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.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.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) | |
| 11 | g.2572890C>G | CA379131415 | KCNQ1 | c.564C>G (p.Phe188Leu) c.478-10545C>G (n.478-10545C>G) c.825C>G (p.Phe275Leu) c.444C>G (p.Phe148Leu) c.124-10545C>G (n.124-10545C>G) | ClinVar |
| 11 | g.2572890C>T | CA472038155 | KCNQ1 | c.564C>T (p.Phe188=) c.478-10545C>T (n.478-10545C>T) c.825C>T (p.Phe275=) c.444C>T (p.Phe148=) c.124-10545C>T (n.124-10545C>T) | |
| 11 | g.2572890_2572891delinsCT | CA1948243194 | KCNQ1 | c.564_565delinsCT (p.Phe188=) c.478-10545_478-10544delinsCT (n.478-10545_478-10544delinsCT) c.825_826delinsCT (p.Phe275=) c.444_445delinsCT (p.Phe148=) c.124-10545_124-10544delinsCT (n.124-10545_124-10544delinsCT) | |
| 11 | g.2572893_2572895del | CA008383 | KCNQ1 | c.567_569del (p.Ser190del) c.478-10542_478-10540del (n.478-10542_478-10540del) c.828_830del (p.Ser277del) c.447_449del (p.Ser150del) c.124-10542_124-10540del (n.124-10542_124-10540del) | ClinVar dbSNP |
| 11 | g.2572891del | CA008398 | KCNQ1 | c.565del (p.Ser189ProfsTer13) c.478-10544del (n.478-10544del) c.826del (p.Ser276ProfsTer13) c.445del (p.Ser149ProfsTer13) c.124-10544del (n.124-10544del) c.565del (p.Ser189ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2572891T>A | CA379131419 | KCNQ1 | c.565T>A (p.Ser189Thr) c.478-10544T>A (n.478-10544T>A) c.826T>A (p.Ser276Thr) c.445T>A (p.Ser149Thr) c.124-10544T>A (n.124-10544T>A) | |
| 11 | g.2572891T>C | CA379131420 | KCNQ1 | c.565T>C (p.Ser189Pro) c.478-10544T>C (n.478-10544T>C) c.826T>C (p.Ser276Pro) c.445T>C (p.Ser149Pro) c.124-10544T>C (n.124-10544T>C) | |
| 11 | g.2572891T>G | CA379131422 | KCNQ1 | c.565T>G (p.Ser189Ala) c.478-10544T>G (n.478-10544T>G) c.826T>G (p.Ser276Ala) c.445T>G (p.Ser149Ala) c.124-10544T>G (n.124-10544T>G) | |
| 11 | g.2572892C>A | CA379131424 | KCNQ1 | c.566C>A (p.Ser189Tyr) c.478-10543C>A (n.478-10543C>A) c.827C>A (p.Ser276Tyr) c.446C>A (p.Ser149Tyr) c.124-10543C>A (n.124-10543C>A) | |
| 11 | g.2572892C= | CA1948243195 | KCNQ1 | c.566C= (p.Ser189=) c.478-10543C= (n.478-10543C=) c.827C= (p.Ser276=) c.446C= (p.Ser149=) c.124-10543C= (n.124-10543C=) | |
| 11 | g.2572892C>G | CA379131427 | KCNQ1 | c.566C>G (p.Ser189Cys) c.478-10543C>G (n.478-10543C>G) c.827C>G (p.Ser276Cys) c.446C>G (p.Ser149Cys) c.124-10543C>G (n.124-10543C>G) | |
| 11 | g.2572892C>T | CA008405 | KCNQ1 | c.566C>T (p.Ser189Phe) c.478-10543C>T (n.478-10543C>T) c.827C>T (p.Ser276Phe) c.446C>T (p.Ser149Phe) c.124-10543C>T (n.124-10543C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2572893C>A | CA472038156 | KCNQ1 | c.567C>A (p.Ser189=) c.478-10542C>A (n.478-10542C>A) c.828C>A (p.Ser276=) c.447C>A (p.Ser149=) c.124-10542C>A (n.124-10542C>A) | |
| 11 | g.2572893C= | CA1948243196 | KCNQ1 | c.567C= (p.Ser189=) c.478-10542C= (n.478-10542C=) c.828C= (p.Ser276=) c.447C= (p.Ser149=) c.124-10542C= (n.124-10542C=) | |
| 11 | g.2572893C>G | CA472038157 | KCNQ1 | c.567C>G (p.Ser189=) c.478-10542C>G (n.478-10542C>G) c.828C>G (p.Ser276=) c.447C>G (p.Ser149=) c.124-10542C>G (n.124-10542C>G) | |
| 11 | g.2572893C>T | CA472038158 | KCNQ1 | c.567C>T (p.Ser189=) c.478-10542C>T (n.478-10542C>T) c.828C>T (p.Ser276=) c.447C>T (p.Ser149=) c.124-10542C>T (n.124-10542C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2572894T>A | CA379131429 | KCNQ1 | c.568T>A (p.Ser190Thr) c.478-10541T>A (n.478-10541T>A) c.829T>A (p.Ser277Thr) c.448T>A (p.Ser150Thr) c.124-10541T>A (n.124-10541T>A) | |
| 11 | g.2572894T>C | CA008421 | KCNQ1 | c.568T>C (p.Ser190Pro) c.478-10541T>C (n.478-10541T>C) c.829T>C (p.Ser277Pro) c.448T>C (p.Ser150Pro) c.124-10541T>C (n.124-10541T>C) | ClinVar dbSNP |
| 11 | g.2572894T>G | CA379131432 | KCNQ1 | c.568T>G (p.Ser190Ala) c.478-10541T>G (n.478-10541T>G) c.829T>G (p.Ser277Ala) c.448T>G (p.Ser150Ala) c.124-10541T>G (n.124-10541T>G) | |
| 11 | g.2572894T= | CA1948243197 | KCNQ1 | c.568T= (p.Ser190=) c.478-10541T= (n.478-10541T=) c.829T= (p.Ser277=) c.448T= (p.Ser150=) c.124-10541T= (n.124-10541T=) | |
| 11 | g.2572895_2572897del | CA2695213158 | KCNQ1 | c.569_571del (p.Ser190del) c.478-10540_478-10538del (n.478-10540_478-10538del) c.830_832del (p.Ser277del) c.449_451del (p.Ser150del) c.124-10540_124-10538del (n.124-10540_124-10538del) | |
| 11 | g.2572895C>A | CA379131437 | KCNQ1 | c.569C>A (p.Ser190Ter) c.478-10540C>A (n.478-10540C>A) c.830C>A (p.Ser277Ter) c.449C>A (p.Ser150Ter) c.124-10540C>A (n.124-10540C>A) | |
| 11 | g.2572895C= | CA1948243198 | KCNQ1 | c.569C= (p.Ser190=) c.478-10540C= (n.478-10540C=) c.830C= (p.Ser277=) c.449C= (p.Ser150=) c.124-10540C= (n.124-10540C=) | |
| 11 | g.2572895C>G | CA008428 | KCNQ1 | c.569C>G (p.Ser190Trp) c.478-10540C>G (n.478-10540C>G) c.830C>G (p.Ser277Trp) c.449C>G (p.Ser150Trp) c.124-10540C>G (n.124-10540C>G) | ClinVar dbSNP |
| 11 | g.2572895C>T | CA008437 | KCNQ1 | c.569C>T (p.Ser190Leu) c.478-10540C>T (n.478-10540C>T) c.830C>T (p.Ser277Leu) c.449C>T (p.Ser150Leu) c.124-10540C>T (n.124-10540C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2572896G>A | CA040883 | KCNQ1 | c.570G>A (p.Ser190=) c.478-10539G>A (n.478-10539G>A) c.831G>A (p.Ser277=) c.450G>A (p.Ser150=) c.124-10539G>A (n.124-10539G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2572896G>C | CA040895 | KCNQ1 | c.570G>C (p.Ser190=) c.478-10539G>C (n.478-10539G>C) c.831G>C (p.Ser277=) c.450G>C (p.Ser150=) c.124-10539G>C (n.124-10539G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2572896G= | CA1948243199 | KCNQ1 | c.570G= (p.Ser190=) c.478-10539G= (n.478-10539G=) c.831G= (p.Ser277=) c.450G= (p.Ser150=) c.124-10539G= (n.124-10539G=) |