pro) n.2066A>C c.561+1288A>C (n.561+1288A>C) | |
| 1 | g.197142403T= | CA1217946603 | ASPM | c.1849A= (p.Thr617=) n.2066A= c.561+1288A= (n.561+1288A=) | |
| 1 | g.197142404T>A | CA344013169 | ASPM | c.1848A>T (p.Lys616Asn) n.2065A>T c.561+1287A>T (n.561+1287A>T) | |
| 1 | g.197142404T>C | CA422677139 | ASPM | c.1848A>G (p.Lys616=) n.2065A>G c.561+1287A>G (n.561+1287A>G) | |
| 1 | g.197142404T>G | CA344013171 | ASPM | c.1848A>C (p.Lys616Asn) n.2065A>C c.561+1287A>C (n.561+1287A>C) | |
| 1 | g.197142404_197142407delinsTTTC | CA1217946605 | ASPM | c.1845_1848delinsGAAA (p.Lys615=) n.2062_2065delinsGAAA c.561+1284_561+1287delinsGAAA (n.561+1284_561+1287delinsGAAA) | |
| 1 | g.197142405T>A | CA344013174 | ASPM | c.1847A>T (p.Lys616Ile) n.2064A>T c.561+1286A>T (n.561+1286A>T) | |
| 1 | g.197142405T>C | CA344013175 | ASPM | c.1847A>G (p.Lys616Arg) n.2064A>G c.561+1286A>G (n.561+1286A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197142405T>G | CA1310638 | ASPM | c.1847A>C (p.Lys616Thr) n.2064A>C c.561+1286A>C (n.561+1286A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197142405T= | CA1217946609 | ASPM | c.1847A= (p.Lys616=) n.2064A= c.561+1286A= (n.561+1286A=) | |
| 1 | g.197142407_197142409del | CA1310637 | ASPM | c.1845_1847del (p.Lys616del) n.2062_2064del c.561+1284_561+1286del (n.561+1284_561+1286del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197142406T>A | CA344013181 | ASPM | c.1846A>T (p.Lys616Ter) n.2063A>T c.561+1285A>T (n.561+1285A>T) | |
| 1 | g.197142406T>C | CA344013183 | ASPM | c.1846A>G (p.Lys616Glu) n.2063A>G c.561+1285A>G (n.561+1285A>G) | |
| 1 | g.197142406T>G | CA344013186 | ASPM | c.1846A>C (p.Lys616Gln) n.2063A>C c.561+1285A>C (n.561+1285A>C) | |
| 1 | g.197142407C>A | CA344013189 | ASPM | c.1845G>T (p.Lys615Asn) n.2062G>T c.561+1284G>T (n.561+1284G>T) | dbSNP COSMIC |
| 1 | g.197142407C= | CA1217946611 | ASPM | c.1845G= (p.Lys615=) n.2062G= c.561+1284G= (n.561+1284G=) | |
| 1 | g.197142407C>G | CA344013190 | ASPM | c.1845G>C (p.Lys615Asn) n.2062G>C c.561+1284G>C (n.561+1284G>C) | |
| 1 | g.197142407C>T | CA422677140 | ASPM | c.1845G>A (p.Lys615=) n.2062G>A c.561+1284G>A (n.561+1284G>A) | |
| 1 | g.197142408T>A | CA344013194 | ASPM | c.1844A>T (p.Lys615Met) n.2061A>T c.561+1283A>T (n.561+1283A>T) | |
| 1 | g.197142408T>C | CA344013195 | ASPM | c.1844A>G (p.Lys615Arg) n.2061A>G c.561+1283A>G (n.561+1283A>G) | |
| 1 | g.197142408T>G | CA344013198 | ASPM | c.1844A>C (p.Lys615Thr) n.2061A>C c.561+1283A>C (n.561+1283A>C) | |
| 1 | g.197142409T>A | CA344013200 | ASPM | c.1843A>T (p.Lys615Ter) n.2060A>T c.561+1282A>T (n.561+1282A>T) | |
| 1 | g.197142409T>C | CA1310639 | ASPM | c.1843A>G (p.Lys615Glu) n.2060A>G c.561+1282A>G (n.561+1282A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197142409T>G | CA344013204 | ASPM | c.1843A>C (p.Lys615Gln) n.2060A>C c.561+1282A>C (n.561+1282A>C) | gnomAD v4 |
| 1 | g.197142409T= | CA1217946613 | ASPM | c.1843A= (p.Lys615=) n.2060A= c.561+1282A= (n.561+1282A=) | |
| 1 | g.197142410A>C | CA422677141 | ASPM | c.1842T>G (p.Val614=) n.2059T>G c.561+1281T>G (n.561+1281T>G) | |
| 1 | g.197142410A>G | CA422677143 | ASPM | c.1842T>C (p.Val614=) n.2059T>C c.561+1281T>C (n.561+1281T>C) | gnomAD v4 |
| 1 | g.197142410A>T | CA422677142 | ASPM | c.1842T>A (p.Val614=) n.2059T>A c.561+1281T>A (n.561+1281T>A) | |
| 1 | g.197142411A= | CA1217946615 | ASPM | c.1841T= (p.Val614=) n.2058T= c.561+1280T= (n.561+1280T=) |