UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
481788
ClinVar RCV Id:
RCV001208903
dbSNP Id:
rs1553127514
gnomAD v4:
1-45332164-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45332169_45332170del , CM000663.2:g.45332169_45332170del | GRCh38 |
| NC_000001.10:g.45797841_45797842del , CM000663.1:g.45797841_45797842del | GRCh37 |
| NC_000001.9:g.45570428_45570429del | NCBI36 |
| NG_008189.1:g.13305_13306del , LRG_220:g.13305_13306del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412971.6:c.465_465+1del | ||
| ENST00000435155.2:c.882_882+1del | ||
| ENST00000467459.6:c.849_849+1del | ||
| ENST00000483127.2:c.867_867+1del | ||
| ENST00000485271.6:c.849_849+1del | ||
| ENST00000529892.6:c.891_891+1del | ||
| ENST00000533178.6:c.*178_*178+1del | ||
| ENST00000672314.2:c.849_849+1del | ||
| ENST00000710952.2:c.933_933+1del | ||
| ENST00000672818.3:c.924_924+1del | ||
| ENST00000456914.7:c.849_849+1del | ||
| ENST00000461495.6:c.*588_*588+1del | ||
| ENST00000671898.1:c.1437_1437+1del | ||
| ENST00000672011.1:c.*178_*178+1del | ||
| ENST00000672314.1:c.849_849+1del | ||
| ENST00000672593.1:c.*902_*902+1del | ||
| ENST00000672764.1:c.*178_*178+1del | ||
| ENST00000672818.2:c.924_924+1del | ||
| ENST00000673134.1:c.*546_*546+1del | ||
| ENST00000354383.10:c.852_852+1del | ||
| ENST00000355498.6:c.849_849+1del | ||
| ENST00000372098.7:c.924_924+1del | ||
| ENST00000372104.5:c.849_849+1del | ||
| ENST00000372110.7:c.894_894+1del | ||
| ENST00000372115.7:c.891_891+1del | ||
| ENST00000412971.5:c.465_465+1del | ||
| ENST00000448481.5:c.882_882+1del | ||
| ENST00000450313.5:c.933_933+1del | ||
| ENST00000456914.6:c.849_849+1del | ||
| ENST00000461495.5:c.*588_*588+1del | ||
| ENST00000462388.5:n.540_540+1del | ||
| ENST00000466231.1:n.214_214+1del | ||
| ENST00000467459.5:c.243_243+1del | ||
| ENST00000470256.5:c.*178_*178+1del | ||
| ENST00000475516.5:c.*662_*662+1del | ||
| ENST00000481571.5:c.*662_*662+1del | ||
| ENST00000488731.6:c.187+597_187+598del | ENSP00000432330.1:n.187+597_187+598del | |
| ENST00000528013.6:c.891_891+1del | ||
| ENST00000529892.5:c.113_113+1del | ||
| ENST00000529984.5:c.187+597_187+598del | ENSP00000437093.1:n.187+597_187+598del | |
| ENST00000531105.5:c.115+2225_115+2226del | ENSP00000431292.1:n.115+2225_115+2226del | |
| ENST00000533178.5:c.478_478+1del | ||
| NM_001048171.1:c.891_891+1del | ||
| NM_001048172.1:c.852_852+1del | ||
| NM_001048173.1:c.849_849+1del | ||
| NM_001048174.1:c.849_849+1del | ||
| NM_001128425.1:c.933_933+1del , LRG_220t1:c.933_933+1del | ||
| NM_001293190.1:c.894_894+1del | ||
| NM_001293191.1:c.882_882+1del | ||
| NM_001293192.1:c.573_573+1del | ||
| NM_001293195.1:c.849_849+1del | ||
| NM_001293196.1:c.573_573+1del | ||
| NM_012222.2:c.924_924+1del | ||
| XM_011541497.1:c.909_909+1del | ||
| XM_011541498.1:c.891_891+1del | ||
| XM_011541499.1:c.891_891+1del | ||
| XM_011541500.1:c.891_891+1del | ||
| XM_011541501.1:c.891_891+1del | ||
| XM_011541502.1:c.891_891+1del | ||
| XM_011541503.1:c.891_891+1del | ||
| XM_011541504.1:c.882_882+1del | ||
| XM_011541505.1:c.471_471+1del | ||
| XM_011541506.1:c.471_471+1del | ||
| XM_011541507.1:c.462_462+1del | ||
| XM_011541508.1:c.477_477+1del | ||
| XR_946658.1:n.980_980+1del | ||
| NM_001350650.1:c.504_504+1del | ||
| NM_001350651.1:c.504_504+1del | ||
| NR_146882.1:n.1107_1107+1del | ||
| NR_146883.1:n.921_921+1del | ||
| XM_011541497.3:c.909_909+1del | ||
| XM_011541500.3:c.891_891+1del | ||
| XM_011541501.2:c.891_891+1del | ||
| XM_011541502.2:c.891_891+1del | ||
| XM_011541503.2:c.891_891+1del | ||
| XM_011541504.2:c.882_882+1del | ||
| XM_011541505.2:c.471_471+1del | ||
| XM_011541506.2:c.471_471+1del | ||
| XM_017001331.1:c.891_891+1del | ||
| XM_017001332.1:c.891_891+1del | ||
| XM_017001333.1:c.891_891+1del | ||
| XM_017001334.1:c.852_852+1del | ||
| XM_017001335.1:c.573_573+1del | ||
| XM_017001336.1:c.504_504+1del | ||
| XM_017001337.1:c.504_504+1del | ||
| XM_024447244.1:c.504_504+1del | ||
| XM_024447245.1:c.504_504+1del | ||
| XM_024447248.1:c.462_462+1del | ||
| XM_024447249.1:c.333_333+1del | ||
| XM_024447250.1:c.333_333+1del | ||
| XM_024447251.1:c.333_333+1del | ||
| XR_001737190.1:n.894_894+1del | ||
| XR_001737192.1:n.706_706+1del | ||
| XR_002956643.1:n.886_886+1del | ||
| XR_002956644.1:n.1421_1421+1del | ||
| XR_946658.2:n.994_994+1del | ||
| NM_001048171.2:c.849_849+1del | ||
| NM_001128425.2:c.933_933+1del | ||
| NM_001048172.2:c.852_852+1del | ||
| NM_001048173.2:c.849_849+1del | ||
| NM_001048174.2:c.849_849+1del | ||
| NM_001293190.2:c.894_894+1del | ||
| NM_001293191.2:c.882_882+1del | ||
| NM_001293192.2:c.573_573+1del | ||
| NM_001293195.2:c.849_849+1del | ||
| NM_001293196.2:c.573_573+1del | ||
| NM_001350650.2:c.504_504+1del | ||
| NM_001350651.2:c.504_504+1del | ||
| NM_012222.3:c.924_924+1del | ||
| NR_146882.2:n.1077_1077+1del | ||
| NR_146883.2:n.926_926+1del |