Linked Data
ClinVar Variation Id:
2428761
ClinVar RCV Id:
RCV003120362
dbSNP Id:
rs1569519202
gnomAD v4:
21-46003468-ACCAAGCGCTTCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46003477_46003488del , CM000683.2:g.46003477_46003488del | GRCh38 |
| NC_000021.8:g.47423391_47423402del , CM000683.1:g.47423391_47423402del | GRCh37 |
| NC_000021.7:g.46247819_46247830del | NCBI36 |
| NG_008674.1:g.26729_26740del , LRG_475:g.26729_26740del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463060.6:n.950_961del | ||
| ENST00000612273.2:c.677_688del | ||
| ENST00000682634.1:c.677_688del | ||
| ENST00000361866.8:c.2551_2562del MANE Select | ENSP00000355180.3:p.Phe851_Arg854del | |
| ENST00000361866.7:c.2551_2562del | ENSP00000355180.3:p.Phe851_Arg854del | |
| ENST00000486023.1:n.339_350del | ||
| ENST00000498614.5:n.785_796del | ||
| ENST00000612273.1:c.2545_2556del | ENSP00000483630.1:p.Phe849_Arg852del | |
| NM_001848.2:c.2551_2562del , LRG_475t1:c.2551_2562del | NP_001839.2:p.Phe851_Arg854del | |
| NM_001848.3:c.2551_2562del MANE Select | NP_001839.2:p.Phe851_Arg854del |