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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41345110_41345111insACAGGATTCTTGCCACTACATAAGT , CM000685.2:g.41345110_41345111insACAGGATTCTTGCCACTACATAAGT | GRCh38 |
| NC_000023.10:g.41204363_41204364insACAGGATTCTTGCCACTACATAAGT , CM000685.1:g.41204363_41204364insACAGGATTCTTGCCACTACATAAGT | GRCh37 |
| NC_000023.9:g.41089307_41089308insACAGGATTCTTGCCACTACATAAGT | NCBI36 |
| NG_012830.1:g.16713_16714insACAGGATTCTTGCCACTACATAAGT | |
| NG_012830.2:g.16713_16714insACAGGATTCTTGCCACTACATAAGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642322.2:c.1158-70_1158-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000496052.2:n.1158-70_1158-69insACA... | |
| ENST00000399959.7:c.1023-70_1023-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000382840.3:n.1023-70_1023-69insACA... | |
| ENST00000441189.4:c.927-70_927-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000414281.3:n.927-70_927-69insACAGG... | |
| ENST00000457138.7:c.978-70_978-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000392494.2:n.978-70_978-69insACAGG... | |
| ENST00000629496.3:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000487224.1:n.1026-70_1026-69insACA... | |
| ENST00000642161.1:n.3225-70_3225-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000642322.1:c.468-70_468-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000496052.1:n.468-70_468-69insACAGG... | |
| ENST00000642424.1:c.468-70_468-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000496356.1:n.468-70_468-69insACAGG... | |
| ENST00000642589.1:n.4348-70_4348-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000642597.1:n.1200-70_1200-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000642687.1:n.1059-70_1059-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000642722.1:n.1859-70_1859-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000642763.1:n.1917-70_1917-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000642793.1:c.*475-70_*475-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000493976.1:n.*475-70_*475-69insACA... | |
| ENST00000642801.1:n.675-70_675-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000643820.1:n.302-70_302-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000643963.1:c.*308-70_*308-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000495264.1:n.*308-70_*308-69insACA... | |
| ENST00000644073.1:c.984-70_984-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000493475.1:n.984-70_984-69insACAGG... | |
| ENST00000644074.1:c.1023-70_1023-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000496663.1:n.1023-70_1023-69insACA... | |
| ENST00000644109.1:c.1188-70_1188-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000494952.1:n.1188-70_1188-69insACA... | |
| ENST00000644307.1:n.1117-70_1117-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000644513.1:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000493819.1:n.1026-70_1026-69insACA... | |
| ENST00000644677.1:c.909-70_909-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000496524.1:n.909-70_909-69insACAGG... | |
| ENST00000644876.2:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT MANE Select | ENSP00000494040.1:n.1026-70_1026-69insACA... | |
| ENST00000644958.1:n.2687-70_2687-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000645080.1:c.*2248-70_*2248-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000494767.1:n.*2248-70_*2248-69insA... | |
| ENST00000645120.1:n.2521-70_2521-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000645338.1:n.1117-70_1117-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000645380.1:n.2411-70_2411-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000645561.1:n.2202-70_2202-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000645574.1:n.3890-70_3890-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000645589.1:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000494588.1:n.1026-70_1026-69insACA... | |
| ENST00000646093.1:n.210-70_210-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000646107.1:c.909-70_909-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000494518.1:n.909-70_909-69insACAGG... | |
| ENST00000646122.1:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000496222.1:n.1026-70_1026-69insACA... | |
| ENST00000646196.1:n.1995-70_1995-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000646223.1:c.*1019-70_*1019-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000496043.1:n.*1019-70_*1019-69insA... | |
| ENST00000646319.1:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000495377.1:n.1026-70_1026-69insACA... | |
| ENST00000646390.1:n.3314-70_3314-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000646627.1:c.468-70_468-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000493795.1:n.468-70_468-69insACAGG... | |
| ENST00000646679.1:c.468-70_468-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000494887.1:n.468-70_468-69insACAGG... | |
| ENST00000646822.1:n.2088-70_2088-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000646940.1:n.1200-70_1200-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000647286.1:n.1124-70_1124-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000399959.6:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000382840.2:n.1026-70_1026-69insACA... | |
| ENST00000441189.3:c.341-2530_341-2529insACAGGATTCTTGCCACTACATAAGT | ENSP00000414281.2:n.341-2530_341-2529insA... | |
| ENST00000457138.6:c.978-70_978-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000392494.2:n.978-70_978-69insACAGG... | |
| ENST00000478993.5:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000478443.1:n.1026-70_1026-69insACA... | |
| ENST00000542215.5:n.1074-70_1074-69insACAGGATTCTTGCCACTACATAAGT | ||
| ENST00000625837.2:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000486306.1:n.1026-70_1026-69insACA... | |
| ENST00000626301.2:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000486443.1:n.1026-70_1026-69insACA... | |
| ENST00000629496.2:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000487224.1:n.1026-70_1026-69insACA... | |
| ENST00000629785.2:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000486516.1:n.1026-70_1026-69insACA... | |
| ENST00000630255.2:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000486720.1:n.1026-70_1026-69insACA... | |
| ENST00000630370.2:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000487062.1:n.1026-70_1026-69insACA... | |
| ENST00000630858.2:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | ENSP00000486514.1:n.1026-70_1026-69insACA... | |
| NM_001193416.2:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | NP_001180345.1:n.1026-70_1026-69insACAGGA... | |
| NM_001193417.2:c.978-70_978-69insACAGGATTCTTGCCACTACATAAGT | NP_001180346.1:n.978-70_978-69insACAGGATT... | |
| NM_001356.4:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | NP_001347.3:n.1026-70_1026-69insACAGGATTC... | |
| NR_126093.1:n.1971-70_1971-69insACAGGATTCTTGCCACTACATAAGT | ||
| XM_011543892.1:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | XP_011542194.1:n.1026-70_1026-69insACAGGA... | |
| NM_001363819.1:c.468-70_468-69insACAGGATTCTTGCCACTACATAAGT | NP_001350748.1:n.468-70_468-69insACAGGATT... | |
| XM_011543892.2:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | XP_011542194.1:n.1026-70_1026-69insACAGGA... | |
| XM_017029313.1:c.468-70_468-69insACAGGATTCTTGCCACTACATAAGT | XP_016884802.1:n.468-70_468-69insACAGGATT... | |
| NM_001193416.3:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT | NP_001180345.1:n.1026-70_1026-69insACAGGA... | |
| NM_001193417.3:c.978-70_978-69insACAGGATTCTTGCCACTACATAAGT | NP_001180346.1:n.978-70_978-69insACAGGATT... | |
| NM_001356.5:c.1026-70_1026-69insACAGGATTCTTGCCACTACATAAGT MANE Select | NP_001347.3:n.1026-70_1026-69insACAGGATTC... |