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.64804986_64805021delinsTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCA , CM000673.2:g.64804986_64805021delinsTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCA | GRCh38 |
| NC_000011.9:g.64572458_64572493delinsTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCA , CM000673.1:g.64572458_64572493delinsTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCA | GRCh37 |
| NC_000011.8:g.64329034_64329069delinsTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCA | NCBI36 |
| NG_008929.1:g.11274_11309delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA , LRG_509:g.11274_11309delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | |
| NG_033040.1:g.3221_3256delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377313.7:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000366530.1:n.1365+13_1365+48delins... | |
| ENST00000394374.8:c.*658+13_*658+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000377899.4:n.*658+13_*658+48delins... | |
| ENST00000394376.7:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000377901.3:n.1350+13_1350+48delins... | |
| ENST00000413626.2:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000411218.2:n.1350+13_1350+48delins... | |
| ENST00000424912.2:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000388016.2:n.1350+13_1350+48delins... | |
| ENST00000429702.6:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000402752.2:n.1350+13_1350+48delins... | |
| ENST00000672079.2:c.*446+13_*446+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000500905.2:n.*446+13_*446+48delins... | |
| ENST00000710881.1:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000518530.1:n.1365+13_1365+48delins... | |
| ENST00000394374.7:c.1097+13_1097+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ||
| ENST00000394376.6:c.701+13_701+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ||
| ENST00000478548.3:n.1843+13_1843+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ||
| ENST00000671939.2:n.1312+13_1312+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ||
| ENST00000671965.2:n.1732+13_1732+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ||
| ENST00000312049.11:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000308975.6:n.1350+13_1350+48delins... | |
| ENST00000315422.9:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000323747.4:n.1350+13_1350+48delins... | |
| ENST00000377313.6:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000366530.1:n.1365+13_1365+48delins... | |
| ENST00000440873.6:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000413944.2:n.1350+13_1350+48delins... | |
| ENST00000450708.7:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA MANE Select | ENSP00000394933.3:n.1350+13_1350+48delins... | |
| ENST00000478548.2:n.1851+13_1851+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ||
| ENST00000671939.1:n.1627+13_1627+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ||
| ENST00000672079.1:c.1225+13_1225+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ||
| ENST00000672304.1:c.1476+13_1476+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000500585.1:n.1476+13_1476+48delins... | |
| ENST00000312049.10:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000308975.6:n.1350+13_1350+48delins... | |
| ENST00000315422.8:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000323747.4:n.1350+13_1350+48delins... | |
| ENST00000337652.5:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000337088.1:n.1365+13_1365+48delins... | |
| ENST00000377313.5:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000366530.1:n.1365+13_1365+48delins... | |
| ENST00000377316.6:c.1186-205_1186-170delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000366533.1:n.1186-205_1186-170deli... | |
| ENST00000377321.5:c.1245+13_1245+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000366538.1:n.1245+13_1245+48delins... | |
| ENST00000377326.7:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000366543.3:n.1350+13_1350+48delins... | |
| ENST00000394374.6:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000377899.2:n.1365+13_1365+48delins... | |
| ENST00000394376.5:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ENSP00000377901.1:n.1365+13_1365+48delins... | |
| ENST00000478548.1:n.899+13_899+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | ||
| NM_000244.3:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA , LRG_509t1:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_000235.2:n.1365+13_1365+48delinsTGCACA... | |
| NM_130799.2:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA , LRG_509t2:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_570711.1:n.1350+13_1350+48delinsTGCACA... | |
| NM_130800.2:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_570712.1:n.1365+13_1365+48delinsTGCACA... | |
| NM_130801.2:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_570713.1:n.1365+13_1365+48delinsTGCACA... | |
| NM_130802.2:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_570714.1:n.1365+13_1365+48delinsTGCACA... | |
| NM_130803.2:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_570715.1:n.1365+13_1365+48delinsTGCACA... | |
| NM_130804.2:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_570716.1:n.1365+13_1365+48delinsTGCACA... | |
| XM_005274001.3:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | XP_005274058.1:n.1350+13_1350+48delinsTGC... | |
| XM_011545040.1:c.1476+13_1476+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | XP_011543342.1:n.1476+13_1476+48delinsTGC... | |
| XM_011545041.1:c.1476+13_1476+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | XP_011543343.1:n.1476+13_1476+48delinsTGC... | |
| XM_011545042.1:c.1476+13_1476+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | XP_011543344.1:n.1476+13_1476+48delinsTGC... | |
| XM_005274001.4:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | XP_005274058.1:n.1350+13_1350+48delinsTGC... | |
| XM_011545041.2:c.1476+13_1476+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | XP_011543343.1:n.1476+13_1476+48delinsTGC... | |
| XM_011545042.3:c.1476+13_1476+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | XP_011543344.1:n.1476+13_1476+48delinsTGC... | |
| XM_017017765.1:c.1491+13_1491+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | XP_016873254.1:n.1491+13_1491+48delinsTGC... | |
| XM_017017766.1:c.1491+13_1491+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | XP_016873255.1:n.1491+13_1491+48delinsTGC... | |
| XM_017017767.2:c.1491+13_1491+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | XP_016873256.1:n.1491+13_1491+48delinsTGC... | |
| XM_017017768.1:c.1491+13_1491+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | XP_016873257.1:n.1491+13_1491+48delinsTGC... | |
| XM_017017769.1:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | XP_016873258.1:n.1350+13_1350+48delinsTGC... | |
| XM_017017770.2:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | XP_016873259.1:n.1350+13_1350+48delinsTGC... | |
| NM_001370251.1:c.1476+13_1476+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_001357180.1:n.1476+13_1476+48delinsTGC... | |
| NM_001370259.2:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA MANE Select | NP_001357188.2:n.1350+13_1350+48delinsTGC... | |
| NM_001370260.1:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_001357189.1:n.1350+13_1350+48delinsTGC... | |
| NM_001370261.1:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_001357190.1:n.1350+13_1350+48delinsTGC... | |
| NM_001370262.1:c.1245+13_1245+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_001357191.1:n.1245+13_1245+48delinsTGC... | |
| NM_001370263.1:c.1245+13_1245+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_001357192.1:n.1245+13_1245+48delinsTGC... | |
| NM_000244.4:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_000235.3:n.1365+13_1365+48delinsTGCACA... | |
| NM_001370251.2:c.1476+13_1476+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_001357180.2:n.1476+13_1476+48delinsTGC... | |
| NM_001370260.2:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_001357189.2:n.1350+13_1350+48delinsTGC... | |
| NM_001370261.2:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_001357190.2:n.1350+13_1350+48delinsTGC... | |
| NM_001370262.2:c.1245+13_1245+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_001357191.2:n.1245+13_1245+48delinsTGC... | |
| NM_001370263.2:c.1245+13_1245+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_001357192.2:n.1245+13_1245+48delinsTGC... | |
| NM_130799.3:c.1350+13_1350+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_570711.2:n.1350+13_1350+48delinsTGCACA... | |
| NM_130800.3:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_570712.2:n.1365+13_1365+48delinsTGCACA... | |
| NM_130801.3:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_570713.2:n.1365+13_1365+48delinsTGCACA... | |
| NM_130802.3:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_570714.2:n.1365+13_1365+48delinsTGCACA... | |
| NM_130803.3:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_570715.2:n.1365+13_1365+48delinsTGCACA... | |
| NM_130804.3:c.1365+13_1365+48delinsTGCACAGAGGTCTGGGCACTACAGGTGGTGACAGCA | NP_570716.2:n.1365+13_1365+48delinsTGCACA... |