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 |
|---|---|---|---|---|---|
| 1 | g.214657176del | CA1391480 | CENPF | c.8552del (p.Pro2851HisfsTer?) n.828del c.8729del (p.Pro2910HisfsTer?) n.500del c.7664del (p.Pro2555HisfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657176C>A | CA344857007 | CENPF | c.8552C>A (p.Pro2851Gln) n.828C>A c.8729C>A (p.Pro2910Gln) n.500C>A c.7664C>A (p.Pro2555Gln) | |
| 1 | g.214657176C= | CA2486377651 | CENPF | c.8552C= (p.Pro2851=) n.828C= c.8729C= (p.Pro2910=) n.500C= c.7664C= (p.Pro2555=) | |
| 1 | g.214657176C>G | CA344857008 | CENPF | c.8552C>G (p.Pro2851Arg) n.828C>G c.8729C>G (p.Pro2910Arg) n.500C>G c.7664C>G (p.Pro2555Arg) | |
| 1 | g.214657176C>T | CA1391481 | CENPF | c.8552C>T (p.Pro2851Leu) n.828C>T c.8729C>T (p.Pro2910Leu) n.500C>T c.7664C>T (p.Pro2555Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657177A>C | CA423429714 | CENPF | c.8553A>C (p.Pro2851=) n.829A>C c.8730A>C (p.Pro2910=) n.501A>C c.7665A>C (p.Pro2555=) | |
| 1 | g.214657177A>G | CA423429717 | CENPF | c.8553A>G (p.Pro2851=) n.829A>G c.8730A>G (p.Pro2910=) n.501A>G c.7665A>G (p.Pro2555=) | gnomAD v4 |
| 1 | g.214657177A>T | CA423429718 | CENPF | c.8553A>T (p.Pro2851=) n.829A>T c.8730A>T (p.Pro2910=) n.501A>T c.7665A>T (p.Pro2555=) | |
| 1 | g.214657178T>A | CA344857009 | CENPF | c.8554T>A (p.Ser2852Thr) n.830T>A c.8731T>A (p.Ser2911Thr) n.502T>A c.7666T>A (p.Ser2556Thr) | |
| 1 | g.214657178T>C | CA344857010 | CENPF | c.8554T>C (p.Ser2852Pro) n.830T>C c.8731T>C (p.Ser2911Pro) n.502T>C c.7666T>C (p.Ser2556Pro) | |
| 1 | g.214657178T>G | CA344857011 | CENPF | c.8554T>G (p.Ser2852Ala) n.830T>G c.8731T>G (p.Ser2911Ala) n.502T>G c.7666T>G (p.Ser2556Ala) | gnomAD v4 |
| 1 | g.214657179C>A | CA344857012 | CENPF | c.8555C>A (p.Ser2852Tyr) n.831C>A c.8732C>A (p.Ser2911Tyr) n.503C>A c.7667C>A (p.Ser2556Tyr) | |
| 1 | g.214657179C= | CA2486377652 | CENPF | c.8555C= (p.Ser2852=) n.831C= c.8732C= (p.Ser2911=) n.503C= c.7667C= (p.Ser2556=) | |
| 1 | g.214657179C>G | CA344857013 | CENPF | c.8555C>G (p.Ser2852Cys) n.831C>G c.8732C>G (p.Ser2911Cys) n.503C>G c.7667C>G (p.Ser2556Cys) | |
| 1 | g.214657179C>T | CA1391482 | CENPF | c.8555C>T (p.Ser2852Phe) n.831C>T c.8732C>T (p.Ser2911Phe) n.503C>T c.7667C>T (p.Ser2556Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657180T>A | CA423429723 | CENPF | c.8556T>A (p.Ser2852=) n.832T>A c.8733T>A (p.Ser2911=) n.504T>A c.7668T>A (p.Ser2556=) | |
| 1 | g.214657180T>C | CA423429726 | CENPF | c.8556T>C (p.Ser2852=) n.832T>C c.8733T>C (p.Ser2911=) n.504T>C c.7668T>C (p.Ser2556=) | |
| 1 | g.214657180T>G | CA423429728 | CENPF | c.8556T>G (p.Ser2852=) n.832T>G c.8733T>G (p.Ser2911=) n.504T>G c.7668T>G (p.Ser2556=) | |
| 1 | g.214657181C>A | CA344857014 | CENPF | c.8557C>A (p.Pro2853Thr) n.833C>A c.8734C>A (p.Pro2912Thr) n.505C>A c.7669C>A (p.Pro2557Thr) | |
| 1 | g.214657181C= | CA2486377653 | CENPF | c.8557C= (p.Pro2853=) n.833C= c.8734C= (p.Pro2912=) n.505C= c.7669C= (p.Pro2557=) | |
| 1 | g.214657181C>G | CA344857015 | CENPF | c.8557C>G (p.Pro2853Ala) n.833C>G c.8734C>G (p.Pro2912Ala) n.505C>G c.7669C>G (p.Pro2557Ala) | gnomAD v4 |
| 1 | g.214657181C>T | CA1391483 | CENPF | c.8557C>T (p.Pro2853Ser) n.833C>T c.8734C>T (p.Pro2912Ser) n.505C>T c.7669C>T (p.Pro2557Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657182C>A | CA344857016 | CENPF | c.8558C>A (p.Pro2853Gln) n.834C>A c.8735C>A (p.Pro2912Gln) n.506C>A c.7670C>A (p.Pro2557Gln) | |
| 1 | g.214657182C>G | CA344857018 | CENPF | c.8558C>G (p.Pro2853Arg) n.834C>G c.8735C>G (p.Pro2912Arg) n.506C>G c.7670C>G (p.Pro2557Arg) | |
| 1 | g.214657182C>T | CA344857017 | CENPF | c.8558C>T (p.Pro2853Leu) n.834C>T c.8735C>T (p.Pro2912Leu) n.506C>T c.7670C>T (p.Pro2557Leu) | |
| 1 | g.214657183A= | CA1141770945 | CENPF | c.8559A= (p.Pro2853=) n.835A= c.8736A= (p.Pro2912=) n.507A= c.7671A= (p.Pro2557=) | |
| 1 | g.214657183A>C | CA1391484 | CENPF | c.8559A>C (p.Pro2853=) n.835A>C c.8736A>C (p.Pro2912=) n.507A>C c.7671A>C (p.Pro2557=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657183A>G | CA423429734 | CENPF | c.8559A>G (p.Pro2853=) n.835A>G c.8736A>G (p.Pro2912=) n.507A>G c.7671A>G (p.Pro2557=) | |
| 1 | g.214657183A>T | CA423429735 | CENPF | c.8559A>T (p.Pro2853=) n.835A>T c.8736A>T (p.Pro2912=) n.507A>T c.7671A>T (p.Pro2557=) | |
| 1 | g.214657184A= | CA2486377654 | CENPF | c.8560A= (p.Ile2854=) n.836A= c.8737A= (p.Ile2913=) n.508A= c.7672A= (p.Ile2558=) | |
| 1 | g.214657184A>C | CA344857020 | CENPF | c.8560A>C (p.Ile2854Leu) n.836A>C c.8737A>C (p.Ile2913Leu) n.508A>C c.7672A>C (p.Ile2558Leu) | gnomAD v4 |
| 1 | g.214657184A>G | CA1391485 | CENPF | c.8560A>G (p.Ile2854Val) n.836A>G c.8737A>G (p.Ile2913Val) n.508A>G c.7672A>G (p.Ile2558Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657184A>T | CA344857019 | CENPF | c.8560A>T (p.Ile2854Phe) n.836A>T c.8737A>T (p.Ile2913Phe) n.508A>T c.7672A>T (p.Ile2558Phe) | |
| 1 | g.214657185T>A | CA344857021 | CENPF | c.8561T>A (p.Ile2854Asn) n.837T>A c.8738T>A (p.Ile2913Asn) n.509T>A c.7673T>A (p.Ile2558Asn) | |
| 1 | g.214657185T>C | CA344857022 | CENPF | c.8561T>C (p.Ile2854Thr) n.837T>C c.8738T>C (p.Ile2913Thr) n.509T>C c.7673T>C (p.Ile2558Thr) | |
| 1 | g.214657185T>G | CA344857023 | CENPF | c.8561T>G (p.Ile2854Ser) n.837T>G c.8738T>G (p.Ile2913Ser) n.509T>G c.7673T>G (p.Ile2558Ser) | |
| 1 | g.214657186C>A | CA423429743 | CENPF | c.8562C>A (p.Ile2854=) n.838C>A c.8739C>A (p.Ile2913=) n.510C>A c.7674C>A (p.Ile2558=) | dbSNP gnomAD v4 |
| 1 | g.214657186C= | CA2486377655 | CENPF | c.8562C= (p.Ile2854=) n.838C= c.8739C= (p.Ile2913=) n.510C= c.7674C= (p.Ile2558=) | |
| 1 | g.214657186C>G | CA344857024 | CENPF | c.8562C>G (p.Ile2854Met) n.838C>G c.8739C>G (p.Ile2913Met) n.510C>G c.7674C>G (p.Ile2558Met) | gnomAD v4 |
| 1 | g.214657186C>T | CA423429746 | CENPF | c.8562C>T (p.Ile2854=) n.838C>T c.8739C>T (p.Ile2913=) n.510C>T c.7674C>T (p.Ile2558=) | |
| 1 | g.214657187C>A | CA344857025 | CENPF | c.8563C>A (p.Pro2855Thr) n.839C>A c.8740C>A (p.Pro2914Thr) n.511C>A c.7675C>A (p.Pro2559Thr) | |
| 1 | g.214657187C= | CA2486377656 | CENPF | c.8563C= (p.Pro2855=) n.839C= c.8740C= (p.Pro2914=) n.511C= c.7675C= (p.Pro2559=) | |
| 1 | g.214657187C>G | CA344857026 | CENPF | c.8563C>G (p.Pro2855Ala) n.839C>G c.8740C>G (p.Pro2914Ala) n.511C>G c.7675C>G (p.Pro2559Ala) | |
| 1 | g.214657187C>T | CA344857027 | CENPF | c.8563C>T (p.Pro2855Ser) n.839C>T c.8740C>T (p.Pro2914Ser) n.511C>T c.7675C>T (p.Pro2559Ser) | dbSNP gnomAD v4 |
| 1 | g.214657188C>A | CA344857028 | CENPF | c.8564C>A (p.Pro2855His) n.840C>A c.8741C>A (p.Pro2914His) n.512C>A c.7676C>A (p.Pro2559His) | |
| 1 | g.214657188C= | CA2486377657 | CENPF | c.8564C= (p.Pro2855=) n.840C= c.8741C= (p.Pro2914=) n.512C= c.7676C= (p.Pro2559=) | |
| 1 | g.214657188C>G | CA344857029 | CENPF | c.8564C>G (p.Pro2855Arg) n.840C>G c.8741C>G (p.Pro2914Arg) n.512C>G c.7676C>G (p.Pro2559Arg) | |
| 1 | g.214657188C>T | CA344857030 | CENPF | c.8564C>T (p.Pro2855Leu) n.840C>T c.8741C>T (p.Pro2914Leu) n.512C>T c.7676C>T (p.Pro2559Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.214657189T>A | CA423429752 | CENPF | c.8565T>A (p.Pro2855=) n.841T>A c.8742T>A (p.Pro2914=) n.513T>A c.7677T>A (p.Pro2559=) | |
| 1 | g.214657189T>C | CA423429753 | CENPF | c.8565T>C (p.Pro2855=) n.841T>C c.8742T>C (p.Pro2914=) n.513T>C c.7677T>C (p.Pro2559=) | COSMIC |