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.45332242_45332253delinsCCTAGCTCCATG , CM000663.2:g.45332242_45332253delinsCCTAGCTCCATG | GRCh38 |
| NC_000001.10:g.45797914_45797925delinsCCTAGCTCCATG , CM000663.1:g.45797914_45797925delinsCCTAGCTCCATG | GRCh37 |
| NC_000001.9:g.45570501_45570512delinsCCTAGCTCCATG | NCBI36 |
| NG_008189.1:g.13218_13229delinsCATGGAGCTAGG , LRG_220:g.13218_13229delinsCATGGAGCTAGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412971.6:c.378_389delinsCATGGAGCTAGG | ENSP00000410263.2:p.Ala126= | |
| ENST00000435155.2:c.795_806delinsCATGGAGCTAGG | ENSP00000403655.2:p.Ala265= | |
| ENST00000467459.6:c.762_773delinsCATGGAGCTAGG | ENSP00000435889.2:p.Ala254= | |
| ENST00000483127.2:c.780_791delinsCATGGAGCTAGG | ENSP00000436469.2:p.Ala260= | |
| ENST00000485271.6:c.762_773delinsCATGGAGCTAGG | ENSP00000431264.2:p.Ala254= | |
| ENST00000529892.6:c.804_815delinsCATGGAGCTAGG | ENSP00000432528.2:p.Ala268= | |
| ENST00000533178.6:c.*91_*102delinsCATGGAGCTAGG | ENSP00000436430.2:n.*91_*102delinsCATGGAG... | |
| ENST00000672314.2:c.762_773delinsCATGGAGCTAGG | ENSP00000500828.2:p.Ala254= | |
| ENST00000674679.2:c.*674_*685delinsCATGGAGCTAGG | ENSP00000501623.2:n.*674_*685delinsCATGGA... | |
| ENST00000710952.2:c.846_857delinsCATGGAGCTAGG MANE Plus Clinical | ENSP00000518552.2:p.Ala282= | |
| ENST00000672818.3:c.837_848delinsCATGGAGCTAGG | ENSP00000500891.1:p.Ala279= | |
| ENST00000450313.6:c.*91_*102delinsCATGGAGCTAGG | ENSP00000408176.2:n.*91_*102delinsCATGGAG... | |
| ENST00000456914.7:c.762_773delinsCATGGAGCTAGG MANE Select | ENSP00000407590.2:p.Ala254= | |
| ENST00000461495.6:c.*501_*512delinsCATGGAGCTAGG | ENSP00000437166.1:n.*501_*512delinsCATGGA... | |
| ENST00000671898.1:c.1350_1361delinsCATGGAGCTAGG | ENSP00000499896.1:p.Ala450= | |
| ENST00000672011.1:c.*91_*102delinsCATGGAGCTAGG | ENSP00000500418.1:n.*91_*102delinsCATGGAG... | |
| ENST00000672314.1:c.762_773delinsCATGGAGCTAGG | ENSP00000500828.1:p.Ala254= | |
| ENST00000672593.1:c.*815_*826delinsCATGGAGCTAGG | ENSP00000500455.1:n.*815_*826delinsCATGGA... | |
| ENST00000672764.1:c.*91_*102delinsCATGGAGCTAGG | ENSP00000500886.1:n.*91_*102delinsCATGGAG... | |
| ENST00000672818.2:c.837_848delinsCATGGAGCTAGG | ENSP00000500891.1:p.Ala279= | |
| ENST00000673134.1:c.*459_*470delinsCATGGAGCTAGG | ENSP00000500526.1:n.*459_*470delinsCATGGA... | |
| ENST00000674679.1:c.790_801delinsCATGGAGCTAGG | ENSP00000501623.1:n.790_801delinsCATGGAGC... | |
| ENST00000354383.10:c.765_776delinsCATGGAGCTAGG | ENSP00000346354.6:p.Ala255= | |
| ENST00000355498.6:c.762_773delinsCATGGAGCTAGG | ENSP00000347685.2:p.Ala254= | |
| ENST00000372098.7:c.837_848delinsCATGGAGCTAGG | ENSP00000361170.3:p.Ala279= | |
| ENST00000372104.5:c.762_773delinsCATGGAGCTAGG | ENSP00000361176.1:p.Ala254= | |
| ENST00000372110.7:c.807_818delinsCATGGAGCTAGG | ENSP00000361182.3:p.Ala269= | |
| ENST00000372115.7:c.804_815delinsCATGGAGCTAGG | ENSP00000361187.3:p.Ala268= | |
| ENST00000412971.5:c.378_389delinsCATGGAGCTAGG | ENSP00000410263.1:p.Ala126= | |
| ENST00000435155.1:c.795_806delinsCATGGAGCTAGG | ENSP00000403655.1:p.Ala265= | |
| ENST00000448481.5:c.795_806delinsCATGGAGCTAGG | ENSP00000409718.1:p.Ala265= | |
| ENST00000450313.5:c.846_857delinsCATGGAGCTAGG | ENSP00000408176.1:p.Ala282= | |
| ENST00000456914.6:c.762_773delinsCATGGAGCTAGG | ENSP00000407590.2:p.Ala254= | |
| ENST00000461495.5:c.*501_*512delinsCATGGAGCTAGG | ENSP00000437166.1:n.*501_*512delinsCATGGA... | |
| ENST00000462388.5:n.453_464delinsCATGGAGCTAGG | ||
| ENST00000466231.1:n.127_138delinsCATGGAGCTAGG | ||
| ENST00000467459.5:c.156_167delinsCATGGAGCTAGG | ENSP00000435889.1:p.Ala52= | |
| ENST00000467940.5:c.*685_*696delinsCATGGAGCTAGG | ENSP00000436478.1:n.*685_*696delinsCATGGA... | |
| ENST00000470256.5:c.*91_*102delinsCATGGAGCTAGG | ENSP00000434985.1:n.*91_*102delinsCATGGAG... | |
| ENST00000475516.5:c.*575_*586delinsCATGGAGCTAGG | ENSP00000433843.1:n.*575_*586delinsCATGGA... | |
| ENST00000478796.5:n.749_760delinsCATGGAGCTAGG | ||
| ENST00000481571.5:c.*575_*586delinsCATGGAGCTAGG | ENSP00000436597.1:n.*575_*586delinsCATGGA... | |
| ENST00000488731.6:c.187+510_187+521delinsCATGGAGCTAGG | ENSP00000432330.1:n.187+510_187+521delins... | |
| ENST00000528013.6:c.804_815delinsCATGGAGCTAGG | ENSP00000433130.2:p.Ala268= | |
| ENST00000529892.5:c.26_37delinsCATGGAGCTAGG | ||
| ENST00000529984.5:c.187+510_187+521delinsCATGGAGCTAGG | ENSP00000437093.1:n.187+510_187+521delins... | |
| ENST00000531105.5:c.115+2138_115+2149delinsCATGGAGCTAGG | ENSP00000431292.1:n.115+2138_115+2149deli... | |
| ENST00000533178.5:c.391_402delinsCATGGAGCTAGG | ENSP00000436430.1:n.391_402delinsCATGGAGC... | |
| NM_001048171.1:c.804_815delinsCATGGAGCTAGG | NP_001041636.1:p.Ala268= | |
| NM_001048172.1:c.765_776delinsCATGGAGCTAGG | NP_001041637.1:p.Ala255= | |
| NM_001048173.1:c.762_773delinsCATGGAGCTAGG | NP_001041638.1:p.Ala254= | |
| NM_001048174.1:c.762_773delinsCATGGAGCTAGG | NP_001041639.1:p.Ala254= | |
| NM_001128425.1:c.846_857delinsCATGGAGCTAGG , LRG_220t1:c.846_857delinsCATGGAGCTAGG | NP_001121897.1:p.Ala282= | |
| NM_001293190.1:c.807_818delinsCATGGAGCTAGG | NP_001280119.1:p.Ala269= | |
| NM_001293191.1:c.795_806delinsCATGGAGCTAGG | NP_001280120.1:p.Ala265= | |
| NM_001293192.1:c.486_497delinsCATGGAGCTAGG | NP_001280121.1:p.Ala162= | |
| NM_001293195.1:c.762_773delinsCATGGAGCTAGG | NP_001280124.1:p.Ala254= | |
| NM_001293196.1:c.486_497delinsCATGGAGCTAGG | NP_001280125.1:p.Ala162= | |
| NM_012222.2:c.837_848delinsCATGGAGCTAGG | NP_036354.1:p.Ala279= | |
| XM_011541497.1:c.822_833delinsCATGGAGCTAGG | XP_011539799.1:p.Ala274= | |
| XM_011541498.1:c.804_815delinsCATGGAGCTAGG | XP_011539800.1:p.Ala268= | |
| XM_011541499.1:c.804_815delinsCATGGAGCTAGG | XP_011539801.1:p.Ala268= | |
| XM_011541500.1:c.804_815delinsCATGGAGCTAGG | XP_011539802.1:p.Ala268= | |
| XM_011541501.1:c.804_815delinsCATGGAGCTAGG | XP_011539803.1:p.Ala268= | |
| XM_011541502.1:c.804_815delinsCATGGAGCTAGG | XP_011539804.1:p.Ala268= | |
| XM_011541503.1:c.804_815delinsCATGGAGCTAGG | XP_011539805.1:p.Ala268= | |
| XM_011541504.1:c.795_806delinsCATGGAGCTAGG | XP_011539806.1:p.Ala265= | |
| XM_011541505.1:c.384_395delinsCATGGAGCTAGG | XP_011539807.1:p.Ala128= | |
| XM_011541506.1:c.384_395delinsCATGGAGCTAGG | XP_011539808.1:p.Ala128= | |
| XM_011541507.1:c.375_386delinsCATGGAGCTAGG | XP_011539809.1:p.Ala125= | |
| XM_011541508.1:c.390_401delinsCATGGAGCTAGG | XP_011539810.1:p.Ala130= | |
| XR_946658.1:n.893_904delinsCATGGAGCTAGG | ||
| NM_001350650.1:c.417_428delinsCATGGAGCTAGG | NP_001337579.1:p.Ala139= | |
| NM_001350651.1:c.417_428delinsCATGGAGCTAGG | NP_001337580.1:p.Ala139= | |
| NR_146882.1:n.1020_1031delinsCATGGAGCTAGG | ||
| NR_146883.1:n.834_845delinsCATGGAGCTAGG | ||
| XM_011541497.3:c.822_833delinsCATGGAGCTAGG | XP_011539799.1:p.Ala274= | |
| XM_011541500.3:c.804_815delinsCATGGAGCTAGG | XP_011539802.1:p.Ala268= | |
| XM_011541501.2:c.804_815delinsCATGGAGCTAGG | XP_011539803.1:p.Ala268= | |
| XM_011541502.2:c.804_815delinsCATGGAGCTAGG | XP_011539804.1:p.Ala268= | |
| XM_011541503.2:c.804_815delinsCATGGAGCTAGG | XP_011539805.1:p.Ala268= | |
| XM_011541504.2:c.795_806delinsCATGGAGCTAGG | XP_011539806.1:p.Ala265= | |
| XM_011541505.2:c.384_395delinsCATGGAGCTAGG | XP_011539807.1:p.Ala128= | |
| XM_011541506.2:c.384_395delinsCATGGAGCTAGG | XP_011539808.1:p.Ala128= | |
| XM_017001331.1:c.804_815delinsCATGGAGCTAGG | XP_016856820.1:p.Ala268= | |
| XM_017001332.1:c.804_815delinsCATGGAGCTAGG | XP_016856821.1:p.Ala268= | |
| XM_017001333.1:c.804_815delinsCATGGAGCTAGG | XP_016856822.1:p.Ala268= | |
| XM_017001334.1:c.765_776delinsCATGGAGCTAGG | XP_016856823.1:p.Ala255= | |
| XM_017001335.1:c.486_497delinsCATGGAGCTAGG | XP_016856824.1:p.Ala162= | |
| XM_017001336.1:c.417_428delinsCATGGAGCTAGG | XP_016856825.1:p.Ala139= | |
| XM_017001337.1:c.417_428delinsCATGGAGCTAGG | XP_016856826.1:p.Ala139= | |
| XM_024447244.1:c.417_428delinsCATGGAGCTAGG | XP_024303012.1:p.Ala139= | |
| XM_024447245.1:c.417_428delinsCATGGAGCTAGG | XP_024303013.1:p.Ala139= | |
| XM_024447248.1:c.375_386delinsCATGGAGCTAGG | XP_024303016.1:p.Ala125= | |
| XM_024447249.1:c.246_257delinsCATGGAGCTAGG | XP_024303017.1:p.Ala82= | |
| XM_024447250.1:c.246_257delinsCATGGAGCTAGG | XP_024303018.1:p.Ala82= | |
| XM_024447251.1:c.246_257delinsCATGGAGCTAGG | XP_024303019.1:p.Ala82= | |
| XR_001737190.1:n.807_818delinsCATGGAGCTAGG | ||
| XR_001737192.1:n.619_630delinsCATGGAGCTAGG | ||
| XR_002956643.1:n.799_810delinsCATGGAGCTAGG | ||
| XR_002956644.1:n.1334_1345delinsCATGGAGCTAGG | ||
| XR_946658.2:n.907_918delinsCATGGAGCTAGG | ||
| NM_001048171.2:c.762_773delinsCATGGAGCTAGG | NP_001041636.2:p.Ala254= | |
| NM_001128425.2:c.846_857delinsCATGGAGCTAGG MANE Plus Clinical | NP_001121897.1:p.Ala282= | |
| NM_001048172.2:c.765_776delinsCATGGAGCTAGG | NP_001041637.1:p.Ala255= | |
| NM_001048173.2:c.762_773delinsCATGGAGCTAGG | NP_001041638.1:p.Ala254= | |
| NM_001048174.2:c.762_773delinsCATGGAGCTAGG MANE Select | NP_001041639.1:p.Ala254= | |
| NM_001293190.2:c.807_818delinsCATGGAGCTAGG | NP_001280119.1:p.Ala269= | |
| NM_001293191.2:c.795_806delinsCATGGAGCTAGG | NP_001280120.1:p.Ala265= | |
| NM_001293192.2:c.486_497delinsCATGGAGCTAGG | NP_001280121.1:p.Ala162= | |
| NM_001293195.2:c.762_773delinsCATGGAGCTAGG | NP_001280124.1:p.Ala254= | |
| NM_001293196.2:c.486_497delinsCATGGAGCTAGG | NP_001280125.1:p.Ala162= | |
| NM_001350650.2:c.417_428delinsCATGGAGCTAGG | NP_001337579.1:p.Ala139= | |
| NM_001350651.2:c.417_428delinsCATGGAGCTAGG | NP_001337580.1:p.Ala139= | |
| NM_012222.3:c.837_848delinsCATGGAGCTAGG | NP_036354.1:p.Ala279= | |
| NR_146882.2:n.990_1001delinsCATGGAGCTAGG | ||
| NR_146883.2:n.839_850delinsCATGGAGCTAGG |