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 |
|---|---|---|---|---|---|
| X | g.86041956_86048370delinsCCTAAAGCCCCTCATCAGATACAATCACTTTAATATAAAGACCATTTTACCTTAATTATTTCTACGGTAGCTTATGGAAACTAATAGATTGGAAACTAAATGTAAACTAAGGAGAATCTTACATGAACTTATCTAGTTGGTGCGGAAAATCGAATTCAGACTCAACAGACGCTTATCCAGCGCAACCATGCTTTCATATATTTTTTCCCTCCTGTAAAGCAAGGCTAATTTATTGCCCGAGTGGCTGTCTGGACTAACTGGAACAAATACGGACGCGGTGGGAGTTCCATTCTGGCGAAACTAGGGTGAGAGGTTTTTTGTGGGTTTTCATCGAGGAGACATGGAAACGAAAAAGATATGGAATATATTCTGAAAGTATTGGTGTGAAAAACCATGCCTCGAGGGCCAACACGAAAGTACAGAAACGATGGCGGGAAACAGTTTTTTAGGCTGGAATGAAAGTCTCCTTTGTTCACAGAGCAAACCGCCTTCAATTTCACTCCGCTCTCCGTGTCTCCTAACAATTTTGCTTCAGTATTGTCAAGGGGTATCCAAGTCTCCCACATTCATCCTAGCTAACGGAATAAAAATCTACATTTCTTTCCTACTTCAACCCTCCAGGCTAAATGAGCTACAGCATTCAGCCTGGAAAATGAGTCGAGCTTTTAACTTACGTGTAAACATTTTAAATATAATACTGTAGTCGCCTGCCTGGACCTTCCACCCAAGAACTACAACACCCAGAATGCACTGTTTTCTTTTCCGCCTTCCACGGAGGGAATGCCTAACTTGATCTCATTTCCACAAGTAATAGTCACATGACACGTTTCCCGTCAAGATGGCGGATACTCTCCCTTCGGAGTTTGATGTGATCGTAATAGGGACGGGTATGTGTAGCCTGGTGCTTCCTGGACAAAGTTTAGGAAGACTGTCTTGTTTCTGTTTTTTCTGTCAGTGGCGAGTTTTGGGACAAACATCGTGGGTCGAGAGTGGGAGGGAGAACTGAAAGGAAGTGAGGTAGTCCGGAGTCAGCGCGGGAGTTGGCAGTTACAGGGAGGGGCTGGGACCCGCAGTGCTTATCGCCATTTGAGTAGGGGTTGATCTGGTCGATGCTGATTGCTGAGGTTGGTTGCTGCGGTGATTCCTGTTAATTTCCTTAGAGGGAAGTGGATGTGCAGTGTCATGAAATGGAGGGTCGGGATTTTATCAACGGAGACGACTTTGGCAAGACATTATGATTCCTTCCTTATTGATTTCAAGGTGATATTCCCCATCATTTTGTCTCGCCATTTCATAGGACTTTTTCATAGATTTGTATGATCTTAGCATACATCGCAGCTCAGACACAGCTTAATCCTCAGTTTTACAAGAAAGATGCTCAATTATTGCCCATGTGCGTATGAATTTACTAGGGAAAGTAAACGGATTCTATTTTGTTGAGAAACCTAGGGAATTTTATTTTGTTGAGGTAGCCATTATTCCTGCTTTATGGTGCTTAAAGCATCTTGCTTTCTACCATCAATAACTAAATGTGCTGAGAATAAGGTCCTGAGTTCCAGTTCAGGTGTGTGACCTTATCTAACTCTTGTTTTCCCGTCGTTTGTTCTTCATGTTTTGGGTGGAACCAGAAACTCCTCTGCAGTTTCTAGTTGACATATTCAGTGTACAACACGTAGCAGAACACATATGGCAGCAATTTCAATTTTTTTTAATAGTGTAAGGGATGATCATTTTAGATGGAATGAAATAGGTTGTTTGATGGGGTTTTTTACTGTTTGTAGAATGTGGTAGGCCAGAGAAGCTCTGGTGGATGGGACCCTGTCCATTGTGTTAATGAATTCAGTTCGTTGTCTTCTCATACAGCCATGATTAGGAGCAGCCATGTTTTCAGGTTGGGAGTAAAAATAATAGCTACCTGTTTTCGAATGCTTAAAATTTCCTAATCACTGTGCTAAGCACTTTACAAGCCGAACATAATCCTCACAACCTTGTTAGAGTAGTAGGTACTCTCTGCATTTTGTAGAAGAGGAAAAGGGGACTTGGAAAAGTTGTAATTTGCTCAGGATCACACAGCTGGTAAATTTCCAAAGGCCCATTCCATCCCAGGAAAACAGTCAGTGGTTCTGATCCTCAGAGTTGACCCATATTCGTAGAAACAATTGAGAAAACTTGGTTTTAGGTCTTGCTTAGTGCTAGTATGAATTGCTTGAATTGGGAGGGCCAGGCACTAAATCTCTCTGAGCCTCAGTTTCCTTGTTTTTGAATATAAGGAAGGTAAAATAGATGGTCTTTATGTTGTCTAACAAAAAATGCCTGGGTAACAGTTCTCAGAACAGCATGGACAGGTTTATTCTTAGCCTGAAAATAACTGCATGGCTGCAAATAACCTGGTTGTAGCTGCTATGAACAGATGTTGGATGAGAGCTGGAAAGAGCCAATGGACTATTCATTTTTTCTTTTAAGTCTATACTAAAACTGAGAACAGCATCCATTTTGGAATAGTTGTTATACCATACTTGAGTTTTATAATCTTGCTTTTTTTGTGTAGGAACTTGAGGTGTTTTTAACAATTTTTTTAATCAACAATTTTTTTTTTCAGGTCTGGGTTCAAATTTTAATTGATGAATGTTAATTCTTATGAATGATGCTAATGTTTTTCATAAATATTTTGCCTTCTGTACAGTTCAGAATTGGAAGACATCCATCCTGATGGAGTCTGTTATGGTAGAGGTAGGAAGTTACAGTGAGTGAGCCAGAGAATTGCATCAGGTGACATCGCTTATATTTGGAAAAATACTCATTTTATACTTATCCCAGTGAGTGCAATGTTATTTTTCAGTGTTTGGGAAGAACTTATTTGAAGTTAATCTTAAAACTTAAATTTTTCATATTGTTTATTGGTGACACATTCTAGGTTTTATCAAGCACATTGCTTAAATTTATGATATGTAATTTTGCTTTTAGGTACATCAAAAGTGTAAAAATTGAATAAAAGAGTCATTCCCCAAATAAATGATTCCAACAATTCCAATCATGATTTAATTTGATTTATTTTTTAGTGTGCTTGGGATATTTCTCTTGTGAAATAGTTTGCTGAAAGTAGCCTTTAAAATGTTTGCTTTATTAAATGTATTACATTGAGCAAATCATAGAAAAAGCAGTGTTTCATAGATTCAGTTGTATTAATAAAAGTAGAAGCAATAATGCATGCATCAGAAACATGAAGAAATAGGCTATTAGATATACTTTTTAGCAGATTTAGTCCTAGTTAAAATGTCATAAAGGAACAATTGCTTCATCAAGTATAATCATGGAAGATAATATTTTATAATCCCTTTCACCTTGATTAACTTGCATTATCATTTTCTGTAATGCAAGATGGAAATTGTTCCTTAAGATCATATTTTCGAGAGATTATGGAAAAAAATAAACTTTGTATTTTCTTAGTTAAGCCCATTTCCTTCTGATTAGAAAATACAGTAAATATCTCTTGAACATCCAAAGACAGAAGAGTAAGCTAAAGTGGAATTGCGGAAAAAATAGAAGAAAATGGAATAAAGAAGGAGGGCCAACTGGAGTCTCAAGGGAGAGGATAAAAATAGATATATGTGGTAAGGGTCTAGAAGGTGCTCTTCAGCTTGGGTACAGAATTGTCATTTTCAGGGTATTTTGCCATTTAAAAAGTCATTTAAATGACAGTTTTGTGGATTATAGACAAGTACCATTGGTTGAACGTTAAAAGTCGTCCCAGTAACATTACATCTCACTGGAGGTGACTTATCTGGAAGCCTGTGTAATCTGCAGCACAGCAGAGCCAAGAACTCAACAGAAGAGCAGTCAAGATGGAAGTTATAAGATCTATATGATAATATTGACATGCTTCATACATAGGGGAATCCCTGAGATCATCACTTAGAACATATTCATCCTCATTTTAAAAATAATTCTAGCAAGCTCAGCATATTAGAACCACCCCCTTAGAAGATACAAGGAATGTTATCAACTTCTGCAAAGACTATGTTTGGTGGGGTTGCTATTAGACATACAAATGACAGTTTGTATAGGAAAGGGAAGAGAAAAACACCTAAAATGCAAACTTACATCAAACATCACAAAGGCCTGATAACATTTAGTGTAGTGACAAATACTCATTTTTCAGGTCATTCAACCCACATTTACTGAGAACCTAGTCCCTTCCCTTGTGAAGTTTACTGTATTGCCTATTCTCAGGAACGTTCTGGCCTTCCTAACAGTCATATCCCCAAAGCTGTTCTTAAGACAATGTAGGCTTTTCATTGCATCCTTCTTTCTTTTTGAAGACCATGTAGACATTCAGCCTGCATTTTTTCTTTTTAAAAGCACACTGCTCACATCTTTTGGAGTTCTTCCCCTAAGATGGGCTGCAGAGTAGGTTAGCTTAATTTTTCTACTGCATAGGATAAACACATATATTCTTTTGATTTAAGAGTTTTATTGTTAGCCAAGCATGGTGGCACGGGCCTGTAATCCCCATTACTCTATAGGCTAAGGCACAGGCATCCCTTGATCCTGGAAGGCGGAGGTTGCAGTGAGCTTAGATGGCACCACTGCACTCTAGTCAGAGAAACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAGTTTCATTGGCCAGGTGCAGTGGCTCAGGCCTGTAATCCCAGCACTTGGGGAAGCCGAGGCAGGTGGATTGCTTGAGCTCAGGAGTTTGAAACCTCAGCCTCCCAAGTAGCTGAAATGGGTGACACAGCAAAACTGTATTTCTACAAAAAAAATACAAAAATTAATTGGGTATGGTGACACGTGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTGGGAGGATTGCCTGAAACTGGGAGTTTGAGGCTGCAGTGAGCTATAGTTGTGTCACTGCACTTCAGCCTGGGCAACAGAGCAAGACCCTATCTCAAAAAAAAAAAAAAGTTTTATTGCTAAAGATTATGGGGAAAGAGAAGGGATAGCAAAGATAAACATGGAAATTATAAGGAGTACTGCCCCTAAATCCTGATTATCTTGCTAGATAGTGTTTAGCACCATACAGTAGTAGATGTGGCAGCATGGTGTATGATAATCACATGACCATCCTATTGTGTGATTTTGGGAAAATTACAGAATTTCTTGTGACATCATTTAGTTCATCTGTAAAGTGAGAAATTTCAATAGATGATCTCCAAGGTAGGGATCTACCAGCCCTAAAATTACCATTGTATATATCTATTTATGACACCATGTCCTTGAGAAAAGGCTAAATTCTGTTCTGTGTAGTCTTTTTAAGAAGGAAAGTCAGTGTTTCATATACTTCAGAAATTTTCCTATAAAAATGGCTGATAGGGTTTAGATATTTGTCCTGCCCAAATCTCATGTTGAAATGTTATCCTCGTTGTCGGAGGTGGGGCCTGATGGGATGTGTTTGGGTCATGGGAGTGGATCCCTCATGGCTTGGTACTCTTCTTGTAATAGTGAATTCGTTCTTGCAGGATCTGGTGGTTTATTTTTTAATTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCTAGTTGGAGTGCAGTGGCACAATCATGGCCCACTGCAGCCTTAACCTCCTGGGCCCAAGCAATCCTCCCACCTCAGACTCCTGAGTAGCTGAGATTACAGACATGCATCACCATGCCTGGCTAATTTTTTTTTTTTTATTTTTGTAGAGATGGGGTCTGCCTATGTTGCCCAGGCTGGTTTTGCACTTCTGAACTCAAGCAATCTACCTGCCTTGGTGGCCCAAATTGCTGGGATTACAGATGGGAGCCACTGTGCCTGGTCGACTGGTTGTTTAAAAGTGTGTGGCATCTCCCCACACTTGCTTGCCTTGCCTCTCACCAAGGGAGATGCCTGCTTCCCCTTTGCCTTCTGCTATGACTAAAAGCTCCCTCAGGCCTCCCTAGAAGCCGAGCAGATGCCTGTACCATGCTTGTACAGCCTGCAGAACCCTGAGCCAATTAAACCTCTTTTCTTTATAAATTACCCAGTTTCAGGCATTCCTTTATGGCAACACAGGAACAGCCTAATACAGTGACTGATTAGAAAAGGCATTTTCTTAAAAATGATAGGCTGCTTTTTTCAGAAAAGGTCACTTAAGTAGCCTTTCCTTGATGTTGGGATGTTCCAGTCCCATTCCTTGATGTTGGTGAATTTAAACATTAAGGTAGTTAACCTTGACTGGCAGCTCATTGACTTATGATGATGTTGGAATAGCATCACTTCTGTAAGCCTTGGGGGATAGTAATATTGCAGGAGGAGTTGTGAAAACTGATATTTACCAAATATCTGTTTGTGCCAGCCTTAACACAAGTGATTTCCTATATTTCTAACTTAATCTTCTCCCAGGATGCCTGAATGTGGT | CA915951258 | ClinVar | ||
| X | g.86047383C>A | CA2694206276 | CHM | c.49+101G>T (n.49+101G>T) n.78+101G>T c.-392+101G>T (n.-392+101G>T) | gnomAD v4 |
| X | g.86047384T>C | CA2694206277 | CHM | c.49+100A>G (n.49+100A>G) n.78+100A>G c.-392+100A>G (n.-392+100A>G) | gnomAD v4 |
| X | g.86047385C>A | CA2694206278 | CHM | c.49+99G>T (n.49+99G>T) n.78+99G>T c.-392+99G>T (n.-392+99G>T) | gnomAD v4 |
| X | g.86047385C= | CA2442509564 | CHM | c.49+99G= (n.49+99G=) n.78+99G= c.-392+99G= (n.-392+99G=) | |
| X | g.86047385C>T | CA332667685 | CHM | c.49+99G>A (n.49+99G>A) n.78+99G>A c.-392+99G>A (n.-392+99G>A) | dbSNP gnomAD v4 |
| X | g.86047386G>A | CA2694206279 | CHM | c.49+98C>T (n.49+98C>T) n.78+98C>T c.-392+98C>T (n.-392+98C>T) | gnomAD v4 |
| X | g.86047386G>C | CA2579656296 | CHM | c.49+98C>G (n.49+98C>G) n.78+98C>G c.-392+98C>G (n.-392+98C>G) | |
| X | g.86047386G>T | CA2694206280 | CHM | c.49+98C>A (n.49+98C>A) n.78+98C>A c.-392+98C>A (n.-392+98C>A) | gnomAD v4 |
| X | g.86047388C>A | CA879161504 | CHM | c.49+96G>T (n.49+96G>T) n.78+96G>T c.-392+96G>T (n.-392+96G>T) | dbSNP gnomAD v4 |
| X | g.86047388C= | CA2442509565 | CHM | c.49+96G= (n.49+96G=) n.78+96G= c.-392+96G= (n.-392+96G=) | |
| X | g.86047388C>G | CA879161505 | CHM | c.49+96G>C (n.49+96G>C) n.78+96G>C c.-392+96G>C (n.-392+96G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.86047388C>T | CA2694206281 | CHM | c.49+96G>A (n.49+96G>A) n.78+96G>A c.-392+96G>A (n.-392+96G>A) | gnomAD v4 |
| X | g.86047389C= | CA2442509566 | CHM | c.49+95G= (n.49+95G=) n.78+95G= c.-392+95G= (n.-392+95G=) | |
| X | g.86047389C>G | CA1135004668 | CHM | c.49+95G>C (n.49+95G>C) n.78+95G>C c.-392+95G>C (n.-392+95G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.86047390C>A | CA1135004670 | CHM | c.49+94G>T (n.49+94G>T) n.78+94G>T c.-392+94G>T (n.-392+94G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.86047390C= | CA2442509567 | CHM | c.49+94G= (n.49+94G=) n.78+94G= c.-392+94G= (n.-392+94G=) | |
| X | g.86047390C>T | CA2579656297 | CHM | c.49+94G>A (n.49+94G>A) n.78+94G>A c.-392+94G>A (n.-392+94G>A) | |
| X | g.86047392C>T | CA2579656298 | CHM | c.49+92G>A (n.49+92G>A) n.78+92G>A c.-392+92G>A (n.-392+92G>A) | |
| X | g.86047393G>A | CA2694206282 | CHM | c.49+91C>T (n.49+91C>T) n.78+91C>T c.-392+91C>T (n.-392+91C>T) | gnomAD v4 |
| X | g.86047393G>C | CA2694206283 | CHM | c.49+91C>G (n.49+91C>G) n.78+91C>G c.-392+91C>G (n.-392+91C>G) | gnomAD v4 |
| X | g.86047393G= | CA2442509568 | CHM | c.49+91C= (n.49+91C=) n.78+91C= c.-392+91C= (n.-392+91C=) | |
| X | g.86047393G>T | CA332667687 | CHM | c.49+91C>A (n.49+91C>A) n.78+91C>A c.-392+91C>A (n.-392+91C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.86047394A>G | CA2694206284 | CHM | c.49+90T>C (n.49+90T>C) n.78+90T>C c.-392+90T>C (n.-392+90T>C) | gnomAD v4 |
| X | g.86047395T>C | CA2442509569 | CHM | c.49+89A>G (n.49+89A>G) n.78+89A>G c.-392+89A>G (n.-392+89A>G) | dbSNP gnomAD v4 |
| X | g.86047395T= | CA2442509570 | CHM | c.49+89A= (n.49+89A=) n.78+89A= c.-392+89A= (n.-392+89A=) | |
| X | g.86047396G>T | CA2694206285 | CHM | c.49+88C>A (n.49+88C>A) n.78+88C>A c.-392+88C>A (n.-392+88C>A) | gnomAD v4 |
| X | g.86047397T>G | CA332667688 | CHM | c.49+87A>C (n.49+87A>C) n.78+87A>C c.-392+87A>C (n.-392+87A>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.86047397T= | CA2442509571 | CHM | c.49+87A= (n.49+87A=) n.78+87A= c.-392+87A= (n.-392+87A=) | |
| X | g.86047400G>T | CA2694206286 | CHM | c.49+84C>A (n.49+84C>A) n.78+84C>A c.-392+84C>A (n.-392+84C>A) | gnomAD v4 |
| X | g.86047402C>A | CA2694206288 | CHM | c.49+82G>T (n.49+82G>T) n.78+82G>T c.-392+82G>T (n.-392+82G>T) | gnomAD v4 |
| X | g.86047404del | CA2694206287 | CHM | c.49+82del (n.49+82del) n.78+82del c.-392+82del (n.-392+82del) | gnomAD v4 |
| X | g.86047404C>A | CA2694206289 | CHM | c.49+80G>T (n.49+80G>T) n.78+80G>T c.-392+80G>T (n.-392+80G>T) | gnomAD v4 |
| X | g.86047405A>G | CA2694206290 | CHM | c.49+79T>C (n.49+79T>C) n.78+79T>C c.-392+79T>C (n.-392+79T>C) | gnomAD v4 |
| X | g.86047406A>G | CA2694206291 | CHM | c.49+78T>C (n.49+78T>C) n.78+78T>C c.-392+78T>C (n.-392+78T>C) | gnomAD v4 |
| X | g.86047408A= | CA2442509572 | CHM | c.49+76T= (n.49+76T=) n.78+76T= c.-392+76T= (n.-392+76T=) | |
| X | g.86047408A>G | CA332667689 | CHM | c.49+76T>C (n.49+76T>C) n.78+76T>C c.-392+76T>C (n.-392+76T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.86047410T>A | CA2442509574 | CHM | c.49+74A>T (n.49+74A>T) n.78+74A>T c.-392+74A>T (n.-392+74A>T) | dbSNP |
| X | g.86047410T= | CA2442509573 | CHM | c.49+74A= (n.49+74A=) n.78+74A= c.-392+74A= (n.-392+74A=) | |
| X | g.86047411C>A | CA643004317 | CHM | c.49+73G>T (n.49+73G>T) n.78+73G>T c.-392+73G>T (n.-392+73G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.86047411C= | CA2442509575 | CHM | c.49+73G= (n.49+73G=) n.78+73G= c.-392+73G= (n.-392+73G=) | |
| X | g.86047411C>G | CA332667691 | CHM | c.49+73G>C (n.49+73G>C) n.78+73G>C c.-392+73G>C (n.-392+73G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.86047411C>T | CA2579656299 | CHM | c.49+73G>A (n.49+73G>A) n.78+73G>A c.-392+73G>A (n.-392+73G>A) | gnomAD v4 |
| X | g.86047412G>A | CA2579656300 | CHM | c.49+72C>T (n.49+72C>T) n.78+72C>T c.-392+72C>T (n.-392+72C>T) | gnomAD v4 |
| X | g.86047412G>T | CA2694206292 | CHM | c.49+72C>A (n.49+72C>A) n.78+72C>A c.-392+72C>A (n.-392+72C>A) | gnomAD v4 |
| X | g.86047413C>A | CA2694206293 | CHM | c.49+71G>T (n.49+71G>T) n.78+71G>T c.-392+71G>T (n.-392+71G>T) | gnomAD v4 |
| X | g.86047413C>T | CA2579656301 | CHM | c.49+71G>A (n.49+71G>A) n.78+71G>A c.-392+71G>A (n.-392+71G>A) | |
| X | g.86047414C>T | CA2694206294 | CHM | c.49+70G>A (n.49+70G>A) n.78+70G>A c.-392+70G>A (n.-392+70G>A) | gnomAD v4 |
| X | g.86047415A>T | CA2694206295 | CHM | c.49+69T>A (n.49+69T>A) n.78+69T>A c.-392+69T>A (n.-392+69T>A) | gnomAD v4 |
| X | g.86047416C>A | CA2694206296 | CHM | c.49+68G>T (n.49+68G>T) n.78+68G>T c.-392+68G>T (n.-392+68G>T) | gnomAD v4 |