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.45338291_45338292insTGGTTTACTT , CM000663.2:g.45338291_45338292insTGGTTTACTT | GRCh38 |
| NC_000001.10:g.45803963_45803964insTGGTTTACTT , CM000663.1:g.45803963_45803964insTGGTTTACTT | GRCh37 |
| NC_000001.9:g.45576550_45576551insTGGTTTACTT | NCBI36 |
| NG_008189.1:g.7179_7180insAAGTAAACCA , LRG_220:g.7179_7180insAAGTAAACCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412971.6:c.36+1927_36+1928insAAGTAAACCA | ENSP00000410263.2:n.36+1927_36+1928insAAG... | |
| ENST00000435155.2:c.-7+1684_-7+1685insAAGTAAACCA | ENSP00000403655.2:n.-7+1684_-7+1685insAAG... | |
| ENST00000467459.6:c.-7+1607_-7+1608insAAGTAAACCA | ENSP00000435889.2:n.-7+1607_-7+1608insAAG... | |
| ENST00000483127.2:c.-95_-94insAAGTAAACCA | ENSP00000436469.2:n.-95_-94insAAGTAAACCA | |
| ENST00000485271.6:c.-7+1684_-7+1685insAAGTAAACCA | ENSP00000431264.2:n.-7+1684_-7+1685insAAG... | |
| ENST00000529892.6:c.36+1927_36+1928insAAGTAAACCA | ENSP00000432528.2:n.36+1927_36+1928insAAG... | |
| ENST00000710952.2:c.36+1927_36+1928insAAGTAAACCA MANE Plus Clinical | ENSP00000518552.2:n.36+1927_36+1928insAAG... | |
| ENST00000672818.3:c.36+1927_36+1928insAAGTAAACCA | ENSP00000500891.1:n.36+1927_36+1928insAAG... | |
| ENST00000450313.6:c.36+1927_36+1928insAAGTAAACCA | ENSP00000408176.2:n.36+1927_36+1928insAAG... | |
| ENST00000456914.7:c.-7+1607_-7+1608insAAGTAAACCA MANE Select | ENSP00000407590.2:n.-7+1607_-7+1608insAAG... | |
| ENST00000461495.6:c.36+1927_36+1928insAAGTAAACCA | ENSP00000437166.1:n.36+1927_36+1928insAAG... | |
| ENST00000671856.1:n.14+1927_14+1928insAAGTAAACCA | ||
| ENST00000671898.1:c.541-3781_541-3780insAAGTAAACCA | ENSP00000499896.1:n.541-3781_541-3780insA... | |
| ENST00000672011.1:c.36+1927_36+1928insAAGTAAACCA | ENSP00000500418.1:n.36+1927_36+1928insAAG... | |
| ENST00000672593.1:c.-7+215_-7+216insAAGTAAACCA | ENSP00000500455.1:n.-7+215_-7+216insAAGTA... | |
| ENST00000672764.1:c.-7+1684_-7+1685insAAGTAAACCA | ENSP00000500886.1:n.-7+1684_-7+1685insAAG... | |
| ENST00000672818.2:c.36+1927_36+1928insAAGTAAACCA | ENSP00000500891.1:n.36+1927_36+1928insAAG... | |
| ENST00000673134.1:c.-7+1684_-7+1685insAAGTAAACCA | ENSP00000500526.1:n.-7+1684_-7+1685insAAG... | |
| ENST00000354383.10:c.-7+1684_-7+1685insAAGTAAACCA | ENSP00000346354.6:n.-7+1684_-7+1685insAAG... | |
| ENST00000355498.6:c.-7+1684_-7+1685insAAGTAAACCA | ENSP00000347685.2:n.-7+1684_-7+1685insAAG... | |
| ENST00000372098.7:c.36+1927_36+1928insAAGTAAACCA | ENSP00000361170.3:n.36+1927_36+1928insAAG... | |
| ENST00000372104.5:c.-7+215_-7+216insAAGTAAACCA | ENSP00000361176.1:n.-7+215_-7+216insAAGTA... | |
| ENST00000372110.7:c.36+1927_36+1928insAAGTAAACCA | ENSP00000361182.3:n.36+1927_36+1928insAAG... | |
| ENST00000372115.7:c.36+1927_36+1928insAAGTAAACCA | ENSP00000361187.3:n.36+1927_36+1928insAAG... | |
| ENST00000412971.5:c.36+1927_36+1928insAAGTAAACCA | ENSP00000410263.1:n.36+1927_36+1928insAAG... | |
| ENST00000435155.1:c.-7+1684_-7+1685insAAGTAAACCA | ENSP00000403655.1:n.-7+1684_-7+1685insAAG... | |
| ENST00000448481.5:c.-7+1607_-7+1608insAAGTAAACCA | ENSP00000409718.1:n.-7+1607_-7+1608insAAG... | |
| ENST00000450313.5:c.36+1927_36+1928insAAGTAAACCA | ENSP00000408176.1:n.36+1927_36+1928insAAG... | |
| ENST00000456914.6:c.-7+1607_-7+1608insAAGTAAACCA | ENSP00000407590.2:n.-7+1607_-7+1608insAAG... | |
| ENST00000461495.5:c.36+1927_36+1928insAAGTAAACCA | ENSP00000437166.1:n.36+1927_36+1928insAAG... | |
| ENST00000462387.5:n.214+1927_214+1928insAAGTAAACCA | ||
| ENST00000467940.5:c.52+1911_52+1912insAAGTAAACCA | ENSP00000436478.1:n.52+1911_52+1912insAAG... | |
| ENST00000470256.5:c.-7+1684_-7+1685insAAGTAAACCA | ENSP00000434985.1:n.-7+1684_-7+1685insAAG... | |
| ENST00000474703.1:n.116+1684_116+1685insAAGTAAACCA | ||
| ENST00000475516.5:c.-7+1684_-7+1685insAAGTAAACCA | ENSP00000433843.1:n.-7+1684_-7+1685insAAG... | |
| ENST00000476789.5:n.214+1927_214+1928insAAGTAAACCA | ||
| ENST00000479746.6:n.57+1607_57+1608insAAGTAAACCA | ||
| ENST00000481139.5:n.197+1927_197+1928insAAGTAAACCA | ||
| ENST00000481571.5:c.36+1927_36+1928insAAGTAAACCA | ENSP00000436597.1:n.36+1927_36+1928insAAG... | |
| ENST00000483127.1:c.-95_-94insAAGTAAACCA | ENSP00000436469.1:n.-95_-94insAAGTAAACCA | |
| ENST00000483642.5:n.175+1931_175+1932insAAGTAAACCA | ||
| ENST00000485484.5:n.44+1607_44+1608insAAGTAAACCA | ||
| ENST00000488731.6:c.-7+1684_-7+1685insAAGTAAACCA | ENSP00000432330.1:n.-7+1684_-7+1685insAAG... | |
| ENST00000492494.5:n.57+1607_57+1608insAAGTAAACCA | ||
| ENST00000525160.5:c.36+1927_36+1928insAAGTAAACCA | ENSP00000431568.1:n.36+1927_36+1928insAAG... | |
| ENST00000528013.6:c.-7+1607_-7+1608insAAGTAAACCA | ENSP00000433130.2:n.-7+1607_-7+1608insAAG... | |
| ENST00000529984.5:c.-7+1927_-7+1928insAAGTAAACCA | ENSP00000437093.1:n.-7+1927_-7+1928insAAG... | |
| ENST00000531105.5:c.-7+1684_-7+1685insAAGTAAACCA | ENSP00000431292.1:n.-7+1684_-7+1685insAAG... | |
| ENST00000534453.1:n.260+1684_260+1685insAAGTAAACCA | ||
| NM_001048171.1:c.36+1927_36+1928insAAGTAAACCA | NP_001041636.1:n.36+1927_36+1928insAAGTAA... | |
| NM_001048172.1:c.-7+1684_-7+1685insAAGTAAACCA | NP_001041637.1:n.-7+1684_-7+1685insAAGTAA... | |
| NM_001048173.1:c.-7+1684_-7+1685insAAGTAAACCA | NP_001041638.1:n.-7+1684_-7+1685insAAGTAA... | |
| NM_001048174.1:c.-7+1607_-7+1608insAAGTAAACCA | NP_001041639.1:n.-7+1607_-7+1608insAAGTAA... | |
| NM_001128425.1:c.36+1927_36+1928insAAGTAAACCA , LRG_220t1:c.36+1927_36+1928insAAGTAAACCA | NP_001121897.1:n.36+1927_36+1928insAAGTAA... | |
| NM_001293190.1:c.36+1927_36+1928insAAGTAAACCA | NP_001280119.1:n.36+1927_36+1928insAAGTAA... | |
| NM_001293191.1:c.-7+1607_-7+1608insAAGTAAACCA | NP_001280120.1:n.-7+1607_-7+1608insAAGTAA... | |
| NM_001293192.1:c.-219+1927_-219+1928insAAGTAAACCA | NP_001280121.1:n.-219+1927_-219+1928insAA... | |
| NM_001293195.1:c.-7+215_-7+216insAAGTAAACCA | NP_001280124.1:n.-7+215_-7+216insAAGTAAAC... | |
| NM_001293196.1:c.-219+1684_-219+1685insAAGTAAACCA | NP_001280125.1:n.-219+1684_-219+1685insAA... | |
| NM_012222.2:c.36+1927_36+1928insAAGTAAACCA | NP_036354.1:n.36+1927_36+1928insAAGTAAACC... | |
| XM_011541497.1:c.-95_-94insAAGTAAACCA | XP_011539799.1:n.-95_-94insAAGTAAACCA | |
| XM_011541498.1:c.-7+1684_-7+1685insAAGTAAACCA | XP_011539800.1:n.-7+1684_-7+1685insAAGTAA... | |
| XM_011541499.1:c.-7+1607_-7+1608insAAGTAAACCA | XP_011539801.1:n.-7+1607_-7+1608insAAGTAA... | |
| XM_011541500.1:c.-7+215_-7+216insAAGTAAACCA | XP_011539802.1:n.-7+215_-7+216insAAGTAAAC... | |
| XM_011541501.1:c.-7+215_-7+216insAAGTAAACCA | XP_011539803.1:n.-7+215_-7+216insAAGTAAAC... | |
| XM_011541502.1:c.-7+1370_-7+1371insAAGTAAACCA | XP_011539804.1:n.-7+1370_-7+1371insAAGTAA... | |
| XM_011541503.1:c.36+1927_36+1928insAAGTAAACCA | XP_011539805.1:n.36+1927_36+1928insAAGTAA... | |
| XM_011541504.1:c.-7+1684_-7+1685insAAGTAAACCA | XP_011539806.1:n.-7+1684_-7+1685insAAGTAA... | |
| XM_011541505.1:c.-80+1927_-80+1928insAAGTAAACCA | XP_011539807.1:n.-80+1927_-80+1928insAAGT... | |
| XM_011541506.1:c.-80+1684_-80+1685insAAGTAAACCA | XP_011539808.1:n.-80+1684_-80+1685insAAGT... | |
| XR_946658.1:n.83+1927_83+1928insAAGTAAACCA | ||
| NM_001350650.1:c.-278+1927_-278+1928insAAGTAAACCA | NP_001337579.1:n.-278+1927_-278+1928insAA... | |
| NM_001350651.1:c.-214+1927_-214+1928insAAGTAAACCA | NP_001337580.1:n.-214+1927_-214+1928insAA... | |
| NR_146882.1:n.252+1927_252+1928insAAGTAAACCA | ||
| NR_146883.1:n.140+1684_140+1685insAAGTAAACCA | ||
| XM_011541497.3:c.-95_-94insAAGTAAACCA | XP_011539799.1:n.-95_-94insAAGTAAACCA | |
| XM_011541500.3:c.-7+215_-7+216insAAGTAAACCA | XP_011539802.1:n.-7+215_-7+216insAAGTAAAC... | |
| XM_011541501.2:c.-7+215_-7+216insAAGTAAACCA | XP_011539803.1:n.-7+215_-7+216insAAGTAAAC... | |
| XM_011541502.2:c.-7+1370_-7+1371insAAGTAAACCA | XP_011539804.1:n.-7+1370_-7+1371insAAGTAA... | |
| XM_011541503.2:c.36+1927_36+1928insAAGTAAACCA | XP_011539805.1:n.36+1927_36+1928insAAGTAA... | |
| XM_011541504.2:c.-7+1684_-7+1685insAAGTAAACCA | XP_011539806.1:n.-7+1684_-7+1685insAAGTAA... | |
| XM_011541505.2:c.-80+1927_-80+1928insAAGTAAACCA | XP_011539807.1:n.-80+1927_-80+1928insAAGT... | |
| XM_011541506.2:c.-80+1684_-80+1685insAAGTAAACCA | XP_011539808.1:n.-80+1684_-80+1685insAAGT... | |
| XM_017001331.1:c.-7+1911_-7+1912insAAGTAAACCA | XP_016856820.1:n.-7+1911_-7+1912insAAGTAA... | |
| XM_017001332.1:c.-7+1931_-7+1932insAAGTAAACCA | XP_016856821.1:n.-7+1931_-7+1932insAAGTAA... | |
| XM_017001334.1:c.-7+1607_-7+1608insAAGTAAACCA | XP_016856823.1:n.-7+1607_-7+1608insAAGTAA... | |
| XM_017001335.1:c.-219+1911_-219+1912insAAGTAAACCA | XP_016856824.1:n.-219+1911_-219+1912insAA... | |
| XM_017001336.1:c.-311+1927_-311+1928insAAGTAAACCA | XP_016856825.1:n.-311+1927_-311+1928insAA... | |
| XM_017001337.1:c.-311+1684_-311+1685insAAGTAAACCA | XP_016856826.1:n.-311+1684_-311+1685insAA... | |
| XM_024447244.1:c.-320+1927_-320+1928insAAGTAAACCA | XP_024303012.1:n.-320+1927_-320+1928insAA... | |
| XM_024447245.1:c.-281+1684_-281+1685insAAGTAAACCA | XP_024303013.1:n.-281+1684_-281+1685insAA... | |
| XM_024447248.1:c.-278+1927_-278+1928insAAGTAAACCA | XP_024303016.1:n.-278+1927_-278+1928insAA... | |
| XM_024447249.1:c.-774+1931_-774+1932insAAGTAAACCA | XP_024303017.1:n.-774+1931_-774+1932insAA... | |
| XM_024447250.1:c.-777+1911_-777+1912insAAGTAAACCA | XP_024303018.1:n.-777+1911_-777+1912insAA... | |
| XM_024447251.1:c.-468+1684_-468+1685insAAGTAAACCA | XP_024303019.1:n.-468+1684_-468+1685insAA... | |
| XR_001737190.1:n.103+1927_103+1928insAAGTAAACCA | ||
| XR_001737192.1:n.31+1684_31+1685insAAGTAAACCA | ||
| XR_002956643.1:n.211+1927_211+1928insAAGTAAACCA | ||
| XR_002956644.1:n.229+1927_229+1928insAAGTAAACCA | ||
| XR_946658.2:n.97+1927_97+1928insAAGTAAACCA | ||
| NM_001048171.2:c.-7+1927_-7+1928insAAGTAAACCA | NP_001041636.2:n.-7+1927_-7+1928insAAGTAA... | |
| NM_001128425.2:c.36+1927_36+1928insAAGTAAACCA MANE Plus Clinical | NP_001121897.1:n.36+1927_36+1928insAAGTAA... | |
| NM_001048172.2:c.-7+1684_-7+1685insAAGTAAACCA | NP_001041637.1:n.-7+1684_-7+1685insAAGTAA... | |
| NM_001048173.2:c.-7+1684_-7+1685insAAGTAAACCA | NP_001041638.1:n.-7+1684_-7+1685insAAGTAA... | |
| NM_001048174.2:c.-7+1607_-7+1608insAAGTAAACCA MANE Select | NP_001041639.1:n.-7+1607_-7+1608insAAGTAA... | |
| NM_001293190.2:c.36+1927_36+1928insAAGTAAACCA | NP_001280119.1:n.36+1927_36+1928insAAGTAA... | |
| NM_001293191.2:c.-7+1607_-7+1608insAAGTAAACCA | NP_001280120.1:n.-7+1607_-7+1608insAAGTAA... | |
| NM_001293192.2:c.-219+1927_-219+1928insAAGTAAACCA | NP_001280121.1:n.-219+1927_-219+1928insAA... | |
| NM_001293195.2:c.-7+215_-7+216insAAGTAAACCA | NP_001280124.1:n.-7+215_-7+216insAAGTAAAC... | |
| NM_001293196.2:c.-219+1684_-219+1685insAAGTAAACCA | NP_001280125.1:n.-219+1684_-219+1685insAA... | |
| NM_001350650.2:c.-278+1927_-278+1928insAAGTAAACCA | NP_001337579.1:n.-278+1927_-278+1928insAA... | |
| NM_001350651.2:c.-214+1927_-214+1928insAAGTAAACCA | NP_001337580.1:n.-214+1927_-214+1928insAA... | |
| NM_012222.3:c.36+1927_36+1928insAAGTAAACCA | NP_036354.1:n.36+1927_36+1928insAAGTAAACC... | |
| NR_146882.2:n.222+1927_222+1928insAAGTAAACCA | ||
| NR_146883.2:n.145+1684_145+1685insAAGTAAACCA |