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.45329386_45329416del , CM000663.2:g.45329386_45329416del | GRCh38 |
| NC_000001.10:g.45795058_45795088del , CM000663.1:g.45795058_45795088del | GRCh37 |
| NC_000001.9:g.45567645_45567675del | NCBI36 |
| NG_008189.1:g.16056_16086del , LRG_220:g.16056_16086del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412971.6:c.1073_1103del | ENSP00000410263.2:p.Ser358TrpfsTer? | |
| ENST00000435155.2:c.1490_1520del | ENSP00000403655.2:p.Ser497TrpfsTer? | |
| ENST00000467459.6:c.*319_*349del | ENSP00000435889.2:n.*319_*349del | |
| ENST00000483127.2:c.1475_1505del | ENSP00000436469.2:p.Ser492TrpfsTer? | |
| ENST00000485271.6:c.*200_*230del | ENSP00000431264.2:n.*200_*230del | |
| ENST00000529892.6:c.1310_1340del | ENSP00000432528.2:p.Ser437TrpfsTer? | |
| ENST00000533178.6:c.*786_*816del | ENSP00000436430.2:n.*786_*816del | |
| ENST00000672314.2:c.1457_1487del | ENSP00000500828.2:p.Ser486TrpfsTer? | |
| ENST00000710952.2:c.1541_1571del MANE Plus Clinical | ENSP00000518552.2:p.Ser514TrpfsTer? | |
| ENST00000672818.3:c.1532_1562del | ENSP00000500891.1:p.Ser511TrpfsTer? | |
| ENST00000456914.7:c.1457_1487del MANE Select | ENSP00000407590.2:p.Ser486TrpfsTer? | |
| ENST00000671898.1:c.*200_*230del | ENSP00000499896.1:n.*200_*230del | |
| ENST00000672011.1:c.*786_*816del | ENSP00000500418.1:n.*786_*816del | |
| ENST00000672818.2:c.1532_1562del | ENSP00000500891.1:p.Ser511TrpfsTer? | |
| ENST00000354383.10:c.1460_1490del | ENSP00000346354.6:p.Ser487TrpfsTer? | |
| ENST00000355498.6:c.1457_1487del | ENSP00000347685.2:p.Ser486TrpfsTer? | |
| ENST00000372098.7:c.1532_1562del | ENSP00000361170.3:p.Ser511TrpfsTer? | |
| ENST00000372104.5:c.1457_1487del | ENSP00000361176.1:p.Ser486TrpfsTer? | |
| ENST00000372110.7:c.1502_1532del | ENSP00000361182.3:p.Ser501TrpfsTer? | |
| ENST00000372115.7:c.1499_1529del | ENSP00000361187.3:p.Ser500TrpfsTer? | |
| ENST00000448481.5:c.1490_1520del | ENSP00000409718.1:p.Ser497TrpfsTer? | |
| ENST00000450313.5:c.1541_1571del | ENSP00000408176.1:p.Ser514TrpfsTer? | |
| ENST00000456914.6:c.1457_1487del | ENSP00000407590.2:p.Ser486TrpfsTer? | |
| ENST00000467459.5:c.874_904del | ENSP00000435889.1:n.874_904del | |
| ENST00000475516.5:c.*1270_*1300del | ENSP00000433843.1:n.*1270_*1300del | |
| ENST00000481571.5:c.*1270_*1300del | ENSP00000436597.1:n.*1270_*1300del | |
| ENST00000482094.5:n.778_808del | ||
| ENST00000485271.5:c.334_364del | ||
| ENST00000488731.6:c.542_572del | ENSP00000432330.1:p.Ser181TrpfsTer? | |
| ENST00000528013.6:c.1499_1529del | ENSP00000433130.2:p.Ser500TrpfsTer? | |
| ENST00000529892.5:c.532_562del | ||
| ENST00000529984.5:c.542_572del | ENSP00000437093.1:p.Ser181TrpfsTer? | |
| ENST00000531105.5:c.138_168del | ENSP00000431292.1:p.Leu47GlyfsTer26 | |
| ENST00000533178.5:c.1086_1116del | ENSP00000436430.1:n.1086_1116del | |
| NM_001048171.1:c.1499_1529del | NP_001041636.1:p.Ser500TrpfsTer? | |
| NM_001048172.1:c.1460_1490del | NP_001041637.1:p.Ser487TrpfsTer? | |
| NM_001048173.1:c.1457_1487del | NP_001041638.1:p.Ser486TrpfsTer? | |
| NM_001048174.1:c.1457_1487del | NP_001041639.1:p.Ser486TrpfsTer? | |
| NM_001128425.1:c.1541_1571del , LRG_220t1:c.1541_1571del | NP_001121897.1:p.Ser514TrpfsTer? | |
| NM_001293190.1:c.1502_1532del | NP_001280119.1:p.Ser501TrpfsTer? | |
| NM_001293191.1:c.1490_1520del | NP_001280120.1:p.Ser497TrpfsTer? | |
| NM_001293192.1:c.1181_1211del | NP_001280121.1:p.Ser394TrpfsTer? | |
| NM_001293195.1:c.1457_1487del | NP_001280124.1:p.Ser486TrpfsTer? | |
| NM_001293196.1:c.1181_1211del | NP_001280125.1:p.Ser394TrpfsTer? | |
| NM_012222.2:c.1532_1562del | NP_036354.1:p.Ser511TrpfsTer? | |
| XM_011541497.1:c.1517_1547del | XP_011539799.1:p.Ser506TrpfsTer? | |
| XM_011541498.1:c.1499_1529del | XP_011539800.1:p.Ser500TrpfsTer? | |
| XM_011541499.1:c.1499_1529del | XP_011539801.1:p.Ser500TrpfsTer? | |
| XM_011541500.1:c.1499_1529del | XP_011539802.1:p.Ser500TrpfsTer? | |
| XM_011541501.1:c.1499_1529del | XP_011539803.1:p.Ser500TrpfsTer? | |
| XM_011541502.1:c.1499_1529del | XP_011539804.1:p.Ser500TrpfsTer? | |
| XM_011541503.1:c.1499_1529del | XP_011539805.1:p.Ser500TrpfsTer? | |
| XM_011541504.1:c.1490_1520del | XP_011539806.1:p.Ser497TrpfsTer? | |
| XM_011541505.1:c.1079_1109del | XP_011539807.1:p.Ser360TrpfsTer? | |
| XM_011541506.1:c.1079_1109del | XP_011539808.1:p.Ser360TrpfsTer? | |
| XM_011541507.1:c.1070_1100del | XP_011539809.1:p.Ser357TrpfsTer? | |
| XM_011541508.1:c.1085_1115del | XP_011539810.1:p.Ser362TrpfsTer? | |
| XR_946658.1:n.1768_1798del | ||
| NM_001350650.1:c.1112_1142del | NP_001337579.1:p.Ser371TrpfsTer? | |
| NM_001350651.1:c.1112_1142del | NP_001337580.1:p.Ser371TrpfsTer? | |
| NR_146882.1:n.1895_1925del | ||
| NR_146883.1:n.1709_1739del | ||
| XM_011541497.3:c.1517_1547del | XP_011539799.1:p.Ser506TrpfsTer? | |
| XM_011541500.3:c.1499_1529del | XP_011539802.1:p.Ser500TrpfsTer? | |
| XM_011541501.2:c.1499_1529del | XP_011539803.1:p.Ser500TrpfsTer? | |
| XM_011541502.2:c.1499_1529del | XP_011539804.1:p.Ser500TrpfsTer? | |
| XM_011541503.2:c.1499_1529del | XP_011539805.1:p.Ser500TrpfsTer? | |
| XM_011541504.2:c.1490_1520del | XP_011539806.1:p.Ser497TrpfsTer? | |
| XM_011541505.2:c.1079_1109del | XP_011539807.1:p.Ser360TrpfsTer? | |
| XM_011541506.2:c.1079_1109del | XP_011539808.1:p.Ser360TrpfsTer? | |
| XM_017001331.1:c.1499_1529del | XP_016856820.1:p.Ser500TrpfsTer? | |
| XM_017001332.1:c.1499_1529del | XP_016856821.1:p.Ser500TrpfsTer? | |
| XM_017001333.1:c.1499_1529del | XP_016856822.1:p.Ser500TrpfsTer? | |
| XM_017001334.1:c.1460_1490del | XP_016856823.1:p.Ser487TrpfsTer? | |
| XM_017001335.1:c.1181_1211del | XP_016856824.1:p.Ser394TrpfsTer? | |
| XM_017001336.1:c.1112_1142del | XP_016856825.1:p.Ser371TrpfsTer? | |
| XM_017001337.1:c.1112_1142del | XP_016856826.1:p.Ser371TrpfsTer? | |
| XM_024447244.1:c.1112_1142del | XP_024303012.1:p.Ser371TrpfsTer? | |
| XM_024447245.1:c.1112_1142del | XP_024303013.1:p.Ser371TrpfsTer? | |
| XM_024447248.1:c.1070_1100del | XP_024303016.1:p.Ser357TrpfsTer? | |
| XM_024447249.1:c.941_971del | XP_024303017.1:p.Ser314TrpfsTer? | |
| XM_024447250.1:c.941_971del | XP_024303018.1:p.Ser314TrpfsTer? | |
| XM_024447251.1:c.941_971del | XP_024303019.1:p.Ser314TrpfsTer? | |
| XR_001737190.1:n.1682_1712del | ||
| XR_001737192.1:n.1494_1524del | ||
| XR_002956643.1:n.1674_1704del | ||
| XR_002956644.1:n.2209_2239del | ||
| XR_946658.2:n.1782_1812del | ||
| NM_001048171.2:c.1457_1487del | NP_001041636.2:p.Ser486TrpfsTer? | |
| NM_001128425.2:c.1541_1571del MANE Plus Clinical | NP_001121897.1:p.Ser514TrpfsTer? | |
| NM_001048172.2:c.1460_1490del | NP_001041637.1:p.Ser487TrpfsTer? | |
| NM_001048173.2:c.1457_1487del | NP_001041638.1:p.Ser486TrpfsTer? | |
| NM_001048174.2:c.1457_1487del MANE Select | NP_001041639.1:p.Ser486TrpfsTer? | |
| NM_001293190.2:c.1502_1532del | NP_001280119.1:p.Ser501TrpfsTer? | |
| NM_001293191.2:c.1490_1520del | NP_001280120.1:p.Ser497TrpfsTer? | |
| NM_001293192.2:c.1181_1211del | NP_001280121.1:p.Ser394TrpfsTer? | |
| NM_001293195.2:c.1457_1487del | NP_001280124.1:p.Ser486TrpfsTer? | |
| NM_001293196.2:c.1181_1211del | NP_001280125.1:p.Ser394TrpfsTer? | |
| NM_001350650.2:c.1112_1142del | NP_001337579.1:p.Ser371TrpfsTer? | |
| NM_001350651.2:c.1112_1142del | NP_001337580.1:p.Ser371TrpfsTer? | |
| NM_012222.3:c.1532_1562del | NP_036354.1:p.Ser511TrpfsTer? | |
| NR_146882.2:n.1865_1895del | ||
| NR_146883.2:n.1714_1744del |