WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107915681dup | CA913111801 | DLD | c.860dup (p.Ile289AsnfsTer2) c.*534dup (n.*534dup) c.716dup (p.Ile241AsnfsTer2) c.791dup (p.Ile266AsnfsTer2) c.563dup (p.Ile190AsnfsTer2) | |
| 7 | g.107915681G>A | CA4434567 | DLD | c.860G>A (p.Gly287Glu) c.*534G>A (n.*534G>A) c.716G>A (p.Gly239Glu) c.791G>A (p.Gly264Glu) c.563G>A (p.Gly188Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915681G>C | CA368857395 | DLD | c.860G>C (p.Gly287Ala) c.*534G>C (n.*534G>C) c.716G>C (p.Gly239Ala) c.791G>C (p.Gly264Ala) c.563G>C (p.Gly188Ala) | |
| 7 | g.107915681G= | CA1732859375 | DLD | c.860G= (p.Gly287=) c.*534G= (n.*534G=) c.716G= (p.Gly239=) c.791G= (p.Gly264=) c.563G= (p.Gly188=) | |
| 7 | g.107915681G>T | CA368857396 | DLD | c.860G>T (p.Gly287Val) c.*534G>T (n.*534G>T) c.716G>T (p.Gly239Val) c.791G>T (p.Gly264Val) c.563G>T (p.Gly188Val) | |
| 7 | g.107915682A>C | CA457108934 | DLD | c.861A>C (p.Gly287=) c.*535A>C (n.*535A>C) c.717A>C (p.Gly239=) c.792A>C (p.Gly264=) c.564A>C (p.Gly188=) | |
| 7 | g.107915682A>G | CA457108935 | DLD | c.861A>G (p.Gly287=) c.*535A>G (n.*535A>G) c.717A>G (p.Gly239=) c.792A>G (p.Gly264=) c.564A>G (p.Gly188=) | |
| 7 | g.107915682A>T | CA457108936 | DLD | c.861A>T (p.Gly287=) c.*535A>T (n.*535A>T) c.717A>T (p.Gly239=) c.792A>T (p.Gly264=) c.564A>T (p.Gly188=) | gnomAD v4 |
| 7 | g.107915686dup | CA577199130 | DLD | c.865dup (p.Ile289AsnfsTer2) c.*539dup (n.*539dup) c.721dup (p.Ile241AsnfsTer2) c.796dup (p.Ile266AsnfsTer2) c.568dup (p.Ile190AsnfsTer2) | ClinVar dbSNP gnomAD v2 |
| 7 | g.107915683A= | CA1732859376 | DLD | c.862A= (p.Lys288=) c.*536A= (n.*536A=) c.718A= (p.Lys240=) c.793A= (p.Lys265=) c.565A= (p.Lys189=) | |
| 7 | g.107915683A>C | CA368857398 | DLD | c.862A>C (p.Lys288Gln) c.*536A>C (n.*536A>C) c.718A>C (p.Lys240Gln) c.793A>C (p.Lys265Gln) c.565A>C (p.Lys189Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915683A>G | CA368857399 | DLD | c.862A>G (p.Lys288Glu) c.*536A>G (n.*536A>G) c.718A>G (p.Lys240Glu) c.793A>G (p.Lys265Glu) c.565A>G (p.Lys189Glu) | |
| 7 | g.107915683A>T | CA368857400 | DLD | c.862A>T (p.Lys288Ter) c.*536A>T (n.*536A>T) c.718A>T (p.Lys240Ter) c.793A>T (p.Lys265Ter) c.565A>T (p.Lys189Ter) | |
| 7 | g.107915684A>C | CA368857401 | DLD | c.863A>C (p.Lys288Thr) c.*537A>C (n.*537A>C) c.719A>C (p.Lys240Thr) c.794A>C (p.Lys265Thr) c.566A>C (p.Lys189Thr) | |
| 7 | g.107915684A>G | CA368857402 | DLD | c.863A>G (p.Lys288Arg) c.*537A>G (n.*537A>G) c.719A>G (p.Lys240Arg) c.794A>G (p.Lys265Arg) c.566A>G (p.Lys189Arg) | |
| 7 | g.107915684A>T | CA368857403 | DLD | c.863A>T (p.Lys288Ile) c.*537A>T (n.*537A>T) c.719A>T (p.Lys240Ile) c.794A>T (p.Lys265Ile) c.566A>T (p.Lys189Ile) | |
| 7 | g.107915685A>C | CA368857404 | DLD | c.864A>C (p.Lys288Asn) c.*538A>C (n.*538A>C) c.720A>C (p.Lys240Asn) c.795A>C (p.Lys265Asn) c.567A>C (p.Lys189Asn) | |
| 7 | g.107915685A>G | CA457108938 | DLD | c.864A>G (p.Lys288=) c.*538A>G (n.*538A>G) c.720A>G (p.Lys240=) c.795A>G (p.Lys265=) c.567A>G (p.Lys189=) | |
| 7 | g.107915685A>T | CA368857405 | DLD | c.864A>T (p.Lys288Asn) c.*538A>T (n.*538A>T) c.720A>T (p.Lys240Asn) c.795A>T (p.Lys265Asn) c.567A>T (p.Lys189Asn) | |
| 7 | g.107915686A= | CA1732859377 | DLD | c.865A= (p.Ile289=) c.*539A= (n.*539A=) c.721A= (p.Ile241=) c.796A= (p.Ile266=) c.568A= (p.Ile190=) | |
| 7 | g.107915686A>C | CA368857408 | DLD | c.865A>C (p.Ile289Leu) c.*539A>C (n.*539A>C) c.721A>C (p.Ile241Leu) c.796A>C (p.Ile266Leu) c.568A>C (p.Ile190Leu) | |
| 7 | g.107915686A>G | CA368857407 | DLD | c.865A>G (p.Ile289Val) c.*539A>G (n.*539A>G) c.721A>G (p.Ile241Val) c.796A>G (p.Ile266Val) c.568A>G (p.Ile190Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915686A>T | CA368857406 | DLD | c.865A>T (p.Ile289Phe) c.*539A>T (n.*539A>T) c.721A>T (p.Ile241Phe) c.796A>T (p.Ile266Phe) c.568A>T (p.Ile190Phe) | |
| 7 | g.107915687T>A | CA368857409 | DLD | c.866T>A (p.Ile289Asn) c.*540T>A (n.*540T>A) c.722T>A (p.Ile241Asn) c.797T>A (p.Ile266Asn) c.569T>A (p.Ile190Asn) | |
| 7 | g.107915687T>C | CA368857411 | DLD | c.866T>C (p.Ile289Thr) c.*540T>C (n.*540T>C) c.722T>C (p.Ile241Thr) c.797T>C (p.Ile266Thr) c.569T>C (p.Ile190Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107915687T>G | CA368857410 | DLD | c.866T>G (p.Ile289Ser) c.*540T>G (n.*540T>G) c.722T>G (p.Ile241Ser) c.797T>G (p.Ile266Ser) c.569T>G (p.Ile190Ser) | gnomAD v4 |
| 7 | g.107915688T>A | CA457108941 | DLD | c.867T>A (p.Ile289=) c.*541T>A (n.*541T>A) c.723T>A (p.Ile241=) c.798T>A (p.Ile266=) c.570T>A (p.Ile190=) | |
| 7 | g.107915688T>C | CA457108943 | DLD | c.867T>C (p.Ile289=) c.*541T>C (n.*541T>C) c.723T>C (p.Ile241=) c.798T>C (p.Ile266=) c.570T>C (p.Ile190=) | |
| 7 | g.107915688T>G | CA368857412 | DLD | c.867T>G (p.Ile289Met) c.*541T>G (n.*541T>G) c.723T>G (p.Ile241Met) c.798T>G (p.Ile266Met) c.570T>G (p.Ile190Met) | gnomAD v4 |
| 7 | g.107915689G>A | CA368857414 | DLD | c.868G>A (p.Asp290Asn) c.*542G>A (n.*542G>A) c.724G>A (p.Asp242Asn) c.799G>A (p.Asp267Asn) c.571G>A (p.Asp191Asn) | |
| 7 | g.107915689G>C | CA368857413 | DLD | c.868G>C (p.Asp290His) c.*542G>C (n.*542G>C) c.724G>C (p.Asp242His) c.799G>C (p.Asp267His) c.571G>C (p.Asp191His) | |
| 7 | g.107915689G= | CA1732859378 | DLD | c.868G= (p.Asp290=) c.*542G= (n.*542G=) c.724G= (p.Asp242=) c.799G= (p.Asp267=) c.571G= (p.Asp191=) | |
| 7 | g.107915689G>T | CA368857415 | DLD | c.868G>T (p.Asp290Tyr) c.*542G>T (n.*542G>T) c.724G>T (p.Asp242Tyr) c.799G>T (p.Asp267Tyr) c.571G>T (p.Asp191Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915690A= | CA1732859379 | DLD | c.869A= (p.Asp290=) c.*543A= (n.*543A=) c.725A= (p.Asp242=) c.800A= (p.Asp267=) c.572A= (p.Asp191=) | |
| 7 | g.107915690A>C | CA368857416 | DLD | c.869A>C (p.Asp290Ala) c.*543A>C (n.*543A>C) c.725A>C (p.Asp242Ala) c.800A>C (p.Asp267Ala) c.572A>C (p.Asp191Ala) | |
| 7 | g.107915690A>G | CA312446 | DLD | c.869A>G (p.Asp290Gly) c.*543A>G (n.*543A>G) c.725A>G (p.Asp242Gly) c.800A>G (p.Asp267Gly) c.572A>G (p.Asp191Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915690A>T | CA368857417 | DLD | c.869A>T (p.Asp290Val) c.*543A>T (n.*543A>T) c.725A>T (p.Asp242Val) c.800A>T (p.Asp267Val) c.572A>T (p.Asp191Val) | |
| 7 | g.107915691T>A | CA368857418 | DLD | c.870T>A (p.Asp290Glu) c.*544T>A (n.*544T>A) c.726T>A (p.Asp242Glu) c.801T>A (p.Asp267Glu) c.573T>A (p.Asp191Glu) | |
| 7 | g.107915691T>C | CA164257772 | DLD | c.870T>C (p.Asp290=) c.*544T>C (n.*544T>C) c.726T>C (p.Asp242=) c.801T>C (p.Asp267=) c.573T>C (p.Asp191=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107915691T>G | CA368857419 | DLD | c.870T>G (p.Asp290Glu) c.*544T>G (n.*544T>G) c.726T>G (p.Asp242Glu) c.801T>G (p.Asp267Glu) c.573T>G (p.Asp191Glu) | |
| 7 | g.107915691T= | CA1732859380 | DLD | c.870T= (p.Asp290=) c.*544T= (n.*544T=) c.726T= (p.Asp242=) c.801T= (p.Asp267=) c.573T= (p.Asp191=) | |
| 7 | g.107915692G>A | CA4434568 | DLD | c.871G>A (p.Val291Ile) c.*545G>A (n.*545G>A) c.727G>A (p.Val243Ile) c.802G>A (p.Val268Ile) c.574G>A (p.Val192Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915692G>C | CA368857420 | DLD | c.871G>C (p.Val291Leu) c.*545G>C (n.*545G>C) c.727G>C (p.Val243Leu) c.802G>C (p.Val268Leu) c.574G>C (p.Val192Leu) | dbSNP |
| 7 | g.107915692G= | CA1732859381 | DLD | c.871G= (p.Val291=) c.*545G= (n.*545G=) c.727G= (p.Val243=) c.802G= (p.Val268=) c.574G= (p.Val192=) | |
| 7 | g.107915692G>T | CA368857421 | DLD | c.871G>T (p.Val291Phe) c.*545G>T (n.*545G>T) c.727G>T (p.Val243Phe) c.802G>T (p.Val268Phe) c.574G>T (p.Val192Phe) | |
| 7 | g.107915693T>A | CA368857422 | DLD | c.872T>A (p.Val291Asp) c.*546T>A (n.*546T>A) c.728T>A (p.Val243Asp) c.803T>A (p.Val268Asp) c.575T>A (p.Val192Asp) | |
| 7 | g.107915693T>C | CA368857423 | DLD | c.872T>C (p.Val291Ala) c.*546T>C (n.*546T>C) c.728T>C (p.Val243Ala) c.803T>C (p.Val268Ala) c.575T>C (p.Val192Ala) | |
| 7 | g.107915693T>G | CA368857424 | DLD | c.872T>G (p.Val291Gly) c.*546T>G (n.*546T>G) c.728T>G (p.Val243Gly) c.803T>G (p.Val268Gly) c.575T>G (p.Val192Gly) | |
| 7 | g.107915693_107915694insATAC | CA2684465023 | DLD | c.872_873insATAC (p.Ser292TyrfsTer4) c.*546_*547insATAC (n.*546_*547insATAC) c.728_729insATAC (p.Ser244TyrfsTer4) c.803_804insATAC (p.Ser269TyrfsTer4) c.575_576insATAC (p.Ser193TyrfsTer4) | gnomAD v4 |
| 7 | g.107915694T>A | CA457108946 | DLD | c.873T>A (p.Val291=) c.*547T>A (n.*547T>A) c.729T>A (p.Val243=) c.804T>A (p.Val268=) c.576T>A (p.Val192=) |