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 |
|---|---|---|---|---|---|
| 19 | g.13303536_13307864del | CA1139666331 | CACNA1A | c.1914-10_2172+10del c.1920-10_2178+10del c.1917-10_2175+10del c.1917-10_2184+1del c.1776-10_2034+10del c.2112-10_2370+10del | ClinVar |
| 19 | g.13303830_13303832delinsCCT | CA2323828082 | CACNA1A | c.2039_2041delinsAGG (p.Gln680=) c.2045_2047delinsAGG (p.Gln682=) c.2042_2044delinsAGG (p.Gln681=) c.1901_1903delinsAGG (p.Gln634=) c.2237_2239delinsAGG (p.Gln746=) | |
| 19 | g.13303831_13303832del | CA16620794 | CACNA1A | c.2039_2040del (p.Gln680ArgfsTer?) c.2045_2046del (p.Gln682ArgfsTer?) c.2042_2043del (p.Gln681ArgfsTer?) c.1901_1902del (p.Gln634ArgfsTer?) c.2237_2238del (p.Gln746ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13303831_13303832delinsCT | CA2323828084 | CACNA1A | c.2039_2040delinsAG (p.Gln680=) c.2045_2046delinsAG (p.Gln682=) c.2042_2043delinsAG (p.Gln681=) c.1901_1902delinsAG (p.Gln634=) c.2237_2238delinsAG (p.Gln746=) | |
| 19 | g.13303832del | CA658658789 | CACNA1A | c.2039del (p.Gln680ArgfsTer17) c.2045del (p.Gln682ArgfsTer17) c.2042del (p.Gln681ArgfsTer17) c.1901del (p.Gln634ArgfsTer17) c.2237del (p.Gln746ArgfsTer17) | ClinVar dbSNP |
| 19 | g.13303832T>A | CA404344395 | CACNA1A | c.2039A>T (p.Gln680Leu) c.2045A>T (p.Gln682Leu) c.2042A>T (p.Gln681Leu) c.1901A>T (p.Gln634Leu) c.2237A>T (p.Gln746Leu) | |
| 19 | g.13303832T>C | CA9240647 | CACNA1A | c.2039A>G (p.Gln680Arg) c.2045A>G (p.Gln682Arg) c.2042A>G (p.Gln681Arg) c.1901A>G (p.Gln634Arg) c.2237A>G (p.Gln746Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13303832T>G | CA404344396 | CACNA1A | c.2039A>C (p.Gln680Pro) c.2045A>C (p.Gln682Pro) c.2042A>C (p.Gln681Pro) c.1901A>C (p.Gln634Pro) c.2237A>C (p.Gln746Pro) | gnomAD v4 |
| 19 | g.13303832T= | CA2323828085 | CACNA1A | c.2039A= (p.Gln680=) c.2045A= (p.Gln682=) c.2042A= (p.Gln681=) c.1901A= (p.Gln634=) c.2237A= (p.Gln746=) | |
| 19 | g.13303833G>A | CA404344397 | CACNA1A | c.2038C>T (p.Gln680Ter) c.2044C>T (p.Gln682Ter) c.2041C>T (p.Gln681Ter) c.1900C>T (p.Gln634Ter) c.2236C>T (p.Gln746Ter) | |
| 19 | g.13303833G>C | CA404344398 | CACNA1A | c.2038C>G (p.Gln680Glu) c.2044C>G (p.Gln682Glu) c.2041C>G (p.Gln681Glu) c.1900C>G (p.Gln634Glu) c.2236C>G (p.Gln746Glu) | |
| 19 | g.13303833G>T | CA404344399 | CACNA1A | c.2038C>A (p.Gln680Lys) c.2044C>A (p.Gln682Lys) c.2041C>A (p.Gln681Lys) c.1900C>A (p.Gln634Lys) c.2236C>A (p.Gln746Lys) | |
| 19 | g.13303834A= | CA2323828086 | CACNA1A | c.2037T= (p.Ser679=) c.2043T= (p.Ser681=) c.2040T= (p.Ser680=) c.1899T= (p.Ser633=) c.2235T= (p.Ser745=) | |
| 19 | g.13303834A>C | CA505661034 | CACNA1A | c.2037T>G (p.Ser679=) c.2043T>G (p.Ser681=) c.2040T>G (p.Ser680=) c.1899T>G (p.Ser633=) c.2235T>G (p.Ser745=) | gnomAD v4 |
| 19 | g.13303834A>G | CA505661035 | CACNA1A | c.2037T>C (p.Ser679=) c.2043T>C (p.Ser681=) c.2040T>C (p.Ser680=) c.1899T>C (p.Ser633=) c.2235T>C (p.Ser745=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13303834A>T | CA505661036 | CACNA1A | c.2037T>A (p.Ser679=) c.2043T>A (p.Ser681=) c.2040T>A (p.Ser680=) c.1899T>A (p.Ser633=) c.2235T>A (p.Ser745=) | |
| 19 | g.13303835G>A | CA404344400 | CACNA1A | c.2036C>T (p.Ser679Phe) c.2042C>T (p.Ser681Phe) c.2039C>T (p.Ser680Phe) c.1898C>T (p.Ser633Phe) c.2234C>T (p.Ser745Phe) | |
| 19 | g.13303835G>C | CA404344401 | CACNA1A | c.2036C>G (p.Ser679Cys) c.2042C>G (p.Ser681Cys) c.2039C>G (p.Ser680Cys) c.1898C>G (p.Ser633Cys) c.2234C>G (p.Ser745Cys) | |
| 19 | g.13303835G>T | CA404344402 | CACNA1A | c.2036C>A (p.Ser679Tyr) c.2042C>A (p.Ser681Tyr) c.2039C>A (p.Ser680Tyr) c.1898C>A (p.Ser633Tyr) c.2234C>A (p.Ser745Tyr) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13303836A>C | CA404344403 | CACNA1A | c.2035T>G (p.Ser679Ala) c.2041T>G (p.Ser681Ala) c.2038T>G (p.Ser680Ala) c.1897T>G (p.Ser633Ala) c.2233T>G (p.Ser745Ala) | |
| 19 | g.13303836A>G | CA404344404 | CACNA1A | c.2035T>C (p.Ser679Pro) c.2041T>C (p.Ser681Pro) c.2038T>C (p.Ser680Pro) c.1897T>C (p.Ser633Pro) c.2233T>C (p.Ser745Pro) | |
| 19 | g.13303836A>T | CA404344405 | CACNA1A | c.2035T>A (p.Ser679Thr) c.2041T>A (p.Ser681Thr) c.2038T>A (p.Ser680Thr) c.1897T>A (p.Ser633Thr) c.2233T>A (p.Ser745Thr) | |
| 19 | g.13303837C>A | CA404344406 | CACNA1A | c.2034G>T (p.Lys678Asn) c.2040G>T (p.Lys680Asn) c.2037G>T (p.Lys679Asn) c.1896G>T (p.Lys632Asn) c.2232G>T (p.Lys744Asn) | |
| 19 | g.13303837C>G | CA404344407 | CACNA1A | c.2034G>C (p.Lys678Asn) c.2040G>C (p.Lys680Asn) c.2037G>C (p.Lys679Asn) c.1896G>C (p.Lys632Asn) c.2232G>C (p.Lys744Asn) | |
| 19 | g.13303837C>T | CA505661038 | CACNA1A | c.2034G>A (p.Lys678=) c.2040G>A (p.Lys680=) c.2037G>A (p.Lys679=) c.1896G>A (p.Lys632=) c.2232G>A (p.Lys744=) | |
| 19 | g.13303837_13303854del | CA2573156128 | CACNA1A | c.2017_2034del (p.Met673_Lys678del) c.2023_2040del (p.Met675_Lys680del) c.2020_2037del (p.Met674_Lys679del) c.1879_1896del (p.Met627_Lys632del) c.2215_2232del (p.Met739_Lys744del) | ClinVar dbSNP |
| 19 | g.13303838T>A | CA404344408 | CACNA1A | c.2033A>T (p.Lys678Met) c.2039A>T (p.Lys680Met) c.2036A>T (p.Lys679Met) c.1895A>T (p.Lys632Met) c.2231A>T (p.Lys744Met) | |
| 19 | g.13303838T>C | CA404344409 | CACNA1A | c.2033A>G (p.Lys678Arg) c.2039A>G (p.Lys680Arg) c.2036A>G (p.Lys679Arg) c.1895A>G (p.Lys632Arg) c.2231A>G (p.Lys744Arg) | |
| 19 | g.13303838T>G | CA404344410 | CACNA1A | c.2033A>C (p.Lys678Thr) c.2039A>C (p.Lys680Thr) c.2036A>C (p.Lys679Thr) c.1895A>C (p.Lys632Thr) c.2231A>C (p.Lys744Thr) | |
| 19 | g.13303839T>A | CA404344411 | CACNA1A | c.2032A>T (p.Lys678Ter) c.2038A>T (p.Lys680Ter) c.2035A>T (p.Lys679Ter) c.1894A>T (p.Lys632Ter) c.2230A>T (p.Lys744Ter) | |
| 19 | g.13303839T>C | CA404344412 | CACNA1A | c.2032A>G (p.Lys678Glu) c.2038A>G (p.Lys680Glu) c.2035A>G (p.Lys679Glu) c.1894A>G (p.Lys632Glu) c.2230A>G (p.Lys744Glu) | |
| 19 | g.13303839T>G | CA404344413 | CACNA1A | c.2032A>C (p.Lys678Gln) c.2038A>C (p.Lys680Gln) c.2035A>C (p.Lys679Gln) c.1894A>C (p.Lys632Gln) c.2230A>C (p.Lys744Gln) | |
| 19 | g.13303840G>A | CA505661042 | CACNA1A | c.2031C>T (p.Ile677=) c.2037C>T (p.Ile679=) c.2034C>T (p.Ile678=) c.1893C>T (p.Ile631=) c.2229C>T (p.Ile743=) | |
| 19 | g.13303840G>C | CA404344414 | CACNA1A | c.2031C>G (p.Ile677Met) c.2037C>G (p.Ile679Met) c.2034C>G (p.Ile678Met) c.1893C>G (p.Ile631Met) c.2229C>G (p.Ile743Met) | |
| 19 | g.13303840G>T | CA505661043 | CACNA1A | c.2031C>A (p.Ile677=) c.2037C>A (p.Ile679=) c.2034C>A (p.Ile678=) c.1893C>A (p.Ile631=) c.2229C>A (p.Ile743=) | |
| 19 | g.13303841A>C | CA404344415 | CACNA1A | c.2030T>G (p.Ile677Ser) c.2036T>G (p.Ile679Ser) c.2033T>G (p.Ile678Ser) c.1892T>G (p.Ile631Ser) c.2228T>G (p.Ile743Ser) | |
| 19 | g.13303841A>G | CA404344416 | CACNA1A | c.2030T>C (p.Ile677Thr) c.2036T>C (p.Ile679Thr) c.2033T>C (p.Ile678Thr) c.1892T>C (p.Ile631Thr) c.2228T>C (p.Ile743Thr) | |
| 19 | g.13303841A>T | CA404344417 | CACNA1A | c.2030T>A (p.Ile677Asn) c.2036T>A (p.Ile679Asn) c.2033T>A (p.Ile678Asn) c.1892T>A (p.Ile631Asn) c.2228T>A (p.Ile743Asn) | |
| 19 | g.13303842T>A | CA404344418 | CACNA1A | c.2029A>T (p.Ile677Phe) c.2035A>T (p.Ile679Phe) c.2032A>T (p.Ile678Phe) c.1891A>T (p.Ile631Phe) c.2227A>T (p.Ile743Phe) | |
| 19 | g.13303842T>C | CA404344419 | CACNA1A | c.2029A>G (p.Ile677Val) c.2035A>G (p.Ile679Val) c.2032A>G (p.Ile678Val) c.1891A>G (p.Ile631Val) c.2227A>G (p.Ile743Val) | |
| 19 | g.13303842T>G | CA404344420 | CACNA1A | c.2029A>C (p.Ile677Leu) c.2035A>C (p.Ile679Leu) c.2032A>C (p.Ile678Leu) c.1891A>C (p.Ile631Leu) c.2227A>C (p.Ile743Leu) | |
| 19 | g.13303843C>A | CA505661045 | CACNA1A | c.2028G>T (p.Gly676=) c.2034G>T (p.Gly678=) c.2031G>T (p.Gly677=) c.1890G>T (p.Gly630=) c.2226G>T (p.Gly742=) | |
| 19 | g.13303843C= | CA2323828087 | CACNA1A | c.2028G= (p.Gly676=) c.2034G= (p.Gly678=) c.2031G= (p.Gly677=) c.1890G= (p.Gly630=) c.2226G= (p.Gly742=) | |
| 19 | g.13303843C>G | CA505661046 | CACNA1A | c.2028G>C (p.Gly676=) c.2034G>C (p.Gly678=) c.2031G>C (p.Gly677=) c.1890G>C (p.Gly630=) c.2226G>C (p.Gly742=) | gnomAD v4 |
| 19 | g.13303843C>T | CA9240648 | CACNA1A | c.2028G>A (p.Gly676=) c.2034G>A (p.Gly678=) c.2031G>A (p.Gly677=) c.1890G>A (p.Gly630=) c.2226G>A (p.Gly742=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13303844C>A | CA404344422 | CACNA1A | c.2027G>T (p.Gly676Val) c.2033G>T (p.Gly678Val) c.2030G>T (p.Gly677Val) c.1889G>T (p.Gly630Val) c.2225G>T (p.Gly742Val) | |
| 19 | g.13303844C= | CA2323828088 | CACNA1A | c.2027G= (p.Gly676=) c.2033G= (p.Gly678=) c.2030G= (p.Gly677=) c.1889G= (p.Gly630=) c.2225G= (p.Gly742=) | |
| 19 | g.13303844C>G | CA404344421 | CACNA1A | c.2027G>C (p.Gly676Ala) c.2033G>C (p.Gly678Ala) c.2030G>C (p.Gly677Ala) c.1889G>C (p.Gly630Ala) c.2225G>C (p.Gly742Ala) | |
| 19 | g.13303844C>T | CA305508592 | CACNA1A | c.2027G>A (p.Gly676Glu) c.2033G>A (p.Gly678Glu) c.2030G>A (p.Gly677Glu) c.1889G>A (p.Gly630Glu) c.2225G>A (p.Gly742Glu) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13303845C>A | CA404344423 | CACNA1A | c.2026G>T (p.Gly676Trp) c.2032G>T (p.Gly678Trp) c.2029G>T (p.Gly677Trp) c.1888G>T (p.Gly630Trp) c.2224G>T (p.Gly742Trp) | dbSNP |