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.17387243_17387245dup | CA674172893 | KCNJ11 | c.589_591dup (p.Ile197_Val198insIle) c.850_852dup (p.Ile284_Val285insIle) n.1008_1010dup | dbSNP gnomAD v4 |
| 11 | g.17387243_17387245del | CA2580615636 | KCNJ11 | c.589_591del (p.Ile197del) c.850_852del (p.Ile284del) n.1008_1010del | ClinVar gnomAD v4 |
| 11 | g.17387245T>A | CA379770309 | KCNJ11 | c.586A>T (p.Ile196Phe) c.847A>T (p.Ile283Phe) n.1005A>T | |
| 11 | g.17387245T>C | CA379770311 | KCNJ11 | c.586A>G (p.Ile196Val) c.847A>G (p.Ile283Val) n.1005A>G | |
| 11 | g.17387245T>G | CA379770308 | KCNJ11 | c.586A>C (p.Ile196Leu) c.847A>C (p.Ile283Leu) n.1005A>C | |
| 11 | g.17387246C>A | CA379770313 | KCNJ11 | c.585G>T (p.Glu195Asp) c.846G>T (p.Glu282Asp) n.1004G>T | |
| 11 | g.17387246C>G | CA379770314 | KCNJ11 | c.585G>C (p.Glu195Asp) c.846G>C (p.Glu282Asp) n.1004G>C | |
| 11 | g.17387246C>T | CA473515358 | KCNJ11 | c.585G>A (p.Glu195=) c.846G>A (p.Glu282=) n.1004G>A | gnomAD v4 |
| 11 | g.17387247T>A | CA379770316 | KCNJ11 | c.584A>T (p.Glu195Val) c.845A>T (p.Glu282Val) n.1003A>T | |
| 11 | g.17387247T>C | CA379770321 | KCNJ11 | c.584A>G (p.Glu195Gly) c.845A>G (p.Glu282Gly) n.1003A>G | |
| 11 | g.17387247T>G | CA379770318 | KCNJ11 | c.584A>C (p.Glu195Ala) c.845A>C (p.Glu282Ala) n.1003A>C | |
| 11 | g.17387248C>A | CA379770326 | KCNJ11 | c.583G>T (p.Glu195Ter) c.844G>T (p.Glu282Ter) n.1002G>T | ClinVar |
| 11 | g.17387248C= | CA1955119180 | KCNJ11 | c.583G= (p.Glu195=) c.844G= (p.Glu282=) n.1002G= | |
| 11 | g.17387248C>G | CA379770329 | KCNJ11 | c.583G>C (p.Glu195Gln) c.844G>C (p.Glu282Gln) n.1002G>C | ClinVar |
| 11 | g.17387248C>T | CA254526 | KCNJ11 | c.583G>A (p.Glu195Lys) c.844G>A (p.Glu282Lys) n.1002G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387248_17387251del | CA912971886 | KCNJ11 | c.580_583del (p.Leu194ArgfsTer?) c.841_844del (p.Leu281ArgfsTer?) n.999_1002del | |
| 11 | g.17387248_17387251delinsCGAG | CA1955119181 | KCNJ11 | c.580_583delinsCTCG (p.Leu194=) c.841_844delinsCTCG (p.Leu281=) n.999_1002delinsCTCG | |
| 11 | g.17387249G>A | CA208185 | KCNJ11 | c.582C>T (p.Leu194=) c.843C>T (p.Leu281=) n.1001C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387249G>C | CA473515361 | KCNJ11 | c.582C>G (p.Leu194=) c.843C>G (p.Leu281=) n.1001C>G | |
| 11 | g.17387249G= | CA1955119182 | KCNJ11 | c.582C= (p.Leu194=) c.843C= (p.Leu281=) n.1001C= | |
| 11 | g.17387249G>T | CA473515362 | KCNJ11 | c.582C>A (p.Leu194=) c.843C>A (p.Leu281=) n.1001C>A | |
| 11 | g.17387250_17387252del | CA658822452 | KCNJ11 | c.580_582del (p.Leu194del) c.841_843del (p.Leu281del) n.999_1001del | ClinVar dbSNP |
| 11 | g.17387250A>C | CA379770334 | KCNJ11 | c.581T>G (p.Leu194Arg) c.842T>G (p.Leu281Arg) n.1000T>G | |
| 11 | g.17387250A>G | CA379770335 | KCNJ11 | c.581T>C (p.Leu194Pro) c.842T>C (p.Leu281Pro) n.1000T>C | |
| 11 | g.17387250A>T | CA379770337 | KCNJ11 | c.581T>A (p.Leu194His) c.842T>A (p.Leu281His) n.1000T>A | |
| 11 | g.17387255_17387272del | CA2695201085 | KCNJ11 | c.564_581del (p.His189_Leu194del) c.825_842del (p.His276_Leu281del) n.983_1000del | ClinVar |
| 11 | g.17387251G>A | CA379770339 | KCNJ11 | c.580C>T (p.Leu194Phe) c.841C>T (p.Leu281Phe) n.999C>T | |
| 11 | g.17387251G>C | CA379770341 | KCNJ11 | c.580C>G (p.Leu194Val) c.841C>G (p.Leu281Val) n.999C>G | gnomAD v4 |
| 11 | g.17387251G>T | CA379770343 | KCNJ11 | c.580C>A (p.Leu194Ile) c.841C>A (p.Leu281Ile) n.999C>A | |
| 11 | g.17387252G>A | CA473515367 | KCNJ11 | c.579C>T (p.Asp193=) c.840C>T (p.Asp280=) n.998C>T | |
| 11 | g.17387252G>C | CA379770344 | KCNJ11 | c.579C>G (p.Asp193Glu) c.840C>G (p.Asp280Glu) n.998C>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387252G= | CA1955119183 | KCNJ11 | c.579C= (p.Asp193=) c.840C= (p.Asp280=) n.998C= | |
| 11 | g.17387252G>T | CA379770346 | KCNJ11 | c.579C>A (p.Asp193Glu) c.840C>A (p.Asp280Glu) n.998C>A | |
| 11 | g.17387253T>A | CA379770349 | KCNJ11 | c.578A>T (p.Asp193Val) c.839A>T (p.Asp280Val) n.997A>T | |
| 11 | g.17387253T>C | CA379770351 | KCNJ11 | c.578A>G (p.Asp193Gly) c.839A>G (p.Asp280Gly) n.997A>G | |
| 11 | g.17387253T>G | CA379770353 | KCNJ11 | c.578A>C (p.Asp193Ala) c.839A>C (p.Asp280Ala) n.997A>C | |
| 11 | g.17387254C>A | CA379770361 | KCNJ11 | c.577G>T (p.Asp193Tyr) c.838G>T (p.Asp280Tyr) n.996G>T | COSMIC |
| 11 | g.17387254C>G | CA379770359 | KCNJ11 | c.577G>C (p.Asp193His) c.838G>C (p.Asp280His) n.996G>C | |
| 11 | g.17387254C>T | CA379770357 | KCNJ11 | c.577G>A (p.Asp193Asn) c.838G>A (p.Asp280Asn) n.996G>A | |
| 11 | g.17387255C>A | CA379770365 | KCNJ11 | c.576G>T (p.Gln192His) c.837G>T (p.Gln279His) n.995G>T | |
| 11 | g.17387255C>G | CA379770368 | KCNJ11 | c.576G>C (p.Gln192His) c.837G>C (p.Gln279His) n.995G>C | |
| 11 | g.17387255C>T | CA473515371 | KCNJ11 | c.576G>A (p.Gln192=) c.837G>A (p.Gln279=) n.995G>A | |
| 11 | g.17387256T>A | CA379770372 | KCNJ11 | c.575A>T (p.Gln192Leu) c.836A>T (p.Gln279Leu) n.994A>T | |
| 11 | g.17387256T>C | CA379770375 | KCNJ11 | c.575A>G (p.Gln192Arg) c.836A>G (p.Gln279Arg) n.994A>G | |
| 11 | g.17387256T>G | CA379770378 | KCNJ11 | c.575A>C (p.Gln192Pro) c.836A>C (p.Gln279Pro) n.994A>C | |
| 11 | g.17387257G>A | CA379770382 | KCNJ11 | c.574C>T (p.Gln192Ter) c.835C>T (p.Gln279Ter) n.993C>T | gnomAD v4 |
| 11 | g.17387257G>C | CA379770386 | KCNJ11 | c.574C>G (p.Gln192Glu) c.835C>G (p.Gln279Glu) n.993C>G | |
| 11 | g.17387257G>T | CA379770387 | KCNJ11 | c.574C>A (p.Gln192Lys) c.835C>A (p.Gln279Lys) n.993C>A | |
| 11 | g.17387258G>A | CA473515375 | KCNJ11 | c.573C>T (p.His191=) c.834C>T (p.His278=) n.992C>T | |
| 11 | g.17387258G>C | CA379770392 | KCNJ11 | c.573C>G (p.His191Gln) c.834C>G (p.His278Gln) n.992C>G |