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.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.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.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=) | |
| 11 | g.2572896G>T | CA472038159 | KCNQ1 | c.570G>T (p.Ser190=) c.478-10539G>T (n.478-10539G>T) c.831G>T (p.Ser277=) c.450G>T (p.Ser150=) c.124-10539G>T (n.124-10539G>T) | |
| 11 | g.2572897T>A | CA379131442 | KCNQ1 | c.571T>A (p.Tyr191Asn) c.478-10538T>A (n.478-10538T>A) c.832T>A (p.Tyr278Asn) c.451T>A (p.Tyr151Asn) c.124-10538T>A (n.124-10538T>A) | |
| 11 | g.2572897T>C | CA008446 | KCNQ1 | c.571T>C (p.Tyr191His) c.478-10538T>C (n.478-10538T>C) c.832T>C (p.Tyr278His) c.451T>C (p.Tyr151His) c.124-10538T>C (n.124-10538T>C) | ClinVar dbSNP |
| 11 | g.2572897T>G | CA379131445 | KCNQ1 | c.571T>G (p.Tyr191Asp) c.478-10538T>G (n.478-10538T>G) c.832T>G (p.Tyr278Asp) c.451T>G (p.Tyr151Asp) c.124-10538T>G (n.124-10538T>G) | |
| 11 | g.2572897T= | CA1948243200 | KCNQ1 | c.571T= (p.Tyr191=) c.478-10538T= (n.478-10538T=) c.832T= (p.Tyr278=) c.451T= (p.Tyr151=) c.124-10538T= (n.124-10538T=) | |
| 11 | g.2572898A>C | CA379131448 | KCNQ1 | c.572A>C (p.Tyr191Ser) c.478-10537A>C (n.478-10537A>C) c.833A>C (p.Tyr278Ser) c.452A>C (p.Tyr151Ser) c.124-10537A>C (n.124-10537A>C) | |
| 11 | g.2572898A>G | CA379131449 | KCNQ1 | c.572A>G (p.Tyr191Cys) c.478-10537A>G (n.478-10537A>G) c.833A>G (p.Tyr278Cys) c.452A>G (p.Tyr151Cys) c.124-10537A>G (n.124-10537A>G) | |
| 11 | g.2572898A>T | CA379131451 | KCNQ1 | c.572A>T (p.Tyr191Phe) c.478-10537A>T (n.478-10537A>T) c.833A>T (p.Tyr278Phe) c.452A>T (p.Tyr151Phe) c.124-10537A>T (n.124-10537A>T) | |
| 11 | g.2572899C>A | CA379131453 | KCNQ1 | c.573C>A (p.Tyr191Ter) c.478-10536C>A (n.478-10536C>A) c.834C>A (p.Tyr278Ter) c.453C>A (p.Tyr151Ter) c.124-10536C>A (n.124-10536C>A) | |
| 11 | g.2572899C= | CA1948243201 | KCNQ1 | c.573C= (p.Tyr191=) c.478-10536C= (n.478-10536C=) c.834C= (p.Tyr278=) c.453C= (p.Tyr151=) c.124-10536C= (n.124-10536C=) | |
| 11 | g.2572899C>G | CA379131455 | KCNQ1 | c.573C>G (p.Tyr191Ter) c.478-10536C>G (n.478-10536C>G) c.834C>G (p.Tyr278Ter) c.453C>G (p.Tyr151Ter) c.124-10536C>G (n.124-10536C>G) | ClinVar dbSNP |
| 11 | g.2572899C>T | CA472038160 | KCNQ1 | c.573C>T (p.Tyr191=) c.478-10536C>T (n.478-10536C>T) c.834C>T (p.Tyr278=) c.453C>T (p.Tyr151=) c.124-10536C>T (n.124-10536C>T) | |
| 11 | g.2572900T>A | CA16044372 | KCNQ1 | c.574T>A (p.Phe192Ile) c.478-10535T>A (n.478-10535T>A) c.835T>A (p.Phe279Ile) c.454T>A (p.Phe152Ile) c.124-10535T>A (n.124-10535T>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572900T>C | CA379131456 | KCNQ1 | c.574T>C (p.Phe192Leu) c.478-10535T>C (n.478-10535T>C) c.835T>C (p.Phe279Leu) c.454T>C (p.Phe152Leu) c.124-10535T>C (n.124-10535T>C) | |
| 11 | g.2572900T>G | CA379131459 | KCNQ1 | c.574T>G (p.Phe192Val) c.478-10535T>G (n.478-10535T>G) c.835T>G (p.Phe279Val) c.454T>G (p.Phe152Val) c.124-10535T>G (n.124-10535T>G) | |
| 11 | g.2572900T= | CA1948243202 | KCNQ1 | c.574T= (p.Phe192=) c.478-10535T= (n.478-10535T=) c.835T= (p.Phe279=) c.454T= (p.Phe152=) c.124-10535T= (n.124-10535T=) | |
| 11 | g.2572902dup | CA2573146075 | KCNQ1 | c.576dup (p.Val193CysfsTer5) c.478-10533dup (n.478-10533dup) c.837dup (p.Val280CysfsTer5) c.456dup (p.Val153CysfsTer5) c.124-10533dup (n.124-10533dup) c.576dup (p.Val193CysfsTer?) | ClinVar dbSNP |
| 11 | g.2572901T>A | CA379131461 | KCNQ1 | c.575T>A (p.Phe192Tyr) c.478-10534T>A (n.478-10534T>A) c.836T>A (p.Phe279Tyr) c.455T>A (p.Phe152Tyr) c.124-10534T>A (n.124-10534T>A) | |
| 11 | g.2572901T>C | CA379131465 | KCNQ1 | c.575T>C (p.Phe192Ser) c.478-10534T>C (n.478-10534T>C) c.836T>C (p.Phe279Ser) c.455T>C (p.Phe152Ser) c.124-10534T>C (n.124-10534T>C) | |
| 11 | g.2572901T>G | CA379131463 | KCNQ1 | c.575T>G (p.Phe192Cys) c.478-10534T>G (n.478-10534T>G) c.836T>G (p.Phe279Cys) c.455T>G (p.Phe152Cys) c.124-10534T>G (n.124-10534T>G) | ClinVar dbSNP |
| 11 | g.2572901T= | CA1948243203 | KCNQ1 | c.575T= (p.Phe192=) c.478-10534T= (n.478-10534T=) c.836T= (p.Phe279=) c.455T= (p.Phe152=) c.124-10534T= (n.124-10534T=) | |
| 11 | g.2572902T>A | CA379131467 | KCNQ1 | c.576T>A (p.Phe192Leu) c.478-10533T>A (n.478-10533T>A) c.837T>A (p.Phe279Leu) c.456T>A (p.Phe152Leu) c.124-10533T>A (n.124-10533T>A) | |
| 11 | g.2572902T>C | CA472038161 | KCNQ1 | c.576T>C (p.Phe192=) c.478-10533T>C (n.478-10533T>C) c.837T>C (p.Phe279=) c.456T>C (p.Phe152=) c.124-10533T>C (n.124-10533T>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572902T>G | CA379131469 | KCNQ1 | c.576T>G (p.Phe192Leu) c.478-10533T>G (n.478-10533T>G) c.837T>G (p.Phe279Leu) c.456T>G (p.Phe152Leu) c.124-10533T>G (n.124-10533T>G) | gnomAD v4 |
| 11 | g.2572902_2572903delinsTG | CA1948243204 | KCNQ1 | c.576_577delinsTG (p.Phe192=) c.478-10533_478-10532delinsTG (n.478-10533_478-10532delinsTG) c.837_838delinsTG (p.Phe279=) c.456_457delinsTG (p.Phe152=) c.124-10533_124-10532delinsTG (n.124-10533_124-10532delinsTG) | |
| 11 | g.2572903del | CA674974978 | KCNQ1 | c.577del (p.Val193CysfsTer9) c.478-10532del (n.478-10532del) c.838del (p.Val280CysfsTer9) c.457del (p.Val153CysfsTer9) c.124-10532del (n.124-10532del) c.577del (p.Val193CysfsTer?) | dbSNP |
| 11 | g.2572903G>A | CA379131471 | KCNQ1 | c.577G>A (p.Val193Met) c.478-10532G>A (n.478-10532G>A) c.838G>A (p.Val280Met) c.457G>A (p.Val153Met) c.124-10532G>A (n.124-10532G>A) |