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_000011.10:g.64805005_64805107delinsGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGC , CM000673.2:g.64805005_64805107delinsGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGC | GRCh38 |
| NC_000011.9:g.64572477_64572579delinsGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGC , CM000673.1:g.64572477_64572579delinsGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGC | GRCh37 |
| NC_000011.8:g.64329053_64329155delinsGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGC | NCBI36 |
| NG_033040.1:g.3135_3237delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377313.7:c.1292_1365+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000394374.8:c.*585_*658+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000394376.7:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000413626.2:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000424912.2:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000429702.6:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000672079.2:c.*373_*446+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000710881.1:c.1292_1365+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000394374.7:c.1024_1097+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000394376.6:c.628_701+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000478548.3:n.1770_1843+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000671939.2:n.1239_1312+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000671965.2:n.1659_1732+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000312049.11:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000315422.9:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000377313.6:c.1292_1365+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000440873.6:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000450708.7:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000478548.2:n.1778_1851+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000671939.1:n.1554_1627+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000672079.1:c.1152_1225+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000672304.1:c.1403_1476+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000312049.10:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000315422.8:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000337652.5:c.1292_1365+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000377313.5:c.1292_1365+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000377316.6:c.1186-291_1186-189delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ENSP00000366533.1:n.1186-291_1186-189deli... | |
| ENST00000377321.5:c.1172_1245+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000377326.7:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000394374.6:c.1292_1365+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000394376.5:c.1292_1365+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| ENST00000478548.1:n.826_899+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| XM_005274001.3:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| XM_011545040.1:c.1403_1476+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| XM_011545041.1:c.1403_1476+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| XM_011545042.1:c.1403_1476+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| XM_005274001.4:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| XM_011545041.2:c.1403_1476+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| XM_011545042.3:c.1403_1476+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| XM_017017765.1:c.1418_1491+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| XM_017017766.1:c.1418_1491+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| XM_017017767.2:c.1418_1491+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| XM_017017768.1:c.1418_1491+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| XM_017017769.1:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| XM_017017770.2:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| NM_001370259.2:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| NM_000244.4:c.1292_1365+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| NM_001370251.2:c.1403_1476+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| NM_001370260.2:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| NM_001370261.2:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| NM_001370262.2:c.1172_1245+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| NM_001370263.2:c.1172_1245+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| NM_130799.3:c.1277_1350+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| NM_130800.3:c.1292_1365+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| NM_130801.3:c.1292_1365+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| NM_130802.3:c.1292_1365+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| NM_130803.3:c.1292_1365+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC | ||
| NM_130804.3:c.1292_1365+29delinsGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGC |