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_000001.11:g.45331057_45331059delinsCCT , CM000663.2:g.45331057_45331059delinsCCT | GRCh38 |
| NC_000001.10:g.45796729_45796731delinsCCT , CM000663.1:g.45796729_45796731delinsCCT | GRCh37 |
| NC_000001.9:g.45569316_45569318delinsCCT | NCBI36 |
| NG_008189.1:g.14412_14414delinsAGG , LRG_220:g.14412_14414delinsAGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412971.6:c.1008+123_1008+125delinsAGG | ENSP00000410263.2:n.1008+123_1008+125deli... | |
| ENST00000435155.2:c.1425+123_1425+125delinsAGG | ENSP00000403655.2:n.1425+123_1425+125deli... | |
| ENST00000467459.6:c.*254+123_*254+125delinsAGG | ENSP00000435889.2:n.*254+123_*254+125deli... | |
| ENST00000483127.2:c.1410+123_1410+125delinsAGG | ENSP00000436469.2:n.1410+123_1410+125deli... | |
| ENST00000485271.6:c.1392+123_1392+125delinsAGG | ENSP00000431264.2:n.1392+123_1392+125deli... | |
| ENST00000529892.6:c.1245+123_1245+125delinsAGG | ENSP00000432528.2:n.1245+123_1245+125deli... | |
| ENST00000533178.6:c.*721+123_*721+125delinsAGG | ENSP00000436430.2:n.*721+123_*721+125deli... | |
| ENST00000672314.2:c.1392+123_1392+125delinsAGG | ENSP00000500828.2:n.1392+123_1392+125deli... | |
| ENST00000710952.2:c.1476+123_1476+125delinsAGG MANE Plus Clinical | ENSP00000518552.2:n.1476+123_1476+125deli... | |
| ENST00000672818.3:c.1467+123_1467+125delinsAGG | ENSP00000500891.1:n.1467+123_1467+125deli... | |
| ENST00000456914.7:c.1392+123_1392+125delinsAGG MANE Select | ENSP00000407590.2:n.1392+123_1392+125deli... | |
| ENST00000671898.1:c.1980+123_1980+125delinsAGG | ENSP00000499896.1:n.1980+123_1980+125deli... | |
| ENST00000672011.1:c.*721+123_*721+125delinsAGG | ENSP00000500418.1:n.*721+123_*721+125deli... | |
| ENST00000672314.1:c.1392+123_1392+125delinsAGG | ENSP00000500828.1:n.1392+123_1392+125deli... | |
| ENST00000672818.2:c.1467+123_1467+125delinsAGG | ENSP00000500891.1:n.1467+123_1467+125deli... | |
| ENST00000673134.1:c.*1089+123_*1089+125delinsAGG | ENSP00000500526.1:n.*1089+123_*1089+125de... | |
| ENST00000354383.10:c.1395+123_1395+125delinsAGG | ENSP00000346354.6:n.1395+123_1395+125deli... | |
| ENST00000355498.6:c.1392+123_1392+125delinsAGG | ENSP00000347685.2:n.1392+123_1392+125deli... | |
| ENST00000372098.7:c.1467+123_1467+125delinsAGG | ENSP00000361170.3:n.1467+123_1467+125deli... | |
| ENST00000372104.5:c.1392+123_1392+125delinsAGG | ENSP00000361176.1:n.1392+123_1392+125deli... | |
| ENST00000372110.7:c.1437+123_1437+125delinsAGG | ENSP00000361182.3:n.1437+123_1437+125deli... | |
| ENST00000372115.7:c.1434+123_1434+125delinsAGG | ENSP00000361187.3:n.1434+123_1434+125deli... | |
| ENST00000448481.5:c.1425+123_1425+125delinsAGG | ENSP00000409718.1:n.1425+123_1425+125deli... | |
| ENST00000450313.5:c.1476+123_1476+125delinsAGG | ENSP00000408176.1:n.1476+123_1476+125deli... | |
| ENST00000456914.6:c.1392+123_1392+125delinsAGG | ENSP00000407590.2:n.1392+123_1392+125deli... | |
| ENST00000467459.5:c.809+123_809+125delinsAGG | ENSP00000435889.1:n.809+123_809+125delins... | |
| ENST00000475516.5:c.*1205+123_*1205+125delinsAGG | ENSP00000433843.1:n.*1205+123_*1205+125de... | |
| ENST00000481571.5:c.*1205+123_*1205+125delinsAGG | ENSP00000436597.1:n.*1205+123_*1205+125de... | |
| ENST00000482094.5:n.713+123_713+125delinsAGG | ||
| ENST00000485271.5:c.89+123_89+125delinsAGG | ||
| ENST00000488731.6:c.477+123_477+125delinsAGG | ENSP00000432330.1:n.477+123_477+125delins... | |
| ENST00000528013.6:c.1434+123_1434+125delinsAGG | ENSP00000433130.2:n.1434+123_1434+125deli... | |
| ENST00000529892.5:c.467+123_467+125delinsAGG | ||
| ENST00000529984.5:c.477+123_477+125delinsAGG | ENSP00000437093.1:n.477+123_477+125delins... | |
| ENST00000531105.5:c.116-1622_116-1620delinsAGG | ENSP00000431292.1:n.116-1622_116-1620deli... | |
| ENST00000533178.5:c.1021+123_1021+125delinsAGG | ENSP00000436430.1:n.1021+123_1021+125deli... | |
| NM_001048171.1:c.1434+123_1434+125delinsAGG | NP_001041636.1:n.1434+123_1434+125delinsA... | |
| NM_001048172.1:c.1395+123_1395+125delinsAGG | NP_001041637.1:n.1395+123_1395+125delinsA... | |
| NM_001048173.1:c.1392+123_1392+125delinsAGG | NP_001041638.1:n.1392+123_1392+125delinsA... | |
| NM_001048174.1:c.1392+123_1392+125delinsAGG | NP_001041639.1:n.1392+123_1392+125delinsA... | |
| NM_001128425.1:c.1476+123_1476+125delinsAGG , LRG_220t1:c.1476+123_1476+125delinsAGG | NP_001121897.1:n.1476+123_1476+125delinsA... | |
| NM_001293190.1:c.1437+123_1437+125delinsAGG | NP_001280119.1:n.1437+123_1437+125delinsA... | |
| NM_001293191.1:c.1425+123_1425+125delinsAGG | NP_001280120.1:n.1425+123_1425+125delinsA... | |
| NM_001293192.1:c.1116+123_1116+125delinsAGG | NP_001280121.1:n.1116+123_1116+125delinsA... | |
| NM_001293195.1:c.1392+123_1392+125delinsAGG | NP_001280124.1:n.1392+123_1392+125delinsA... | |
| NM_001293196.1:c.1116+123_1116+125delinsAGG | NP_001280125.1:n.1116+123_1116+125delinsA... | |
| NM_012222.2:c.1467+123_1467+125delinsAGG | NP_036354.1:n.1467+123_1467+125delinsAGG | |
| XM_011541497.1:c.1452+123_1452+125delinsAGG | XP_011539799.1:n.1452+123_1452+125delinsA... | |
| XM_011541498.1:c.1434+123_1434+125delinsAGG | XP_011539800.1:n.1434+123_1434+125delinsA... | |
| XM_011541499.1:c.1434+123_1434+125delinsAGG | XP_011539801.1:n.1434+123_1434+125delinsA... | |
| XM_011541500.1:c.1434+123_1434+125delinsAGG | XP_011539802.1:n.1434+123_1434+125delinsA... | |
| XM_011541501.1:c.1434+123_1434+125delinsAGG | XP_011539803.1:n.1434+123_1434+125delinsA... | |
| XM_011541502.1:c.1434+123_1434+125delinsAGG | XP_011539804.1:n.1434+123_1434+125delinsA... | |
| XM_011541503.1:c.1434+123_1434+125delinsAGG | XP_011539805.1:n.1434+123_1434+125delinsA... | |
| XM_011541504.1:c.1425+123_1425+125delinsAGG | XP_011539806.1:n.1425+123_1425+125delinsA... | |
| XM_011541505.1:c.1014+123_1014+125delinsAGG | XP_011539807.1:n.1014+123_1014+125delinsA... | |
| XM_011541506.1:c.1014+123_1014+125delinsAGG | XP_011539808.1:n.1014+123_1014+125delinsA... | |
| XM_011541507.1:c.1005+123_1005+125delinsAGG | XP_011539809.1:n.1005+123_1005+125delinsA... | |
| XM_011541508.1:c.1020+123_1020+125delinsAGG | XP_011539810.1:n.1020+123_1020+125delinsA... | |
| XR_946658.1:n.1523+123_1523+125delinsAGG | ||
| NM_001350650.1:c.1047+123_1047+125delinsAGG | NP_001337579.1:n.1047+123_1047+125delinsA... | |
| NM_001350651.1:c.1047+123_1047+125delinsAGG | NP_001337580.1:n.1047+123_1047+125delinsA... | |
| NR_146882.1:n.1650+123_1650+125delinsAGG | ||
| NR_146883.1:n.1464+123_1464+125delinsAGG | ||
| XM_011541497.3:c.1452+123_1452+125delinsAGG | XP_011539799.1:n.1452+123_1452+125delinsA... | |
| XM_011541500.3:c.1434+123_1434+125delinsAGG | XP_011539802.1:n.1434+123_1434+125delinsA... | |
| XM_011541501.2:c.1434+123_1434+125delinsAGG | XP_011539803.1:n.1434+123_1434+125delinsA... | |
| XM_011541502.2:c.1434+123_1434+125delinsAGG | XP_011539804.1:n.1434+123_1434+125delinsA... | |
| XM_011541503.2:c.1434+123_1434+125delinsAGG | XP_011539805.1:n.1434+123_1434+125delinsA... | |
| XM_011541504.2:c.1425+123_1425+125delinsAGG | XP_011539806.1:n.1425+123_1425+125delinsA... | |
| XM_011541505.2:c.1014+123_1014+125delinsAGG | XP_011539807.1:n.1014+123_1014+125delinsA... | |
| XM_011541506.2:c.1014+123_1014+125delinsAGG | XP_011539808.1:n.1014+123_1014+125delinsA... | |
| XM_017001331.1:c.1434+123_1434+125delinsAGG | XP_016856820.1:n.1434+123_1434+125delinsA... | |
| XM_017001332.1:c.1434+123_1434+125delinsAGG | XP_016856821.1:n.1434+123_1434+125delinsA... | |
| XM_017001333.1:c.1434+123_1434+125delinsAGG | XP_016856822.1:n.1434+123_1434+125delinsA... | |
| XM_017001334.1:c.1395+123_1395+125delinsAGG | XP_016856823.1:n.1395+123_1395+125delinsA... | |
| XM_017001335.1:c.1116+123_1116+125delinsAGG | XP_016856824.1:n.1116+123_1116+125delinsA... | |
| XM_017001336.1:c.1047+123_1047+125delinsAGG | XP_016856825.1:n.1047+123_1047+125delinsA... | |
| XM_017001337.1:c.1047+123_1047+125delinsAGG | XP_016856826.1:n.1047+123_1047+125delinsA... | |
| XM_024447244.1:c.1047+123_1047+125delinsAGG | XP_024303012.1:n.1047+123_1047+125delinsA... | |
| XM_024447245.1:c.1047+123_1047+125delinsAGG | XP_024303013.1:n.1047+123_1047+125delinsA... | |
| XM_024447248.1:c.1005+123_1005+125delinsAGG | XP_024303016.1:n.1005+123_1005+125delinsA... | |
| XM_024447249.1:c.876+123_876+125delinsAGG | XP_024303017.1:n.876+123_876+125delinsAGG... | |
| XM_024447250.1:c.876+123_876+125delinsAGG | XP_024303018.1:n.876+123_876+125delinsAGG... | |
| XM_024447251.1:c.876+123_876+125delinsAGG | XP_024303019.1:n.876+123_876+125delinsAGG... | |
| XR_001737190.1:n.1437+123_1437+125delinsAGG | ||
| XR_001737192.1:n.1249+123_1249+125delinsAGG | ||
| XR_002956643.1:n.1429+123_1429+125delinsAGG | ||
| XR_002956644.1:n.1964+123_1964+125delinsAGG | ||
| XR_946658.2:n.1537+123_1537+125delinsAGG | ||
| NM_001048171.2:c.1392+123_1392+125delinsAGG | NP_001041636.2:n.1392+123_1392+125delinsA... | |
| NM_001128425.2:c.1476+123_1476+125delinsAGG MANE Plus Clinical | NP_001121897.1:n.1476+123_1476+125delinsA... | |
| NM_001048172.2:c.1395+123_1395+125delinsAGG | NP_001041637.1:n.1395+123_1395+125delinsA... | |
| NM_001048173.2:c.1392+123_1392+125delinsAGG | NP_001041638.1:n.1392+123_1392+125delinsA... | |
| NM_001048174.2:c.1392+123_1392+125delinsAGG MANE Select | NP_001041639.1:n.1392+123_1392+125delinsA... | |
| NM_001293190.2:c.1437+123_1437+125delinsAGG | NP_001280119.1:n.1437+123_1437+125delinsA... | |
| NM_001293191.2:c.1425+123_1425+125delinsAGG | NP_001280120.1:n.1425+123_1425+125delinsA... | |
| NM_001293192.2:c.1116+123_1116+125delinsAGG | NP_001280121.1:n.1116+123_1116+125delinsA... | |
| NM_001293195.2:c.1392+123_1392+125delinsAGG | NP_001280124.1:n.1392+123_1392+125delinsA... | |
| NM_001293196.2:c.1116+123_1116+125delinsAGG | NP_001280125.1:n.1116+123_1116+125delinsA... | |
| NM_001350650.2:c.1047+123_1047+125delinsAGG | NP_001337579.1:n.1047+123_1047+125delinsA... | |
| NM_001350651.2:c.1047+123_1047+125delinsAGG | NP_001337580.1:n.1047+123_1047+125delinsA... | |
| NM_012222.3:c.1467+123_1467+125delinsAGG | NP_036354.1:n.1467+123_1467+125delinsAGG | |
| NR_146882.2:n.1620+123_1620+125delinsAGG | ||
| NR_146883.2:n.1469+123_1469+125delinsAGG |