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 |
|---|---|---|---|---|---|
| 19 | g.1218407_1222986del | CA916081940 | STK11 | c.291-10_922del c.-82-10_550del c.291-1966_748del n.381-10_1620del c.69-10_700del n.916-10_1698del n.916-10_1728del | ClinVar |
| 19 | g.1218418_1220718del | CA2581463466 | STK11 | c.292_734+1del c.-81_362+1del c.291-1955_560+1del n.115_632+1del n.382_824+1del c.70_512+1del n.917_1359+1del | |
| 19 | g.1218419_1226649del | CA2695201624 | STK11 | c.293_*2905del c.-80_*2del c.291-1954_*2del c.293_*2del n.383_2002del c.293_1299del c.71_1077del n.918_2110del n.918_2080del | |
| 19 | g.1220375_1221342del | CA645604068 | STK11 | c.467_862+2del c.95_490+2del c.293_688+2del n.290_760+2del n.557_954del n.363_833+2del c.245_640+2del n.1092_1487+2del | COSMIC |
| 19 | g.1220591_1220610del | CA2499225347 | STK11 | c.608_627del (p.Pro203LeufsTer?) c.236_255del (p.Pro79LeufsTer?) c.434_453del (p.Pro145LeufsTer?) n.506_525del n.698_717del n.579_598del c.386_405del (p.Pro129LeufsTer?) n.1233_1252del | ClinVar dbSNP |
| 19 | g.1220593_1220606del | CA645604084 | STK11 | c.610_623del (p.Phe204HisfsTer?) c.238_251del (p.Phe80HisfsTer?) c.436_449del (p.Phe146HisfsTer?) n.508_521del n.700_713del n.581_594del c.388_401del (p.Phe130HisfsTer?) n.1235_1248del | COSMIC |
| 19 | g.1220597_1220601del | CA1139666187 | STK11 | c.614_618del (p.Ala205GlyfsTer?) c.242_246del (p.Ala81GlyfsTer?) c.440_444del (p.Ala147GlyfsTer?) n.512_516del n.704_708del n.585_589del c.392_396del (p.Ala131GlyfsTer?) n.1239_1243del | ClinVar dbSNP |
| 19 | g.1220596_1220605dup | CA2695227921 | STK11 | c.613_622dup (p.Asp208GlyfsTer?) c.241_250dup (p.Asp84GlyfsTer?) c.439_448dup (p.Asp150GlyfsTer?) n.511_520dup n.703_712dup n.584_593dup c.391_400dup (p.Asp134GlyfsTer?) n.1238_1247dup | |
| 19 | g.1220605_1220618dup | CA2695227924 | STK11 | c.622_635dup (p.Ser213ThrfsTer?) c.250_263dup (p.Ser89ThrfsTer?) c.448_461dup (p.Ser155ThrfsTer?) n.520_533dup n.712_725dup n.593_606dup c.400_413dup (p.Ser139ThrfsTer?) n.1247_1260dup | |
| 19 | g.1220601G>A | CA023163 | STK11 | c.618G>A (p.Ala206=) c.246G>A (p.Ala82=) c.444G>A (p.Ala148=) n.516G>A n.708G>A n.589G>A c.396G>A (p.Ala132=) n.1243G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1220601G>C | CA048389 | STK11 | c.618G>C (p.Ala206=) c.246G>C (p.Ala82=) c.444G>C (p.Ala148=) n.516G>C n.708G>C n.589G>C c.396G>C (p.Ala132=) n.1243G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1220601G= | CA2317589892 | STK11 | c.618G= (p.Ala206=) c.246G= (p.Ala82=) c.444G= (p.Ala148=) n.516G= n.708G= n.589G= c.396G= (p.Ala132=) n.1243G= | |
| 19 | g.1220601G>T | CA023167 | STK11 | c.618G>T (p.Ala206=) c.246G>T (p.Ala82=) c.444G>T (p.Ala148=) n.516G>T n.708G>T n.589G>T c.396G>T (p.Ala132=) n.1243G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.1220602G>A | CA023170 | STK11 | c.619G>A (p.Asp207Asn) c.247G>A (p.Asp83Asn) c.445G>A (p.Asp149Asn) n.517G>A n.709G>A n.590G>A c.397G>A (p.Asp133Asn) n.1244G>A | ClinVar dbSNP |
| 19 | g.1220602G>C | CA402949466 | STK11 | c.619G>C (p.Asp207His) c.247G>C (p.Asp83His) c.445G>C (p.Asp149His) n.517G>C n.709G>C n.590G>C c.397G>C (p.Asp133His) n.1244G>C | dbSNP |
| 19 | g.1220602G= | CA2317589893 | STK11 | c.619G= (p.Asp207=) c.247G= (p.Asp83=) c.445G= (p.Asp149=) n.517G= n.709G= n.590G= c.397G= (p.Asp133=) n.1244G= | |
| 19 | g.1220602G>T | CA402949463 | STK11 | c.619G>T (p.Asp207Tyr) c.247G>T (p.Asp83Tyr) c.445G>T (p.Asp149Tyr) n.517G>T n.709G>T n.590G>T c.397G>T (p.Asp133Tyr) n.1244G>T | dbSNP |
| 19 | g.1220605_1220607del | CA2582342345 | STK11 | c.622_624del (p.Asp208del) c.250_252del (p.Asp84del) c.448_450del (p.Asp150del) n.520_522del n.712_714del n.593_595del c.400_402del (p.Asp134del) n.1247_1249del | ClinVar |
| 19 | g.1220603A= | CA2317589894 | STK11 | c.620A= (p.Asp207=) c.248A= (p.Asp83=) c.446A= (p.Asp149=) n.518A= n.710A= n.591A= c.398A= (p.Asp133=) n.1245A= | |
| 19 | g.1220603A>C | CA402949469 | STK11 | c.620A>C (p.Asp207Ala) c.248A>C (p.Asp83Ala) c.446A>C (p.Asp149Ala) n.518A>C n.710A>C n.591A>C c.398A>C (p.Asp133Ala) n.1245A>C | dbSNP |
| 19 | g.1220603A>G | CA402949472 | STK11 | c.620A>G (p.Asp207Gly) c.248A>G (p.Asp83Gly) c.446A>G (p.Asp149Gly) n.518A>G n.710A>G n.591A>G c.398A>G (p.Asp133Gly) n.1245A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1220603A>T | CA402949475 | STK11 | c.620A>T (p.Asp207Val) c.248A>T (p.Asp83Val) c.446A>T (p.Asp149Val) n.518A>T n.710A>T n.591A>T c.398A>T (p.Asp133Val) n.1245A>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.1220604C>A | CA402949477 | STK11 | c.621C>A (p.Asp207Glu) c.249C>A (p.Asp83Glu) c.447C>A (p.Asp149Glu) n.519C>A n.711C>A n.592C>A c.399C>A (p.Asp133Glu) n.1246C>A | ClinVar dbSNP |
| 19 | g.1220604C= | CA2317589895 | STK11 | c.621C= (p.Asp207=) c.249C= (p.Asp83=) c.447C= (p.Asp149=) n.519C= n.711C= n.592C= c.399C= (p.Asp133=) n.1246C= | |
| 19 | g.1220604C>G | CA402949479 | STK11 | c.621C>G (p.Asp207Glu) c.249C>G (p.Asp83Glu) c.447C>G (p.Asp149Glu) n.519C>G n.711C>G n.592C>G c.399C>G (p.Asp133Glu) n.1246C>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.1220604C>T | CA023174 | STK11 | c.621C>T (p.Asp207=) c.249C>T (p.Asp83=) c.447C>T (p.Asp149=) n.519C>T n.711C>T n.592C>T c.399C>T (p.Asp133=) n.1246C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1220605G>A | CA402949483 | STK11 | c.622G>A (p.Asp208Asn) c.250G>A (p.Asp84Asn) c.448G>A (p.Asp150Asn) n.520G>A n.712G>A n.593G>A c.400G>A (p.Asp134Asn) n.1247G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.1220605G>C | CA402949486 | STK11 | c.622G>C (p.Asp208His) c.250G>C (p.Asp84His) c.448G>C (p.Asp150His) n.520G>C n.712G>C n.593G>C c.400G>C (p.Asp134His) n.1247G>C | dbSNP |
| 19 | g.1220605G= | CA2317589896 | STK11 | c.622G= (p.Asp208=) c.250G= (p.Asp84=) c.448G= (p.Asp150=) n.520G= n.712G= n.593G= c.400G= (p.Asp134=) n.1247G= | |
| 19 | g.1220605G>T | CA402949487 | STK11 | c.622G>T (p.Asp208Tyr) c.250G>T (p.Asp84Tyr) c.448G>T (p.Asp150Tyr) n.520G>T n.712G>T n.593G>T c.400G>T (p.Asp134Tyr) n.1247G>T | dbSNP |
| 19 | g.1220606A>C | CA402949490 | STK11 | c.623A>C (p.Asp208Ala) c.251A>C (p.Asp84Ala) c.449A>C (p.Asp150Ala) n.521A>C n.713A>C n.594A>C c.401A>C (p.Asp134Ala) n.1248A>C | dbSNP |
| 19 | g.1220606A>G | CA402949491 | STK11 | c.623A>G (p.Asp208Gly) c.251A>G (p.Asp84Gly) c.449A>G (p.Asp150Gly) n.521A>G n.713A>G n.594A>G c.401A>G (p.Asp134Gly) n.1248A>G | dbSNP |
| 19 | g.1220606A>T | CA402949493 | STK11 | c.623A>T (p.Asp208Val) c.251A>T (p.Asp84Val) c.449A>T (p.Asp150Val) n.521A>T n.713A>T n.594A>T c.401A>T (p.Asp134Val) n.1248A>T | dbSNP |
| 19 | g.1220607C>A | CA402949495 | STK11 | c.624C>A (p.Asp208Glu) c.252C>A (p.Asp84Glu) c.450C>A (p.Asp150Glu) n.522C>A n.714C>A n.595C>A c.402C>A (p.Asp134Glu) n.1249C>A | dbSNP gnomAD v4 |
| 19 | g.1220607C>G | CA402949497 | STK11 | c.624C>G (p.Asp208Glu) c.252C>G (p.Asp84Glu) c.450C>G (p.Asp150Glu) n.522C>G n.714C>G n.595C>G c.402C>G (p.Asp134Glu) n.1249C>G | dbSNP |
| 19 | g.1220607C>T | CA504892372 | STK11 | c.624C>T (p.Asp208=) c.252C>T (p.Asp84=) c.450C>T (p.Asp150=) n.522C>T n.714C>T n.595C>T c.402C>T (p.Asp134=) n.1249C>T | dbSNP |
| 19 | g.1220608A= | CA2317589897 | STK11 | c.625A= (p.Thr209=) c.253A= (p.Thr85=) c.451A= (p.Thr151=) n.523A= n.715A= n.596A= c.403A= (p.Thr135=) n.1250A= | |
| 19 | g.1220608A>C | CA402949502 | STK11 | c.625A>C (p.Thr209Pro) c.253A>C (p.Thr85Pro) c.451A>C (p.Thr151Pro) n.523A>C n.715A>C n.596A>C c.403A>C (p.Thr135Pro) n.1250A>C | ClinVar dbSNP |
| 19 | g.1220608A>G | CA402949503 | STK11 | c.625A>G (p.Thr209Ala) c.253A>G (p.Thr85Ala) c.451A>G (p.Thr151Ala) n.523A>G n.715A>G n.596A>G c.403A>G (p.Thr135Ala) n.1250A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.1220608A>T | CA402949500 | STK11 | c.625A>T (p.Thr209Ser) c.253A>T (p.Thr85Ser) c.451A>T (p.Thr151Ser) n.523A>T n.715A>T n.596A>T c.403A>T (p.Thr135Ser) n.1250A>T | dbSNP |
| 19 | g.1220609C>A | CA10581007 | STK11 | c.626C>A (p.Thr209Asn) c.254C>A (p.Thr85Asn) c.452C>A (p.Thr151Asn) n.524C>A n.716C>A n.597C>A c.404C>A (p.Thr135Asn) n.1251C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.1220609C= | CA2317589898 | STK11 | c.626C= (p.Thr209=) c.254C= (p.Thr85=) c.452C= (p.Thr151=) n.524C= n.716C= n.597C= c.404C= (p.Thr135=) n.1251C= | |
| 19 | g.1220609C>G | CA402949507 | STK11 | c.626C>G (p.Thr209Ser) c.254C>G (p.Thr85Ser) c.452C>G (p.Thr151Ser) n.524C>G n.716C>G n.597C>G c.404C>G (p.Thr135Ser) n.1251C>G | ClinVar dbSNP |
| 19 | g.1220609C>T | CA402949509 | STK11 | c.626C>T (p.Thr209Ile) c.254C>T (p.Thr85Ile) c.452C>T (p.Thr151Ile) n.524C>T n.716C>T n.597C>T c.404C>T (p.Thr135Ile) n.1251C>T | ClinVar dbSNP |
| 19 | g.1220610C>A | CA504892373 | STK11 | c.627C>A (p.Thr209=) c.255C>A (p.Thr85=) c.453C>A (p.Thr151=) n.525C>A n.717C>A n.598C>A c.405C>A (p.Thr135=) n.1252C>A | ClinVar dbSNP |
| 19 | g.1220610C= | CA2317589899 | STK11 | c.627C= (p.Thr209=) c.255C= (p.Thr85=) c.453C= (p.Thr151=) n.525C= n.717C= n.598C= c.405C= (p.Thr135=) n.1252C= | |
| 19 | g.1220610C>G | CA504892374 | STK11 | c.627C>G (p.Thr209=) c.255C>G (p.Thr85=) c.453C>G (p.Thr151=) n.525C>G n.717C>G n.598C>G c.405C>G (p.Thr135=) n.1252C>G | dbSNP |
| 19 | g.1220610C>T | CA023178 | STK11 | c.627C>T (p.Thr209=) c.255C>T (p.Thr85=) c.453C>T (p.Thr151=) n.525C>T n.717C>T n.598C>T c.405C>T (p.Thr135=) n.1252C>T | ClinVar dbSNP |
| 19 | g.1220611T>A | CA402949512 | STK11 | c.628T>A (p.Cys210Ser) c.256T>A (p.Cys86Ser) c.454T>A (p.Cys152Ser) n.526T>A n.718T>A n.599T>A c.406T>A (p.Cys136Ser) n.1253T>A | dbSNP |
| 19 | g.1220611T>C | CA402949514 | STK11 | c.628T>C (p.Cys210Arg) c.256T>C (p.Cys86Arg) c.454T>C (p.Cys152Arg) n.526T>C n.718T>C n.599T>C c.406T>C (p.Cys136Arg) n.1253T>C |