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.45332270_45332275dup , CM000663.2:g.45332270_45332275dup | GRCh38 |
| NC_000001.10:g.45797942_45797947dup , CM000663.1:g.45797942_45797947dup | GRCh37 |
| NC_000001.9:g.45570529_45570534dup | NCBI36 |
| NG_008189.1:g.13196_13201dup , LRG_220:g.13196_13201dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412971.6:c.356_361dup | ENSP00000410263.2:p.Gly120_Asp121insAlaGl... | |
| ENST00000435155.2:c.773_778dup | ENSP00000403655.2:p.Gly259_Asp260insAlaGl... | |
| ENST00000467459.6:c.740_745dup | ENSP00000435889.2:p.Gly248_Asp249insAlaGl... | |
| ENST00000483127.2:c.758_763dup | ENSP00000436469.2:p.Gly254_Asp255insAlaGl... | |
| ENST00000485271.6:c.740_745dup | ENSP00000431264.2:p.Gly248_Asp249insAlaGl... | |
| ENST00000529892.6:c.782_787dup | ENSP00000432528.2:p.Gly262_Asp263insAlaGl... | |
| ENST00000533178.6:c.*69_*74dup | ENSP00000436430.2:n.*69_*74dup | |
| ENST00000672314.2:c.740_745dup | ENSP00000500828.2:p.Gly248_Asp249insAlaGl... | |
| ENST00000674679.2:c.*652_*657dup | ENSP00000501623.2:n.*652_*657dup | |
| ENST00000710952.2:c.824_829dup MANE Plus Clinical | ENSP00000518552.2:p.Gly276_Asp277insAlaGl... | |
| ENST00000672818.3:c.815_820dup | ENSP00000500891.1:p.Gly273_Asp274insAlaGl... | |
| ENST00000450313.6:c.*69_*74dup | ENSP00000408176.2:n.*69_*74dup | |
| ENST00000456914.7:c.740_745dup MANE Select | ENSP00000407590.2:p.Gly248_Asp249insAlaGl... | |
| ENST00000461495.6:c.*479_*484dup | ENSP00000437166.1:n.*479_*484dup | |
| ENST00000671898.1:c.1328_1333dup | ENSP00000499896.1:p.Gly444_Asp445insAlaGl... | |
| ENST00000672011.1:c.*69_*74dup | ENSP00000500418.1:n.*69_*74dup | |
| ENST00000672314.1:c.740_745dup | ENSP00000500828.1:p.Gly248_Asp249insAlaGl... | |
| ENST00000672593.1:c.*793_*798dup | ENSP00000500455.1:n.*793_*798dup | |
| ENST00000672764.1:c.*69_*74dup | ENSP00000500886.1:n.*69_*74dup | |
| ENST00000672818.2:c.815_820dup | ENSP00000500891.1:p.Gly273_Asp274insAlaGl... | |
| ENST00000673134.1:c.*437_*442dup | ENSP00000500526.1:n.*437_*442dup | |
| ENST00000674679.1:c.768_773dup | ENSP00000501623.1:n.768_773dup | |
| ENST00000354383.10:c.743_748dup | ENSP00000346354.6:p.Gly249_Asp250insAlaGl... | |
| ENST00000355498.6:c.740_745dup | ENSP00000347685.2:p.Gly248_Asp249insAlaGl... | |
| ENST00000372098.7:c.815_820dup | ENSP00000361170.3:p.Gly273_Asp274insAlaGl... | |
| ENST00000372104.5:c.740_745dup | ENSP00000361176.1:p.Gly248_Asp249insAlaGl... | |
| ENST00000372110.7:c.785_790dup | ENSP00000361182.3:p.Gly263_Asp264insAlaGl... | |
| ENST00000372115.7:c.782_787dup | ENSP00000361187.3:p.Gly262_Asp263insAlaGl... | |
| ENST00000412971.5:c.356_361dup | ENSP00000410263.1:p.Gly120_Asp121insAlaGl... | |
| ENST00000435155.1:c.773_778dup | ENSP00000403655.1:p.Gly259_Asp260insAlaGl... | |
| ENST00000448481.5:c.773_778dup | ENSP00000409718.1:p.Gly259_Asp260insAlaGl... | |
| ENST00000450313.5:c.824_829dup | ENSP00000408176.1:p.Gly276_Asp277insAlaGl... | |
| ENST00000456914.6:c.740_745dup | ENSP00000407590.2:p.Gly248_Asp249insAlaGl... | |
| ENST00000461495.5:c.*479_*484dup | ENSP00000437166.1:n.*479_*484dup | |
| ENST00000462388.5:n.431_436dup | ||
| ENST00000466231.1:n.105_110dup | ||
| ENST00000467459.5:c.134_139dup | ENSP00000435889.1:p.Gly46_Asp47insAlaGly | |
| ENST00000467940.5:c.*663_*668dup | ENSP00000436478.1:n.*663_*668dup | |
| ENST00000470256.5:c.*69_*74dup | ENSP00000434985.1:n.*69_*74dup | |
| ENST00000475516.5:c.*553_*558dup | ENSP00000433843.1:n.*553_*558dup | |
| ENST00000478796.5:n.727_732dup | ||
| ENST00000481571.5:c.*553_*558dup | ENSP00000436597.1:n.*553_*558dup | |
| ENST00000488731.6:c.187+488_187+493dup | ENSP00000432330.1:n.187+488_187+493dup | |
| ENST00000528013.6:c.782_787dup | ENSP00000433130.2:p.Gly262_Asp263insAlaGl... | |
| ENST00000529892.5:c.4_9dup | ||
| ENST00000529984.5:c.187+488_187+493dup | ENSP00000437093.1:n.187+488_187+493dup | |
| ENST00000531105.5:c.115+2116_115+2121dup | ENSP00000431292.1:n.115+2116_115+2121dup | |
| ENST00000533178.5:c.369_374dup | ENSP00000436430.1:n.369_374dup | |
| NM_001048171.1:c.782_787dup | NP_001041636.1:p.Gly262_Asp263insAlaGly | |
| NM_001048172.1:c.743_748dup | NP_001041637.1:p.Gly249_Asp250insAlaGly | |
| NM_001048173.1:c.740_745dup | NP_001041638.1:p.Gly248_Asp249insAlaGly | |
| NM_001048174.1:c.740_745dup | NP_001041639.1:p.Gly248_Asp249insAlaGly | |
| NM_001128425.1:c.824_829dup , LRG_220t1:c.824_829dup | NP_001121897.1:p.Gly276_Asp277insAlaGly | |
| NM_001293190.1:c.785_790dup | NP_001280119.1:p.Gly263_Asp264insAlaGly | |
| NM_001293191.1:c.773_778dup | NP_001280120.1:p.Gly259_Asp260insAlaGly | |
| NM_001293192.1:c.464_469dup | NP_001280121.1:p.Gly156_Asp157insAlaGly | |
| NM_001293195.1:c.740_745dup | NP_001280124.1:p.Gly248_Asp249insAlaGly | |
| NM_001293196.1:c.464_469dup | NP_001280125.1:p.Gly156_Asp157insAlaGly | |
| NM_012222.2:c.815_820dup | NP_036354.1:p.Gly273_Asp274insAlaGly | |
| XM_011541497.1:c.800_805dup | XP_011539799.1:p.Gly268_Asp269insAlaGly | |
| XM_011541498.1:c.782_787dup | XP_011539800.1:p.Gly262_Asp263insAlaGly | |
| XM_011541499.1:c.782_787dup | XP_011539801.1:p.Gly262_Asp263insAlaGly | |
| XM_011541500.1:c.782_787dup | XP_011539802.1:p.Gly262_Asp263insAlaGly | |
| XM_011541501.1:c.782_787dup | XP_011539803.1:p.Gly262_Asp263insAlaGly | |
| XM_011541502.1:c.782_787dup | XP_011539804.1:p.Gly262_Asp263insAlaGly | |
| XM_011541503.1:c.782_787dup | XP_011539805.1:p.Gly262_Asp263insAlaGly | |
| XM_011541504.1:c.773_778dup | XP_011539806.1:p.Gly259_Asp260insAlaGly | |
| XM_011541505.1:c.362_367dup | XP_011539807.1:p.Gly122_Asp123insAlaGly | |
| XM_011541506.1:c.362_367dup | XP_011539808.1:p.Gly122_Asp123insAlaGly | |
| XM_011541507.1:c.353_358dup | XP_011539809.1:p.Gly119_Asp120insAlaGly | |
| XM_011541508.1:c.368_373dup | XP_011539810.1:p.Gly124_Asp125insAlaGly | |
| XR_946658.1:n.871_876dup | ||
| NM_001350650.1:c.395_400dup | NP_001337579.1:p.Gly133_Asp134insAlaGly | |
| NM_001350651.1:c.395_400dup | NP_001337580.1:p.Gly133_Asp134insAlaGly | |
| NR_146882.1:n.998_1003dup | ||
| NR_146883.1:n.812_817dup | ||
| XM_011541497.3:c.800_805dup | XP_011539799.1:p.Gly268_Asp269insAlaGly | |
| XM_011541500.3:c.782_787dup | XP_011539802.1:p.Gly262_Asp263insAlaGly | |
| XM_011541501.2:c.782_787dup | XP_011539803.1:p.Gly262_Asp263insAlaGly | |
| XM_011541502.2:c.782_787dup | XP_011539804.1:p.Gly262_Asp263insAlaGly | |
| XM_011541503.2:c.782_787dup | XP_011539805.1:p.Gly262_Asp263insAlaGly | |
| XM_011541504.2:c.773_778dup | XP_011539806.1:p.Gly259_Asp260insAlaGly | |
| XM_011541505.2:c.362_367dup | XP_011539807.1:p.Gly122_Asp123insAlaGly | |
| XM_011541506.2:c.362_367dup | XP_011539808.1:p.Gly122_Asp123insAlaGly | |
| XM_017001331.1:c.782_787dup | XP_016856820.1:p.Gly262_Asp263insAlaGly | |
| XM_017001332.1:c.782_787dup | XP_016856821.1:p.Gly262_Asp263insAlaGly | |
| XM_017001333.1:c.782_787dup | XP_016856822.1:p.Gly262_Asp263insAlaGly | |
| XM_017001334.1:c.743_748dup | XP_016856823.1:p.Gly249_Asp250insAlaGly | |
| XM_017001335.1:c.464_469dup | XP_016856824.1:p.Gly156_Asp157insAlaGly | |
| XM_017001336.1:c.395_400dup | XP_016856825.1:p.Gly133_Asp134insAlaGly | |
| XM_017001337.1:c.395_400dup | XP_016856826.1:p.Gly133_Asp134insAlaGly | |
| XM_024447244.1:c.395_400dup | XP_024303012.1:p.Gly133_Asp134insAlaGly | |
| XM_024447245.1:c.395_400dup | XP_024303013.1:p.Gly133_Asp134insAlaGly | |
| XM_024447248.1:c.353_358dup | XP_024303016.1:p.Gly119_Asp120insAlaGly | |
| XM_024447249.1:c.224_229dup | XP_024303017.1:p.Gly76_Asp77insAlaGly | |
| XM_024447250.1:c.224_229dup | XP_024303018.1:p.Gly76_Asp77insAlaGly | |
| XM_024447251.1:c.224_229dup | XP_024303019.1:p.Gly76_Asp77insAlaGly | |
| XR_001737190.1:n.785_790dup | ||
| XR_001737192.1:n.597_602dup | ||
| XR_002956643.1:n.777_782dup | ||
| XR_002956644.1:n.1312_1317dup | ||
| XR_946658.2:n.885_890dup | ||
| NM_001048171.2:c.740_745dup | NP_001041636.2:p.Gly248_Asp249insAlaGly | |
| NM_001128425.2:c.824_829dup MANE Plus Clinical | NP_001121897.1:p.Gly276_Asp277insAlaGly | |
| NM_001048172.2:c.743_748dup | NP_001041637.1:p.Gly249_Asp250insAlaGly | |
| NM_001048173.2:c.740_745dup | NP_001041638.1:p.Gly248_Asp249insAlaGly | |
| NM_001048174.2:c.740_745dup MANE Select | NP_001041639.1:p.Gly248_Asp249insAlaGly | |
| NM_001293190.2:c.785_790dup | NP_001280119.1:p.Gly263_Asp264insAlaGly | |
| NM_001293191.2:c.773_778dup | NP_001280120.1:p.Gly259_Asp260insAlaGly | |
| NM_001293192.2:c.464_469dup | NP_001280121.1:p.Gly156_Asp157insAlaGly | |
| NM_001293195.2:c.740_745dup | NP_001280124.1:p.Gly248_Asp249insAlaGly | |
| NM_001293196.2:c.464_469dup | NP_001280125.1:p.Gly156_Asp157insAlaGly | |
| NM_001350650.2:c.395_400dup | NP_001337579.1:p.Gly133_Asp134insAlaGly | |
| NM_001350651.2:c.395_400dup | NP_001337580.1:p.Gly133_Asp134insAlaGly | |
| NM_012222.3:c.815_820dup | NP_036354.1:p.Gly273_Asp274insAlaGly | |
| NR_146882.2:n.968_973dup | ||
| NR_146883.2:n.817_822dup |