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.
Linked Data
gnomAD v4:
1-45338452-CAAATCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45338453_45338458del , CM000663.2:g.45338453_45338458del | GRCh38 |
| NC_000001.10:g.45804125_45804130del , CM000663.1:g.45804125_45804130del | GRCh37 |
| NC_000001.9:g.45576712_45576717del | NCBI36 |
| NG_008189.1:g.7013_7018del , LRG_220:g.7013_7018del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412971.6:c.36+1761_36+1766del | ENSP00000410263.2:n.36+1761_36+1766del | |
| ENST00000435155.2:c.-7+1518_-7+1523del | ENSP00000403655.2:n.-7+1518_-7+1523del | |
| ENST00000467459.6:c.-7+1441_-7+1446del | ENSP00000435889.2:n.-7+1441_-7+1446del | |
| ENST00000483127.2:c.-261_-256del | ENSP00000436469.2:n.-261_-256del | |
| ENST00000485271.6:c.-7+1518_-7+1523del | ENSP00000431264.2:n.-7+1518_-7+1523del | |
| ENST00000529892.6:c.36+1761_36+1766del | ENSP00000432528.2:n.36+1761_36+1766del | |
| ENST00000710952.2:c.36+1761_36+1766del MANE Plus Clinical | ENSP00000518552.2:n.36+1761_36+1766del | |
| ENST00000672818.3:c.36+1761_36+1766del | ENSP00000500891.1:n.36+1761_36+1766del | |
| ENST00000450313.6:c.36+1761_36+1766del | ENSP00000408176.2:n.36+1761_36+1766del | |
| ENST00000456914.7:c.-7+1441_-7+1446del MANE Select | ENSP00000407590.2:n.-7+1441_-7+1446del | |
| ENST00000461495.6:c.36+1761_36+1766del | ENSP00000437166.1:n.36+1761_36+1766del | |
| ENST00000671856.1:n.14+1761_14+1766del | ||
| ENST00000671898.1:c.541-3947_541-3942del | ENSP00000499896.1:n.541-3947_541-3942del | |
| ENST00000672011.1:c.36+1761_36+1766del | ENSP00000500418.1:n.36+1761_36+1766del | |
| ENST00000672593.1:c.-7+49_-7+54del | ENSP00000500455.1:n.-7+49_-7+54del | |
| ENST00000672764.1:c.-7+1518_-7+1523del | ENSP00000500886.1:n.-7+1518_-7+1523del | |
| ENST00000672818.2:c.36+1761_36+1766del | ENSP00000500891.1:n.36+1761_36+1766del | |
| ENST00000673134.1:c.-7+1518_-7+1523del | ENSP00000500526.1:n.-7+1518_-7+1523del | |
| ENST00000354383.10:c.-7+1518_-7+1523del | ENSP00000346354.6:n.-7+1518_-7+1523del | |
| ENST00000355498.6:c.-7+1518_-7+1523del | ENSP00000347685.2:n.-7+1518_-7+1523del | |
| ENST00000372098.7:c.36+1761_36+1766del | ENSP00000361170.3:n.36+1761_36+1766del | |
| ENST00000372104.5:c.-7+49_-7+54del | ENSP00000361176.1:n.-7+49_-7+54del | |
| ENST00000372110.7:c.36+1761_36+1766del | ENSP00000361182.3:n.36+1761_36+1766del | |
| ENST00000372115.7:c.36+1761_36+1766del | ENSP00000361187.3:n.36+1761_36+1766del | |
| ENST00000412971.5:c.36+1761_36+1766del | ENSP00000410263.1:n.36+1761_36+1766del | |
| ENST00000435155.1:c.-7+1518_-7+1523del | ENSP00000403655.1:n.-7+1518_-7+1523del | |
| ENST00000448481.5:c.-7+1441_-7+1446del | ENSP00000409718.1:n.-7+1441_-7+1446del | |
| ENST00000450313.5:c.36+1761_36+1766del | ENSP00000408176.1:n.36+1761_36+1766del | |
| ENST00000456914.6:c.-7+1441_-7+1446del | ENSP00000407590.2:n.-7+1441_-7+1446del | |
| ENST00000461495.5:c.36+1761_36+1766del | ENSP00000437166.1:n.36+1761_36+1766del | |
| ENST00000462387.5:n.214+1761_214+1766del | ||
| ENST00000467940.5:c.52+1745_52+1750del | ENSP00000436478.1:n.52+1745_52+1750del | |
| ENST00000470256.5:c.-7+1518_-7+1523del | ENSP00000434985.1:n.-7+1518_-7+1523del | |
| ENST00000474703.1:n.116+1518_116+1523del | ||
| ENST00000475516.5:c.-7+1518_-7+1523del | ENSP00000433843.1:n.-7+1518_-7+1523del | |
| ENST00000476789.5:n.214+1761_214+1766del | ||
| ENST00000479746.6:n.57+1441_57+1446del | ||
| ENST00000481139.5:n.197+1761_197+1766del | ||
| ENST00000481571.5:c.36+1761_36+1766del | ENSP00000436597.1:n.36+1761_36+1766del | |
| ENST00000483127.1:c.-261_-256del | ENSP00000436469.1:n.-261_-256del | |
| ENST00000483642.5:n.175+1765_175+1770del | ||
| ENST00000485484.5:n.44+1441_44+1446del | ||
| ENST00000488731.6:c.-7+1518_-7+1523del | ENSP00000432330.1:n.-7+1518_-7+1523del | |
| ENST00000492494.5:n.57+1441_57+1446del | ||
| ENST00000525160.5:c.36+1761_36+1766del | ENSP00000431568.1:n.36+1761_36+1766del | |
| ENST00000528013.6:c.-7+1441_-7+1446del | ENSP00000433130.2:n.-7+1441_-7+1446del | |
| ENST00000529984.5:c.-7+1761_-7+1766del | ENSP00000437093.1:n.-7+1761_-7+1766del | |
| ENST00000531105.5:c.-7+1518_-7+1523del | ENSP00000431292.1:n.-7+1518_-7+1523del | |
| ENST00000534453.1:n.260+1518_260+1523del | ||
| NM_001048171.1:c.36+1761_36+1766del | NP_001041636.1:n.36+1761_36+1766del | |
| NM_001048172.1:c.-7+1518_-7+1523del | NP_001041637.1:n.-7+1518_-7+1523del | |
| NM_001048173.1:c.-7+1518_-7+1523del | NP_001041638.1:n.-7+1518_-7+1523del | |
| NM_001048174.1:c.-7+1441_-7+1446del | NP_001041639.1:n.-7+1441_-7+1446del | |
| NM_001128425.1:c.36+1761_36+1766del , LRG_220t1:c.36+1761_36+1766del | NP_001121897.1:n.36+1761_36+1766del | |
| NM_001293190.1:c.36+1761_36+1766del | NP_001280119.1:n.36+1761_36+1766del | |
| NM_001293191.1:c.-7+1441_-7+1446del | NP_001280120.1:n.-7+1441_-7+1446del | |
| NM_001293192.1:c.-219+1761_-219+1766del | NP_001280121.1:n.-219+1761_-219+1766del | |
| NM_001293195.1:c.-7+49_-7+54del | NP_001280124.1:n.-7+49_-7+54del | |
| NM_001293196.1:c.-219+1518_-219+1523del | NP_001280125.1:n.-219+1518_-219+1523del | |
| NM_012222.2:c.36+1761_36+1766del | NP_036354.1:n.36+1761_36+1766del | |
| XM_011541497.1:c.-261_-256del | XP_011539799.1:n.-261_-256del | |
| XM_011541498.1:c.-7+1518_-7+1523del | XP_011539800.1:n.-7+1518_-7+1523del | |
| XM_011541499.1:c.-7+1441_-7+1446del | XP_011539801.1:n.-7+1441_-7+1446del | |
| XM_011541500.1:c.-7+49_-7+54del | XP_011539802.1:n.-7+49_-7+54del | |
| XM_011541501.1:c.-7+49_-7+54del | XP_011539803.1:n.-7+49_-7+54del | |
| XM_011541502.1:c.-7+1204_-7+1209del | XP_011539804.1:n.-7+1204_-7+1209del | |
| XM_011541503.1:c.36+1761_36+1766del | XP_011539805.1:n.36+1761_36+1766del | |
| XM_011541504.1:c.-7+1518_-7+1523del | XP_011539806.1:n.-7+1518_-7+1523del | |
| XM_011541505.1:c.-80+1761_-80+1766del | XP_011539807.1:n.-80+1761_-80+1766del | |
| XM_011541506.1:c.-80+1518_-80+1523del | XP_011539808.1:n.-80+1518_-80+1523del | |
| XR_946658.1:n.83+1761_83+1766del | ||
| NM_001350650.1:c.-278+1761_-278+1766del | NP_001337579.1:n.-278+1761_-278+1766del | |
| NM_001350651.1:c.-214+1761_-214+1766del | NP_001337580.1:n.-214+1761_-214+1766del | |
| NR_146882.1:n.252+1761_252+1766del | ||
| NR_146883.1:n.140+1518_140+1523del | ||
| XM_011541497.3:c.-261_-256del | XP_011539799.1:n.-261_-256del | |
| XM_011541500.3:c.-7+49_-7+54del | XP_011539802.1:n.-7+49_-7+54del | |
| XM_011541501.2:c.-7+49_-7+54del | XP_011539803.1:n.-7+49_-7+54del | |
| XM_011541502.2:c.-7+1204_-7+1209del | XP_011539804.1:n.-7+1204_-7+1209del | |
| XM_011541503.2:c.36+1761_36+1766del | XP_011539805.1:n.36+1761_36+1766del | |
| XM_011541504.2:c.-7+1518_-7+1523del | XP_011539806.1:n.-7+1518_-7+1523del | |
| XM_011541505.2:c.-80+1761_-80+1766del | XP_011539807.1:n.-80+1761_-80+1766del | |
| XM_011541506.2:c.-80+1518_-80+1523del | XP_011539808.1:n.-80+1518_-80+1523del | |
| XM_017001331.1:c.-7+1745_-7+1750del | XP_016856820.1:n.-7+1745_-7+1750del | |
| XM_017001332.1:c.-7+1765_-7+1770del | XP_016856821.1:n.-7+1765_-7+1770del | |
| XM_017001334.1:c.-7+1441_-7+1446del | XP_016856823.1:n.-7+1441_-7+1446del | |
| XM_017001335.1:c.-219+1745_-219+1750del | XP_016856824.1:n.-219+1745_-219+1750del | |
| XM_017001336.1:c.-311+1761_-311+1766del | XP_016856825.1:n.-311+1761_-311+1766del | |
| XM_017001337.1:c.-311+1518_-311+1523del | XP_016856826.1:n.-311+1518_-311+1523del | |
| XM_024447244.1:c.-320+1761_-320+1766del | XP_024303012.1:n.-320+1761_-320+1766del | |
| XM_024447245.1:c.-281+1518_-281+1523del | XP_024303013.1:n.-281+1518_-281+1523del | |
| XM_024447248.1:c.-278+1761_-278+1766del | XP_024303016.1:n.-278+1761_-278+1766del | |
| XM_024447249.1:c.-774+1765_-774+1770del | XP_024303017.1:n.-774+1765_-774+1770del | |
| XM_024447250.1:c.-777+1745_-777+1750del | XP_024303018.1:n.-777+1745_-777+1750del | |
| XM_024447251.1:c.-468+1518_-468+1523del | XP_024303019.1:n.-468+1518_-468+1523del | |
| XR_001737190.1:n.103+1761_103+1766del | ||
| XR_001737192.1:n.31+1518_31+1523del | ||
| XR_002956643.1:n.211+1761_211+1766del | ||
| XR_002956644.1:n.229+1761_229+1766del | ||
| XR_946658.2:n.97+1761_97+1766del | ||
| NM_001048171.2:c.-7+1761_-7+1766del | NP_001041636.2:n.-7+1761_-7+1766del | |
| NM_001128425.2:c.36+1761_36+1766del MANE Plus Clinical | NP_001121897.1:n.36+1761_36+1766del | |
| NM_001048172.2:c.-7+1518_-7+1523del | NP_001041637.1:n.-7+1518_-7+1523del | |
| NM_001048173.2:c.-7+1518_-7+1523del | NP_001041638.1:n.-7+1518_-7+1523del | |
| NM_001048174.2:c.-7+1441_-7+1446del MANE Select | NP_001041639.1:n.-7+1441_-7+1446del | |
| NM_001293190.2:c.36+1761_36+1766del | NP_001280119.1:n.36+1761_36+1766del | |
| NM_001293191.2:c.-7+1441_-7+1446del | NP_001280120.1:n.-7+1441_-7+1446del | |
| NM_001293192.2:c.-219+1761_-219+1766del | NP_001280121.1:n.-219+1761_-219+1766del | |
| NM_001293195.2:c.-7+49_-7+54del | NP_001280124.1:n.-7+49_-7+54del | |
| NM_001293196.2:c.-219+1518_-219+1523del | NP_001280125.1:n.-219+1518_-219+1523del | |
| NM_001350650.2:c.-278+1761_-278+1766del | NP_001337579.1:n.-278+1761_-278+1766del | |
| NM_001350651.2:c.-214+1761_-214+1766del | NP_001337580.1:n.-214+1761_-214+1766del | |
| NM_012222.3:c.36+1761_36+1766del | NP_036354.1:n.36+1761_36+1766del | |
| NR_146882.2:n.222+1761_222+1766del | ||
| NR_146883.2:n.145+1518_145+1523del |