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 |
|---|---|---|---|---|---|
| 11 | g.2572870_2572884del | CA2695213155 | KCNQ1 | c.544_558del (p.Gly182_Leu186del) c.478-10565_478-10551del (n.478-10565_478-10551del) c.805_819del (p.Gly269_Leu273del) c.424_438del (p.Gly142_Leu146del) c.124-10565_124-10551del (n.124-10565_124-10551del) | |
| 11 | g.2572874_2572880delinsTCCTGGG | CA1948243184 | KCNQ1 | c.548_554delinsTCCTGGG (p.Phe183=) c.478-10561_478-10555delinsTCCTGGG (n.478-10561_478-10555delinsTCCTGGG) c.809_815delinsTCCTGGG (p.Phe270=) c.428_434delinsTCCTGGG (p.Phe143=) c.124-10561_124-10555delinsTCCTGGG (n.124-10561_124-10555delinsTCCTGGG) | |
| 11 | g.2572878_2572883del | CA916079942 | KCNQ1 | c.552_557del (p.Gly185_Leu186del) c.478-10557_478-10552del (n.478-10557_478-10552del) c.813_818del (p.Gly272_Leu273del) c.432_437del (p.Gly145_Leu146del) c.124-10557_124-10552del (n.124-10557_124-10552del) | ClinVar dbSNP |
| 11 | g.2572878G>A | CA472038144 | KCNQ1 | c.552G>A (p.Leu184=) c.478-10557G>A (n.478-10557G>A) c.813G>A (p.Leu271=) c.432G>A (p.Leu144=) c.124-10557G>A (n.124-10557G>A) | gnomAD v4 |
| 11 | g.2572878G>C | CA472038145 | KCNQ1 | c.552G>C (p.Leu184=) c.478-10557G>C (n.478-10557G>C) c.813G>C (p.Leu271=) c.432G>C (p.Leu144=) c.124-10557G>C (n.124-10557G>C) | |
| 11 | g.2572878G>T | CA472038146 | KCNQ1 | c.552G>T (p.Leu184=) c.478-10557G>T (n.478-10557G>T) c.813G>T (p.Leu271=) c.432G>T (p.Leu144=) c.124-10557G>T (n.124-10557G>T) | |
| 11 | g.2572879G>A | CA040822 | KCNQ1 | c.553G>A (p.Gly185Ser) c.478-10556G>A (n.478-10556G>A) c.814G>A (p.Gly272Ser) c.433G>A (p.Gly145Ser) c.124-10556G>A (n.124-10556G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572879G>C | CA379131373 | KCNQ1 | c.553G>C (p.Gly185Arg) c.478-10556G>C (n.478-10556G>C) c.814G>C (p.Gly272Arg) c.433G>C (p.Gly145Arg) c.124-10556G>C (n.124-10556G>C) | |
| 11 | g.2572879G= | CA1948243186 | KCNQ1 | c.553G= (p.Gly185=) c.478-10556G= (n.478-10556G=) c.814G= (p.Gly272=) c.433G= (p.Gly145=) c.124-10556G= (n.124-10556G=) | |
| 11 | g.2572879G>T | CA379131374 | KCNQ1 | c.553G>T (p.Gly185Cys) c.478-10556G>T (n.478-10556G>T) c.814G>T (p.Gly272Cys) c.433G>T (p.Gly145Cys) c.124-10556G>T (n.124-10556G>T) | |
| 11 | g.2572880G>A | CA008316 | KCNQ1 | c.554G>A (p.Gly185Asp) c.478-10555G>A (n.478-10555G>A) c.815G>A (p.Gly272Asp) c.434G>A (p.Gly145Asp) c.124-10555G>A (n.124-10555G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2572880G>C | CA379131377 | KCNQ1 | c.554G>C (p.Gly185Ala) c.478-10555G>C (n.478-10555G>C) c.815G>C (p.Gly272Ala) c.434G>C (p.Gly145Ala) c.124-10555G>C (n.124-10555G>C) | |
| 11 | g.2572880G= | CA1948243187 | KCNQ1 | c.554G= (p.Gly185=) c.478-10555G= (n.478-10555G=) c.815G= (p.Gly272=) c.434G= (p.Gly145=) c.124-10555G= (n.124-10555G=) | |
| 11 | g.2572880G>T | CA008323 | KCNQ1 | c.554G>T (p.Gly185Val) c.478-10555G>T (n.478-10555G>T) c.815G>T (p.Gly272Val) c.434G>T (p.Gly145Val) c.124-10555G>T (n.124-10555G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572881C>A | CA472038147 | KCNQ1 | c.555C>A (p.Gly185=) c.478-10554C>A (n.478-10554C>A) c.816C>A (p.Gly272=) c.435C>A (p.Gly145=) c.124-10554C>A (n.124-10554C>A) | |
| 11 | g.2572881C>G | CA472038148 | KCNQ1 | c.555C>G (p.Gly185=) c.478-10554C>G (n.478-10554C>G) c.816C>G (p.Gly272=) c.435C>G (p.Gly145=) c.124-10554C>G (n.124-10554C>G) | |
| 11 | g.2572881C>T | CA472038149 | KCNQ1 | c.555C>T (p.Gly185=) c.478-10554C>T (n.478-10554C>T) c.816C>T (p.Gly272=) c.435C>T (p.Gly145=) c.124-10554C>T (n.124-10554C>T) | |
| 11 | g.2572885_2572895del | CA2695213157 | KCNQ1 | c.559_569del (p.Ile187ValfsTer7) c.478-10550_478-10540del (n.478-10550_478-10540del) c.820_830del (p.Ile274ValfsTer7) c.439_449del (p.Ile147ValfsTer7) c.124-10550_124-10540del (n.124-10550_124-10540del) c.559_569del (p.Ile187ValfsTer?) | |
| 11 | g.2572882C>A | CA379131383 | KCNQ1 | c.556C>A (p.Leu186Ile) c.478-10553C>A (n.478-10553C>A) c.817C>A (p.Leu273Ile) c.436C>A (p.Leu146Ile) c.124-10553C>A (n.124-10553C>A) | ClinVar |
| 11 | g.2572882C= | CA1948243188 | KCNQ1 | c.556C= (p.Leu186=) c.478-10553C= (n.478-10553C=) c.817C= (p.Leu273=) c.436C= (p.Leu146=) c.124-10553C= (n.124-10553C=) | |
| 11 | g.2572882C>G | CA379131380 | KCNQ1 | c.556C>G (p.Leu186Val) c.478-10553C>G (n.478-10553C>G) c.817C>G (p.Leu273Val) c.436C>G (p.Leu146Val) c.124-10553C>G (n.124-10553C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572882C>T | CA008331 | KCNQ1 | c.556C>T (p.Leu186Phe) c.478-10553C>T (n.478-10553C>T) c.817C>T (p.Leu273Phe) c.436C>T (p.Leu146Phe) c.124-10553C>T (n.124-10553C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2572883T>A | CA379131385 | KCNQ1 | c.557T>A (p.Leu186His) c.478-10552T>A (n.478-10552T>A) c.818T>A (p.Leu273His) c.437T>A (p.Leu146His) c.124-10552T>A (n.124-10552T>A) | |
| 11 | g.2572883T>C | CA16613286 | KCNQ1 | c.557T>C (p.Leu186Pro) c.478-10552T>C (n.478-10552T>C) c.818T>C (p.Leu273Pro) c.437T>C (p.Leu146Pro) c.124-10552T>C (n.124-10552T>C) | ClinVar dbSNP |
| 11 | g.2572883T>G | CA008339 | KCNQ1 | c.557T>G (p.Leu186Arg) c.478-10552T>G (n.478-10552T>G) c.818T>G (p.Leu273Arg) c.437T>G (p.Leu146Arg) c.124-10552T>G (n.124-10552T>G) | ClinVar dbSNP |
| 11 | g.2572883T= | CA1948243189 | KCNQ1 | c.557T= (p.Leu186=) c.478-10552T= (n.478-10552T=) c.818T= (p.Leu273=) c.437T= (p.Leu146=) c.124-10552T= (n.124-10552T=) | |
| 11 | g.2572884C>A | CA472038152 | KCNQ1 | c.558C>A (p.Leu186=) c.478-10551C>A (n.478-10551C>A) c.819C>A (p.Leu273=) c.438C>A (p.Leu146=) c.124-10551C>A (n.124-10551C>A) | |
| 11 | g.2572884C>G | CA472038150 | KCNQ1 | c.558C>G (p.Leu186=) c.478-10551C>G (n.478-10551C>G) c.819C>G (p.Leu273=) c.438C>G (p.Leu146=) c.124-10551C>G (n.124-10551C>G) | |
| 11 | g.2572884C>T | CA472038151 | KCNQ1 | c.558C>T (p.Leu186=) c.478-10551C>T (n.478-10551C>T) c.819C>T (p.Leu273=) c.438C>T (p.Leu146=) c.124-10551C>T (n.124-10551C>T) | COSMIC COSMIC |
| 11 | g.2572885A= | CA1948243191 | KCNQ1 | c.559A= (p.Ile187=) c.478-10550A= (n.478-10550A=) c.820A= (p.Ile274=) c.439A= (p.Ile147=) c.124-10550A= (n.124-10550A=) | |
| 11 | g.2572885A>C | CA379131389 | KCNQ1 | c.559A>C (p.Ile187Leu) c.478-10550A>C (n.478-10550A>C) c.820A>C (p.Ile274Leu) c.439A>C (p.Ile147Leu) c.124-10550A>C (n.124-10550A>C) | |
| 11 | g.2572885A>G | CA008353 | KCNQ1 | c.559A>G (p.Ile187Val) c.478-10550A>G (n.478-10550A>G) c.820A>G (p.Ile274Val) c.439A>G (p.Ile147Val) c.124-10550A>G (n.124-10550A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572885A>T | CA379131391 | KCNQ1 | c.559A>T (p.Ile187Phe) c.478-10550A>T (n.478-10550A>T) c.820A>T (p.Ile274Phe) c.439A>T (p.Ile147Phe) c.124-10550A>T (n.124-10550A>T) | |
| 11 | g.2572885_2572888delinsATCT | CA1948243190 | KCNQ1 | c.559_562delinsATCT (p.Ile187=) c.478-10550_478-10547delinsATCT (n.478-10550_478-10547delinsATCT) c.820_823delinsATCT (p.Ile274=) c.439_442delinsATCT (p.Ile147=) c.124-10550_124-10547delinsATCT (n.124-10550_124-10547delinsATCT) | |
| 11 | g.2572886T>A | CA379131392 | KCNQ1 | c.560T>A (p.Ile187Asn) c.478-10549T>A (n.478-10549T>A) c.821T>A (p.Ile274Asn) c.440T>A (p.Ile147Asn) c.124-10549T>A (n.124-10549T>A) | ClinVar |
| 11 | g.2572886T>C | CA379131394 | KCNQ1 | c.560T>C (p.Ile187Thr) c.478-10549T>C (n.478-10549T>C) c.821T>C (p.Ile274Thr) c.440T>C (p.Ile147Thr) c.124-10549T>C (n.124-10549T>C) | |
| 11 | g.2572886T>G | CA379131396 | KCNQ1 | c.560T>G (p.Ile187Ser) c.478-10549T>G (n.478-10549T>G) c.821T>G (p.Ile274Ser) c.440T>G (p.Ile147Ser) c.124-10549T>G (n.124-10549T>G) | |
| 11 | g.2572889_2572891del | CA008360 | KCNQ1 | c.563_565del (p.Phe188del) c.478-10546_478-10544del (n.478-10546_478-10544del) c.824_826del (p.Phe275del) c.443_445del (p.Phe148del) c.124-10546_124-10544del (n.124-10546_124-10544del) | ClinVar dbSNP |
| 11 | g.2572887C>A | CA472038153 | KCNQ1 | c.561C>A (p.Ile187=) c.478-10548C>A (n.478-10548C>A) c.822C>A (p.Ile274=) c.441C>A (p.Ile147=) c.124-10548C>A (n.124-10548C>A) | |
| 11 | g.2572887C>G | CA379131398 | KCNQ1 | c.561C>G (p.Ile187Met) c.478-10548C>G (n.478-10548C>G) c.822C>G (p.Ile274Met) c.441C>G (p.Ile147Met) c.124-10548C>G (n.124-10548C>G) | gnomAD v4 |
| 11 | g.2572887C>T | CA472038154 | KCNQ1 | c.561C>T (p.Ile187=) c.478-10548C>T (n.478-10548C>T) c.822C>T (p.Ile274=) c.441C>T (p.Ile147=) c.124-10548C>T (n.124-10548C>T) | |
| 11 | g.2572888T>A | CA379131401 | KCNQ1 | c.562T>A (p.Phe188Ile) c.478-10547T>A (n.478-10547T>A) c.823T>A (p.Phe275Ile) c.442T>A (p.Phe148Ile) c.124-10547T>A (n.124-10547T>A) | |
| 11 | g.2572888T>C | CA379131403 | KCNQ1 | c.562T>C (p.Phe188Leu) c.478-10547T>C (n.478-10547T>C) c.823T>C (p.Phe275Leu) c.442T>C (p.Phe148Leu) c.124-10547T>C (n.124-10547T>C) | |
| 11 | g.2572888T>G | CA379131405 | KCNQ1 | c.562T>G (p.Phe188Val) c.478-10547T>G (n.478-10547T>G) c.823T>G (p.Phe275Val) c.442T>G (p.Phe148Val) c.124-10547T>G (n.124-10547T>G) | |
| 11 | g.2572889T>A | CA379131407 | KCNQ1 | c.563T>A (p.Phe188Tyr) c.478-10546T>A (n.478-10546T>A) c.824T>A (p.Phe275Tyr) c.443T>A (p.Phe148Tyr) c.124-10546T>A (n.124-10546T>A) | |
| 11 | g.2572889T>C | CA008374 | KCNQ1 | c.563T>C (p.Phe188Ser) c.478-10546T>C (n.478-10546T>C) c.824T>C (p.Phe275Ser) c.443T>C (p.Phe148Ser) c.124-10546T>C (n.124-10546T>C) | ClinVar dbSNP |
| 11 | g.2572889T>G | CA379131411 | KCNQ1 | c.563T>G (p.Phe188Cys) c.478-10546T>G (n.478-10546T>G) c.824T>G (p.Phe275Cys) c.443T>G (p.Phe148Cys) c.124-10546T>G (n.124-10546T>G) | |
| 11 | g.2572889T= | CA1948243192 | KCNQ1 | c.563T= (p.Phe188=) c.478-10546T= (n.478-10546T=) c.824T= (p.Phe275=) c.443T= (p.Phe148=) c.124-10546T= (n.124-10546T=) | |
| 11 | g.2572889_2572892delinsTCTC | CA1948243193 | KCNQ1 | c.563_566delinsTCTC (p.Phe188=) c.478-10546_478-10543delinsTCTC (n.478-10546_478-10543delinsTCTC) c.824_827delinsTCTC (p.Phe275=) c.443_446delinsTCTC (p.Phe148=) c.124-10546_124-10543delinsTCTC (n.124-10546_124-10543delinsTCTC) | |
| 11 | g.2572890C>A | CA379131412 | KCNQ1 | c.564C>A (p.Phe188Leu) c.478-10545C>A (n.478-10545C>A) c.825C>A (p.Phe275Leu) c.444C>A (p.Phe148Leu) c.124-10545C>A (n.124-10545C>A) |