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 |
|---|---|---|---|---|---|
| 8 | g.18400150_18400178delinsGTTGGGCTTAGAGGCTATTTTTGATCACA | CA1768218831 | NAT2 | c.147_175delinsGTTGGGCTTAGAGGCTATTTTTGATCACA (p.Glu49=) c.-57-187_-57-159delinsGTTGGGCTTAGAGGCTATTTTTGATCACA (n.-57-187_-57-159delinsGTTGGGCTTAGAGGCTATTTTTGATCACA) | |
| 8 | g.18400154_18400181del | CA580502499 | NAT2 | c.151_178del (p.Gly51Ter) c.-57-183_-57-156del (n.-57-183_-57-156del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400163G>A | CA370635291 | NAT2 | c.160G>A (p.Ala54Thr) c.-57-174G>A (n.-57-174G>A) | COSMIC |
| 8 | g.18400163G>C | CA370635292 | NAT2 | c.160G>C (p.Ala54Pro) c.-57-174G>C (n.-57-174G>C) | |
| 8 | g.18400163G= | CA1768218839 | NAT2 | c.160G= (p.Ala54=) c.-57-174G= (n.-57-174G=) | |
| 8 | g.18400163G>T | CA370635293 | NAT2 | c.160G>T (p.Ala54Ser) c.-57-174G>T (n.-57-174G>T) | dbSNP |
| 8 | g.18400164C>A | CA370635294 | NAT2 | c.161C>A (p.Ala54Asp) c.-57-173C>A (n.-57-173C>A) | |
| 8 | g.18400164C>G | CA370635295 | NAT2 | c.161C>G (p.Ala54Gly) c.-57-173C>G (n.-57-173C>G) | |
| 8 | g.18400164C>T | CA370635296 | NAT2 | c.161C>T (p.Ala54Val) c.-57-173C>T (n.-57-173C>T) | |
| 8 | g.18400165T>A | CA459699269 | NAT2 | c.162T>A (p.Ala54=) c.-57-172T>A (n.-57-172T>A) | |
| 8 | g.18400165T>C | CA459699270 | NAT2 | c.162T>C (p.Ala54=) c.-57-172T>C (n.-57-172T>C) | |
| 8 | g.18400165T>G | CA459699271 | NAT2 | c.162T>G (p.Ala54=) c.-57-172T>G (n.-57-172T>G) | |
| 8 | g.18400166A>C | CA370635297 | NAT2 | c.163A>C (p.Ile55Leu) c.-57-171A>C (n.-57-171A>C) | |
| 8 | g.18400166A>G | CA370635299 | NAT2 | c.163A>G (p.Ile55Val) c.-57-171A>G (n.-57-171A>G) | gnomAD v4 |
| 8 | g.18400166A>T | CA370635298 | NAT2 | c.163A>T (p.Ile55Phe) c.-57-171A>T (n.-57-171A>T) | |
| 8 | g.18400166_18400167delinsAT | CA1768218840 | NAT2 | c.163_164delinsAT (p.Ile55=) c.-57-171_-57-170delinsAT (n.-57-171_-57-170delinsAT) | |
| 8 | g.18400167T>A | CA370635300 | NAT2 | c.164T>A (p.Ile55Asn) c.-57-170T>A (n.-57-170T>A) | |
| 8 | g.18400167T>C | CA370635301 | NAT2 | c.164T>C (p.Ile55Thr) c.-57-170T>C (n.-57-170T>C) | |
| 8 | g.18400167T>G | CA370635302 | NAT2 | c.164T>G (p.Ile55Ser) c.-57-170T>G (n.-57-170T>G) | |
| 8 | g.18400171del | CA580502500 | NAT2 | c.168del (p.Phe56LeufsTer5) c.-57-166del (n.-57-166del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400168T>A | CA459699273 | NAT2 | c.165T>A (p.Ile55=) c.-57-169T>A (n.-57-169T>A) | |
| 8 | g.18400168T>C | CA459699272 | NAT2 | c.165T>C (p.Ile55=) c.-57-169T>C (n.-57-169T>C) | |
| 8 | g.18400168T>G | CA370635303 | NAT2 | c.165T>G (p.Ile55Met) c.-57-169T>G (n.-57-169T>G) | |
| 8 | g.18400169T>A | CA370635304 | NAT2 | c.166T>A (p.Phe56Ile) c.-57-168T>A (n.-57-168T>A) | |
| 8 | g.18400169T>C | CA370635305 | NAT2 | c.166T>C (p.Phe56Leu) c.-57-168T>C (n.-57-168T>C) | |
| 8 | g.18400169T>G | CA370635306 | NAT2 | c.166T>G (p.Phe56Val) c.-57-168T>G (n.-57-168T>G) | |
| 8 | g.18400170T>A | CA370635307 | NAT2 | c.167T>A (p.Phe56Tyr) c.-57-167T>A (n.-57-167T>A) | |
| 8 | g.18400170T>C | CA370635308 | NAT2 | c.167T>C (p.Phe56Ser) c.-57-167T>C (n.-57-167T>C) | dbSNP gnomAD v4 |
| 8 | g.18400170T>G | CA370635309 | NAT2 | c.167T>G (p.Phe56Cys) c.-57-167T>G (n.-57-167T>G) | |
| 8 | g.18400170T= | CA1768218841 | NAT2 | c.167T= (p.Phe56=) c.-57-167T= (n.-57-167T=) | |
| 8 | g.18400171T>A | CA370635310 | NAT2 | c.168T>A (p.Phe56Leu) c.-57-166T>A (n.-57-166T>A) | |
| 8 | g.18400171T>C | CA459699274 | NAT2 | c.168T>C (p.Phe56=) c.-57-166T>C (n.-57-166T>C) | |
| 8 | g.18400171T>G | CA370635311 | NAT2 | c.168T>G (p.Phe56Leu) c.-57-166T>G (n.-57-166T>G) | |
| 8 | g.18400172G>A | CA370635313 | NAT2 | c.169G>A (p.Asp57Asn) c.-57-165G>A (n.-57-165G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400172G>C | CA370635312 | NAT2 | c.169G>C (p.Asp57His) c.-57-165G>C (n.-57-165G>C) | |
| 8 | g.18400172G= | CA1768218842 | NAT2 | c.169G= (p.Asp57=) c.-57-165G= (n.-57-165G=) | |
| 8 | g.18400172G>T | CA173519893 | NAT2 | c.169G>T (p.Asp57Tyr) c.-57-165G>T (n.-57-165G>T) | dbSNP gnomAD v4 |
| 8 | g.18400173A= | CA1768218843 | NAT2 | c.170A= (p.Asp57=) c.-57-164A= (n.-57-164A=) | |
| 8 | g.18400173A>C | CA370635314 | NAT2 | c.170A>C (p.Asp57Ala) c.-57-164A>C (n.-57-164A>C) | |
| 8 | g.18400173A>G | CA4651562 | NAT2 | c.170A>G (p.Asp57Gly) c.-57-164A>G (n.-57-164A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400173A>T | CA370635315 | NAT2 | c.170A>T (p.Asp57Val) c.-57-164A>T (n.-57-164A>T) | dbSNP |
| 8 | g.18400174T>A | CA370635316 | NAT2 | c.171T>A (p.Asp57Glu) c.-57-163T>A (n.-57-163T>A) | |
| 8 | g.18400174T>C | CA4651563 | NAT2 | c.171T>C (p.Asp57=) c.-57-163T>C (n.-57-163T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400174T>G | CA370635317 | NAT2 | c.171T>G (p.Asp57Glu) c.-57-163T>G (n.-57-163T>G) | |
| 8 | g.18400174T= | CA1768218844 | NAT2 | c.171T= (p.Asp57=) c.-57-163T= (n.-57-163T=) | |
| 8 | g.18400175C>A | CA370635318 | NAT2 | c.172C>A (p.His58Asn) c.-57-162C>A (n.-57-162C>A) | |
| 8 | g.18400175C>G | CA370635319 | NAT2 | c.172C>G (p.His58Asp) c.-57-162C>G (n.-57-162C>G) | |
| 8 | g.18400175C>T | CA370635320 | NAT2 | c.172C>T (p.His58Tyr) c.-57-162C>T (n.-57-162C>T) | |
| 8 | g.18400176A>C | CA370635321 | NAT2 | c.173A>C (p.His58Pro) c.-57-161A>C (n.-57-161A>C) | |
| 8 | g.18400176A>G | CA370635322 | NAT2 | c.173A>G (p.His58Arg) c.-57-161A>G (n.-57-161A>G) |