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 |
|---|---|---|---|---|---|
| Y | g.14648947G>A | CA1139253832 | NLGN4Y | c.472+26356G>A (n.472+26356G>A) c.-92-70512G>A (n.-92-70512G>A) c.411+26356G>A n.724+26356G>A n.946+26356G>A n.651+26356G>A c.-58+26356G>A (n.-58+26356G>A) | gnomAD v3 gnomAD v4 |
| Y | g.14648969C>T | CA1139253833 | NLGN4Y | c.472+26378C>T (n.472+26378C>T) c.-92-70490C>T (n.-92-70490C>T) c.411+26378C>T n.724+26378C>T n.946+26378C>T n.651+26378C>T c.-58+26378C>T (n.-58+26378C>T) | gnomAD v3 gnomAD v4 |
| Y | g.14648983C>A | CA2503198087 | NLGN4Y | c.472+26392C>A (n.472+26392C>A) c.-92-70476C>A (n.-92-70476C>A) c.411+26392C>A n.724+26392C>A n.946+26392C>A n.651+26392C>A c.-58+26392C>A (n.-58+26392C>A) | |
| Y | g.14648991C>A | CA2551665306 | NLGN4Y | c.472+26400C>A (n.472+26400C>A) c.-92-70468C>A (n.-92-70468C>A) c.411+26400C>A n.724+26400C>A n.946+26400C>A n.651+26400C>A c.-58+26400C>A (n.-58+26400C>A) | |
| Y | g.14648994G>A | CA1139253840 | NLGN4Y | c.472+26403G>A (n.472+26403G>A) c.-92-70465G>A (n.-92-70465G>A) c.411+26403G>A n.724+26403G>A n.946+26403G>A n.651+26403G>A c.-58+26403G>A (n.-58+26403G>A) | gnomAD v3 gnomAD v4 |
| Y | g.14648996_14648997del | CA2506643601 | NLGN4Y | c.472+26405_472+26406del (n.472+26405_472+26406del) c.-92-70463_-92-70462del (n.-92-70463_-92-70462del) c.411+26405_411+26406del n.724+26405_724+26406del n.946+26405_946+26406del n.651+26405_651+26406del c.-58+26405_-58+26406del (n.-58+26405_-58+26406del) | |
| Y | g.14648998_14649044delinsCTGTCTCAAAAAAAAAAAAAAAATTGATATTTTCTTTCCCCCACAGT | CA2470671134 | NLGN4Y | c.472+26407_472+26453delinsCTGTCTCAAAAAAAAAAAAAAAATTGATATTTTCTTTCCCCCACAGT (n.472+26407_472+26453delinsCTGTCTCAAAAAAAAAAAAAAAATTGATATTTTCTTTCCCCCACAGT) c.-92-70461_-92-70415delinsCTGTCTCAAAAAAAAAAAAAAAATTGATATTTTCTTTCCCCCACAGT (n.-92-70461_-92-70415delinsCTGTCTCAAAAAAAAAAAAAAAATTGATATTTTCTTTCCCCCACAGT) c.411+26407_411+26453delinsCTGTCTCAAAAAAAAAAAAAAAATTGATATTTTCTTTCCCCCACAGT n.724+26407_724+26453delinsCTGTCTCAAAAAAAAAAAAAAAATTGATATTTTCTTTCCCCCACAGT n.946+26407_946+26453delinsCTGTCTCAAAAAAAAAAAAAAAATTGATATTTTCTTTCCCCCACAGT n.651+26407_651+26453delinsCTGTCTCAAAAAAAAAAAAAAAATTGATATTTTCTTTCCCCCACAGT c.-58+26407_-58+26453delinsCTGTCTCAAAAAAAAAAAAAAAATTGATATTTTCTTTCCCCCACAGT (n.-58+26407_-58+26453delinsCTGTCTCAAAAAAAAAAAAAAAATTGATATTTTCTTTCCCCCACAGT) | |
| Y | g.14649003_14649048del | CA1139253847 | NLGN4Y | c.472+26412_472+26457del (n.472+26412_472+26457del) c.-92-70456_-92-70411del (n.-92-70456_-92-70411del) c.411+26412_411+26457del n.724+26412_724+26457del n.946+26412_946+26457del n.651+26412_651+26457del c.-58+26412_-58+26457del (n.-58+26412_-58+26457del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.14648999_14649000insCC | CA2562686005 | NLGN4Y | c.472+26408_472+26409insCC (n.472+26408_472+26409insCC) c.-92-70460_-92-70459insCC (n.-92-70460_-92-70459insCC) c.411+26408_411+26409insCC n.724+26408_724+26409insCC n.946+26408_946+26409insCC n.651+26408_651+26409insCC c.-58+26408_-58+26409insCC (n.-58+26408_-58+26409insCC) | |
| Y | g.14649003T>C | CA1139253848 | NLGN4Y | c.472+26412T>C (n.472+26412T>C) c.-92-70456T>C (n.-92-70456T>C) c.411+26412T>C n.724+26412T>C n.946+26412T>C n.651+26412T>C c.-58+26412T>C (n.-58+26412T>C) | gnomAD v3 gnomAD v4 |
| Y | g.14649003_14649004insA | CA2529763202 | NLGN4Y | c.472+26412_472+26413insA (n.472+26412_472+26413insA) c.-92-70456_-92-70455insA (n.-92-70456_-92-70455insA) c.411+26412_411+26413insA n.724+26412_724+26413insA n.946+26412_946+26413insA n.651+26412_651+26413insA c.-58+26412_-58+26413insA (n.-58+26412_-58+26413insA) | |
| Y | g.14649004C>A | CA337754397 | NLGN4Y | c.472+26413C>A (n.472+26413C>A) c.-92-70455C>A (n.-92-70455C>A) c.411+26413C>A n.724+26413C>A n.946+26413C>A n.651+26413C>A c.-58+26413C>A (n.-58+26413C>A) | dbSNP |
| Y | g.14649004C= | CA2470671136 | NLGN4Y | c.472+26413C= (n.472+26413C=) c.-92-70455C= (n.-92-70455C=) c.411+26413C= n.724+26413C= n.946+26413C= n.651+26413C= c.-58+26413C= (n.-58+26413C=) | |
| Y | g.14649004_14649005delinsCA | CA2470671135 | NLGN4Y | c.472+26413_472+26414delinsCA (n.472+26413_472+26414delinsCA) c.-92-70455_-92-70454delinsCA (n.-92-70455_-92-70454delinsCA) c.411+26413_411+26414delinsCA n.724+26413_724+26414delinsCA n.946+26413_946+26414delinsCA n.651+26413_651+26414delinsCA c.-58+26413_-58+26414delinsCA (n.-58+26413_-58+26414delinsCA) | |
| Y | g.14649020dup | CA1139253858 | NLGN4Y | c.472+26429dup (n.472+26429dup) c.-92-70439dup (n.-92-70439dup) c.411+26429dup n.724+26429dup n.946+26429dup n.651+26429dup c.-58+26429dup (n.-58+26429dup) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.14649019_14649020dup | CA2505851766 | NLGN4Y | c.472+26428_472+26429dup (n.472+26428_472+26429dup) c.-92-70440_-92-70439dup (n.-92-70440_-92-70439dup) c.411+26428_411+26429dup n.724+26428_724+26429dup n.946+26428_946+26429dup n.651+26428_651+26429dup c.-58+26428_-58+26429dup (n.-58+26428_-58+26429dup) | |
| Y | g.14649018_14649020dup | CA2520154402 | NLGN4Y | c.472+26427_472+26429dup (n.472+26427_472+26429dup) c.-92-70441_-92-70439dup (n.-92-70441_-92-70439dup) c.411+26427_411+26429dup n.724+26427_724+26429dup n.946+26427_946+26429dup n.651+26427_651+26429dup c.-58+26427_-58+26429dup (n.-58+26427_-58+26429dup) | |
| Y | g.14649020del | CA1139253867 | NLGN4Y | c.472+26429del (n.472+26429del) c.-92-70439del (n.-92-70439del) c.411+26429del n.724+26429del n.946+26429del n.651+26429del c.-58+26429del (n.-58+26429del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.14649019_14649020del | CA2559102686 | NLGN4Y | c.472+26428_472+26429del (n.472+26428_472+26429del) c.-92-70440_-92-70439del (n.-92-70440_-92-70439del) c.411+26428_411+26429del n.724+26428_724+26429del n.946+26428_946+26429del n.651+26428_651+26429del c.-58+26428_-58+26429del (n.-58+26428_-58+26429del) | |
| Y | g.14649018_14649020del | CA2548558028 | NLGN4Y | c.472+26427_472+26429del (n.472+26427_472+26429del) c.-92-70441_-92-70439del (n.-92-70441_-92-70439del) c.411+26427_411+26429del n.724+26427_724+26429del n.946+26427_946+26429del n.651+26427_651+26429del c.-58+26427_-58+26429del (n.-58+26427_-58+26429del) | |
| Y | g.14649016_14649020del | CA2513176708 | NLGN4Y | c.472+26425_472+26429del (n.472+26425_472+26429del) c.-92-70443_-92-70439del (n.-92-70443_-92-70439del) c.411+26425_411+26429del n.724+26425_724+26429del n.946+26425_946+26429del n.651+26425_651+26429del c.-58+26425_-58+26429del (n.-58+26425_-58+26429del) | |
| Y | g.14649017A= | CA2470671137 | NLGN4Y | c.472+26426A= (n.472+26426A=) c.-92-70442A= (n.-92-70442A=) c.411+26426A= n.724+26426A= n.946+26426A= n.651+26426A= c.-58+26426A= (n.-58+26426A=) | |
| Y | g.14649017A>G | CA337754398 | NLGN4Y | c.472+26426A>G (n.472+26426A>G) c.-92-70442A>G (n.-92-70442A>G) c.411+26426A>G n.724+26426A>G n.946+26426A>G n.651+26426A>G c.-58+26426A>G (n.-58+26426A>G) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.14649019A= | CA2470671138 | NLGN4Y | c.472+26428A= (n.472+26428A=) c.-92-70440A= (n.-92-70440A=) c.411+26428A= n.724+26428A= n.946+26428A= n.651+26428A= c.-58+26428A= (n.-58+26428A=) | |
| Y | g.14649019A>G | CA337754399 | NLGN4Y | c.472+26428A>G (n.472+26428A>G) c.-92-70440A>G (n.-92-70440A>G) c.411+26428A>G n.724+26428A>G n.946+26428A>G n.651+26428A>G c.-58+26428A>G (n.-58+26428A>G) | dbSNP |
| Y | g.14649021T>A | CA2541385011 | NLGN4Y | c.472+26430T>A (n.472+26430T>A) c.-92-70438T>A (n.-92-70438T>A) c.411+26430T>A n.724+26430T>A n.946+26430T>A n.651+26430T>A c.-58+26430T>A (n.-58+26430T>A) | gnomAD v3 gnomAD v4 |
| Y | g.14649023G>A | CA1139253870 | NLGN4Y | c.472+26432G>A (n.472+26432G>A) c.-92-70436G>A (n.-92-70436G>A) c.411+26432G>A n.724+26432G>A n.946+26432G>A n.651+26432G>A c.-58+26432G>A (n.-58+26432G>A) | |
| Y | g.14649023G>T | CA2533501852 | NLGN4Y | c.472+26432G>T (n.472+26432G>T) c.-92-70436G>T (n.-92-70436G>T) c.411+26432G>T n.724+26432G>T n.946+26432G>T n.651+26432G>T c.-58+26432G>T (n.-58+26432G>T) | |
| Y | g.14649026A= | CA2470671139 | NLGN4Y | c.472+26435A= (n.472+26435A=) c.-92-70433A= (n.-92-70433A=) c.411+26435A= n.724+26435A= n.946+26435A= n.651+26435A= c.-58+26435A= (n.-58+26435A=) | |
| Y | g.14649026A>T | CA2470671140 | NLGN4Y | c.472+26435A>T (n.472+26435A>T) c.-92-70433A>T (n.-92-70433A>T) c.411+26435A>T n.724+26435A>T n.946+26435A>T n.651+26435A>T c.-58+26435A>T (n.-58+26435A>T) | dbSNP |
| Y | g.14649030T>C | CA2505322435 | NLGN4Y | c.472+26439T>C (n.472+26439T>C) c.-92-70429T>C (n.-92-70429T>C) c.411+26439T>C n.724+26439T>C n.946+26439T>C n.651+26439T>C c.-58+26439T>C (n.-58+26439T>C) | |
| Y | g.14649031C>A | CA337754400 | NLGN4Y | c.472+26440C>A (n.472+26440C>A) c.-92-70428C>A (n.-92-70428C>A) c.411+26440C>A n.724+26440C>A n.946+26440C>A n.651+26440C>A c.-58+26440C>A (n.-58+26440C>A) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.14649031C= | CA2470671141 | NLGN4Y | c.472+26440C= (n.472+26440C=) c.-92-70428C= (n.-92-70428C=) c.411+26440C= n.724+26440C= n.946+26440C= n.651+26440C= c.-58+26440C= (n.-58+26440C=) | |
| Y | g.14649031_14649032delinsCT | CA2470671142 | NLGN4Y | c.472+26440_472+26441delinsCT (n.472+26440_472+26441delinsCT) c.-92-70428_-92-70427delinsCT (n.-92-70428_-92-70427delinsCT) c.411+26440_411+26441delinsCT n.724+26440_724+26441delinsCT n.946+26440_946+26441delinsCT n.651+26440_651+26441delinsCT c.-58+26440_-58+26441delinsCT (n.-58+26440_-58+26441delinsCT) | |
| Y | g.14649034del | CA1139253889 | NLGN4Y | c.472+26443del (n.472+26443del) c.-92-70425del (n.-92-70425del) c.411+26443del n.724+26443del n.946+26443del n.651+26443del c.-58+26443del (n.-58+26443del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.14649037C>A | CA337754401 | NLGN4Y | c.472+26446C>A (n.472+26446C>A) c.-92-70422C>A (n.-92-70422C>A) c.411+26446C>A n.724+26446C>A n.946+26446C>A n.651+26446C>A c.-58+26446C>A (n.-58+26446C>A) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.14649037C= | CA2470671143 | NLGN4Y | c.472+26446C= (n.472+26446C=) c.-92-70422C= (n.-92-70422C=) c.411+26446C= n.724+26446C= n.946+26446C= n.651+26446C= c.-58+26446C= (n.-58+26446C=) |