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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109715162_109715163insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC , CM000668.2:g.109715162_109715163insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | GRCh38 |
| NC_000006.11:g.110036365_110036366insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC , CM000668.1:g.110036365_110036366insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | GRCh37 |
| NC_000006.10:g.110143058_110143059insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | NCBI36 |
| NG_007977.1:g.28942_28943insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC , LRG_241:g.28942_28943insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230124.8:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC MANE Select | ENSP00000230124.4:p.Ile51ArgfsTer5 | |
| ENST00000368941.2:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000357937.2:p.Ile51ArgfsTer5 | |
| ENST00000415980.2:c.-224+23661_-224+23662insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000405660.2:n.-224+23661_-224+23662... | |
| ENST00000454215.6:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000412156.2:p.Ile51ArgfsTer5 | |
| ENST00000674532.1:n.321_322insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ||
| ENST00000674557.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000501608.1:p.Ile51ArgfsTer5 | |
| ENST00000674569.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502769.1:p.Ile51ArgfsTer5 | |
| ENST00000674571.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000501633.1:p.Ile51ArgfsTer5 | |
| ENST00000674575.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502276.1:p.Ile51ArgfsTer5 | |
| ENST00000674614.1:n.275_276insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ||
| ENST00000674641.1:c.-56-11947_-56-11946insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000501609.1:n.-56-11947_-56-11946in... | |
| ENST00000674644.1:c.-254-17475_-254-17474insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502201.1:n.-254-17475_-254-17474... | |
| ENST00000674649.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000501669.1:p.Ile51ArgfsTer5 | |
| ENST00000674657.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502314.1:p.Ile51ArgfsTer5 | |
| ENST00000674744.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000501661.1:p.Ile51ArgfsTer5 | |
| ENST00000674778.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502742.1:p.Ile51ArgfsTer5 | |
| ENST00000674783.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502755.1:p.Ile51ArgfsTer5 | |
| ENST00000674830.1:n.122_123insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ||
| ENST00000674884.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502668.1:p.Ile51ArgfsTer5 | |
| ENST00000674930.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502657.1:p.Ile51ArgfsTer5 | |
| ENST00000674933.1:c.-81_-80insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502376.1:n.-81_-80insGGTGCTCAGGT... | |
| ENST00000674956.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000501904.1:p.Ile51ArgfsTer5 | |
| ENST00000675002.1:n.239_240insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ||
| ENST00000675004.1:c.*103_*104insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000501868.1:n.*103_*104insGGTGCTCAG... | |
| ENST00000675009.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502098.1:p.Ile51ArgfsTer5 | |
| ENST00000675096.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502116.1:p.Ile51ArgfsTer5 | |
| ENST00000675122.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000501810.1:p.Ile51ArgfsTer5 | |
| ENST00000675153.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000501682.1:p.Ile51ArgfsTer5 | |
| ENST00000675284.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502758.1:p.Ile51ArgfsTer5 | |
| ENST00000675311.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000501961.1:p.Ile51ArgfsTer5 | |
| ENST00000675426.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000501819.1:p.Ile51ArgfsTer5 | |
| ENST00000675523.1:c.-81_-80insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502384.1:n.-81_-80insGGTGCTCAGGT... | |
| ENST00000675552.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502197.1:p.Ile51ArgfsTer5 | |
| ENST00000675606.1:c.-81_-80insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000501583.1:n.-81_-80insGGTGCTCAGGT... | |
| ENST00000675681.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502705.1:p.Ile51ArgfsTer5 | |
| ENST00000675714.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502561.1:p.Ile51ArgfsTer5 | |
| ENST00000675726.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502452.1:p.Ile51ArgfsTer5 | |
| ENST00000675772.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000501678.1:p.Ile51ArgfsTer5 | |
| ENST00000675831.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502382.1:p.Ile51ArgfsTer5 | |
| ENST00000675844.1:c.-81_-80insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502353.1:n.-81_-80insGGTGCTCAGGT... | |
| ENST00000675847.1:n.275_276insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ||
| ENST00000675887.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502123.1:p.Ile51ArgfsTer5 | |
| ENST00000675973.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502407.1:p.Ile51ArgfsTer5 | |
| ENST00000675991.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502162.1:p.Ile51ArgfsTer5 | |
| ENST00000675994.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502419.1:p.Ile51ArgfsTer5 | |
| ENST00000676021.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502746.1:p.Ile51ArgfsTer5 | |
| ENST00000676037.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502181.1:p.Ile51ArgfsTer5 | |
| ENST00000676136.1:n.291_292insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ||
| ENST00000676435.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502614.1:p.Ile51ArgfsTer5 | |
| ENST00000676442.1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000502595.1:p.Ile51ArgfsTer5 | |
| ENST00000230124.7:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000230124.3:p.Ile51ArgfsTer5 | |
| ENST00000454215.5:c.88_89insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | ENSP00000412156.1:p.Ile30ArgfsTer5 | |
| NM_014845.5:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC , LRG_241t1:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | NP_055660.1:p.Ile51ArgfsTer5 | |
| XM_011536281.1:c.88_89insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | XP_011534583.1:p.Ile30ArgfsTer5 | |
| XM_011536281.3:c.88_89insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | XP_011534583.1:p.Ile30ArgfsTer5 | |
| XM_017011591.2:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | XP_016867080.1:p.Ile51ArgfsTer5 | |
| XM_017011592.1:c.-242_-241insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | XP_016867081.1:n.-242_-241insGGTGCTCAGGTT... | |
| XM_017011593.2:c.-550_-549insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC | XP_016867082.1:n.-550_-549insGGTGCTCAGGTT... | |
| NM_014845.6:c.151_152insGGTGCTCAGGTTGACTGTCCAGTCTGATGGGCAAGAGCGCCCTGCAGAGTTCAGGTCCGACAGTTCCCC MANE Select | NP_055660.1:p.Ile51ArgfsTer5 |