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.85956304_85956309delinsTG | CA2695234675 | CHM | c.1010_1015delinsCA (p.Val337AlafsTer6) n.126+71182_126+71187delinsCA c.947_952delinsCA (p.Val316AlafsTer6) c.566_571delinsCA (p.Val189AlafsTer6) | |
| X | g.85956309A>C | CA413785319 | CHM | c.1010T>G (p.Val337Gly) n.126+71182T>G c.947T>G (p.Val316Gly) c.566T>G (p.Val189Gly) | |
| X | g.85956309A>G | CA413785317 | CHM | c.1010T>C (p.Val337Ala) n.126+71182T>C c.947T>C (p.Val316Ala) c.566T>C (p.Val189Ala) | COSMIC |
| X | g.85956309A>T | CA413785315 | CHM | c.1010T>A (p.Val337Asp) n.126+71182T>A c.947T>A (p.Val316Asp) c.566T>A (p.Val189Asp) | |
| X | g.85956310C>A | CA413785320 | CHM | c.1009G>T (p.Val337Phe) n.126+71181G>T c.946G>T (p.Val316Phe) c.565G>T (p.Val189Phe) | |
| X | g.85956310C= | CA2442478049 | CHM | c.1009G= (p.Val337=) n.126+71181G= c.946G= (p.Val316=) c.565G= (p.Val189=) | |
| X | g.85956310C>G | CA413785324 | CHM | c.1009G>C (p.Val337Leu) n.126+71181G>C c.946G>C (p.Val316Leu) c.565G>C (p.Val189Leu) | |
| X | g.85956310C>T | CA413785322 | CHM | c.1009G>A (p.Val337Ile) n.126+71181G>A c.946G>A (p.Val316Ile) c.565G>A (p.Val189Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.85956311A= | CA2442478050 | CHM | c.1008T= (p.Ile336=) n.126+71180T= c.945T= (p.Ile315=) c.564T= (p.Ile188=) | |
| X | g.85956311A>C | CA413785326 | CHM | c.1008T>G (p.Ile336Met) n.126+71180T>G c.945T>G (p.Ile315Met) c.564T>G (p.Ile188Met) | gnomAD v4 |
| X | g.85956311A>G | CA10465478 | CHM | c.1008T>C (p.Ile336=) n.126+71180T>C c.945T>C (p.Ile315=) c.564T>C (p.Ile188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.85956311A>T | CA517491038 | CHM | c.1008T>A (p.Ile336=) n.126+71180T>A c.945T>A (p.Ile315=) c.564T>A (p.Ile188=) | |
| X | g.85956312A>C | CA413785327 | CHM | c.1007T>G (p.Ile336Ser) n.126+71179T>G c.944T>G (p.Ile315Ser) c.563T>G (p.Ile188Ser) | |
| X | g.85956312A>G | CA413785328 | CHM | c.1007T>C (p.Ile336Thr) n.126+71179T>C c.944T>C (p.Ile315Thr) c.563T>C (p.Ile188Thr) | |
| X | g.85956312A>T | CA413785330 | CHM | c.1007T>A (p.Ile336Asn) n.126+71179T>A c.944T>A (p.Ile315Asn) c.563T>A (p.Ile188Asn) | |
| X | g.85956316_85956317del | CA2694203650 | CHM | c.1006_1007del (p.Ile336CysfsTer?) n.126+71178_126+71179del c.943_944del (p.Ile315CysfsTer?) c.562_563del (p.Ile188CysfsTer?) | gnomAD v4 |
| X | g.85956313T>A | CA413785332 | CHM | c.1006A>T (p.Ile336Phe) n.126+71178A>T c.943A>T (p.Ile315Phe) c.562A>T (p.Ile188Phe) | |
| X | g.85956313T>C | CA413785334 | CHM | c.1006A>G (p.Ile336Val) n.126+71178A>G c.943A>G (p.Ile315Val) c.562A>G (p.Ile188Val) | |
| X | g.85956313T>G | CA413785335 | CHM | c.1006A>C (p.Ile336Leu) n.126+71178A>C c.943A>C (p.Ile315Leu) c.562A>C (p.Ile188Leu) | |
| X | g.85956314A>C | CA413785337 | CHM | c.1005T>G (p.Tyr335Ter) n.126+71177T>G c.942T>G (p.Tyr314Ter) c.561T>G (p.Tyr187Ter) | |
| X | g.85956314A>G | CA517491040 | CHM | c.1005T>C (p.Tyr335=) n.126+71177T>C c.942T>C (p.Tyr314=) c.561T>C (p.Tyr187=) | |
| X | g.85956314A>T | CA413785338 | CHM | c.1005T>A (p.Tyr335Ter) n.126+71177T>A c.942T>A (p.Tyr314Ter) c.561T>A (p.Tyr187Ter) | |
| X | g.85956315T>A | CA413785340 | CHM | c.1004A>T (p.Tyr335Phe) n.126+71176A>T c.941A>T (p.Tyr314Phe) c.560A>T (p.Tyr187Phe) | |
| X | g.85956315T>C | CA413785341 | CHM | c.1004A>G (p.Tyr335Cys) n.126+71176A>G c.941A>G (p.Tyr314Cys) c.560A>G (p.Tyr187Cys) | |
| X | g.85956315T>G | CA413785343 | CHM | c.1004A>C (p.Tyr335Ser) n.126+71176A>C c.941A>C (p.Tyr314Ser) c.560A>C (p.Tyr187Ser) | |
| X | g.85956316A>C | CA413785347 | CHM | c.1003T>G (p.Tyr335Asp) n.126+71175T>G c.940T>G (p.Tyr314Asp) c.559T>G (p.Tyr187Asp) | |
| X | g.85956316A>G | CA413785345 | CHM | c.1003T>C (p.Tyr335His) n.126+71175T>C c.940T>C (p.Tyr314His) c.559T>C (p.Tyr187His) | gnomAD v4 |
| X | g.85956316A>T | CA413785346 | CHM | c.1003T>A (p.Tyr335Asn) n.126+71175T>A c.940T>A (p.Tyr314Asn) c.559T>A (p.Tyr187Asn) | |
| X | g.85956317T>A | CA413785350 | CHM | c.1002A>T (p.Gln334His) n.126+71174A>T c.939A>T (p.Gln313His) c.558A>T (p.Gln186His) | |
| X | g.85956317T>C | CA517491041 | CHM | c.1002A>G (p.Gln334=) n.126+71174A>G c.939A>G (p.Gln313=) c.558A>G (p.Gln186=) | gnomAD v4 |
| X | g.85956317T>G | CA413785351 | CHM | c.1002A>C (p.Gln334His) n.126+71174A>C c.939A>C (p.Gln313His) c.558A>C (p.Gln186His) | |
| X | g.85956317_85956318insACA | CA2822218786 | CHM | c.1001_1002insTGT (p.Gln334delinsHisVal) n.126+71173_126+71174insTGT c.938_939insTGT (p.Gln313delinsHisVal) c.557_558insTGT (p.Gln186delinsHisVal) | |
| X | g.85956318T>A | CA413785353 | CHM | c.1001A>T (p.Gln334Leu) n.126+71173A>T c.938A>T (p.Gln313Leu) c.557A>T (p.Gln186Leu) | |
| X | g.85956318T>C | CA413785354 | CHM | c.1001A>G (p.Gln334Arg) n.126+71173A>G c.938A>G (p.Gln313Arg) c.557A>G (p.Gln186Arg) | |
| X | g.85956318T>G | CA413785356 | CHM | c.1001A>C (p.Gln334Pro) n.126+71173A>C c.938A>C (p.Gln313Pro) c.557A>C (p.Gln186Pro) | |
| X | g.85956319G>A | CA413785357 | CHM | c.1000C>T (p.Gln334Ter) n.126+71172C>T c.937C>T (p.Gln313Ter) c.556C>T (p.Gln186Ter) | |
| X | g.85956319G>C | CA413785359 | CHM | c.1000C>G (p.Gln334Glu) n.126+71172C>G c.937C>G (p.Gln313Glu) c.556C>G (p.Gln186Glu) | |
| X | g.85956319G>T | CA413785360 | CHM | c.1000C>A (p.Gln334Lys) n.126+71172C>A c.937C>A (p.Gln313Lys) c.556C>A (p.Gln186Lys) | |
| X | g.85956319_85956320insA | CA1139532802 | CHM | c.999_1000insT (p.Gln334SerfsTer?) n.126+71171_126+71172insT c.936_937insT (p.Gln313SerfsTer?) c.555_556insT (p.Gln186SerfsTer?) | ClinVar |
| X | g.85956320G>A | CA517491043 | CHM | c.999C>T (p.Leu333=) n.126+71171C>T c.936C>T (p.Leu312=) c.555C>T (p.Leu185=) | |
| X | g.85956320G>C | CA517491044 | CHM | c.999C>G (p.Leu333=) n.126+71171C>G c.936C>G (p.Leu312=) c.555C>G (p.Leu185=) | |
| X | g.85956320G>T | CA517491045 | CHM | c.999C>A (p.Leu333=) n.126+71171C>A c.936C>A (p.Leu312=) c.555C>A (p.Leu185=) | |
| X | g.85956321A>C | CA413785361 | CHM | c.998T>G (p.Leu333Arg) n.126+71170T>G c.935T>G (p.Leu312Arg) c.554T>G (p.Leu185Arg) | |
| X | g.85956321A>G | CA413785363 | CHM | c.998T>C (p.Leu333Pro) n.126+71170T>C c.935T>C (p.Leu312Pro) c.554T>C (p.Leu185Pro) | |
| X | g.85956321A>T | CA413785365 | CHM | c.998T>A (p.Leu333His) n.126+71170T>A c.935T>A (p.Leu312His) c.554T>A (p.Leu185His) | |
| X | g.85956322G>A | CA413785368 | CHM | c.997C>T (p.Leu333Phe) n.126+71169C>T c.934C>T (p.Leu312Phe) c.553C>T (p.Leu185Phe) | |
| X | g.85956322G>C | CA413785370 | CHM | c.997C>G (p.Leu333Val) n.126+71169C>G c.934C>G (p.Leu312Val) c.553C>G (p.Leu185Val) | |
| X | g.85956322G>T | CA413785367 | CHM | c.997C>A (p.Leu333Ile) n.126+71169C>A c.934C>A (p.Leu312Ile) c.553C>A (p.Leu185Ile) | |
| X | g.85956323G>A | CA517491047 | CHM | c.996C>T (p.Asn332=) n.126+71168C>T c.933C>T (p.Asn311=) c.552C>T (p.Asn184=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.85956323G>C | CA413785372 | CHM | c.996C>G (p.Asn332Lys) n.126+71168C>G c.933C>G (p.Asn311Lys) c.552C>G (p.Asn184Lys) |