Linked Data
gnomAD v4:
19-55154278-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154284del , CM000681.2:g.55154284del | GRCh38 |
| NC_000019.9:g.55665652del , CM000681.1:g.55665652del | GRCh37 |
| NC_000019.8:g.60357464del | NCBI36 |
| NG_007866.2:g.8454del , LRG_432:g.8454del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.373-73del MANE Select | ENSP00000341838.5:n.373-73del | |
| ENST00000665070.1:c.406-73del | ENSP00000499482.1:n.406-73del | |
| ENST00000344887.9:c.373-73del | ENSP00000341838.5:n.373-73del | |
| ENST00000585806.5:n.372-73del | ||
| ENST00000586669.5:n.381-73del | ||
| ENST00000588882.1:c.298-73del | ENSP00000466729.1:n.298-73del | |
| ENST00000589864.1:n.128del | ||
| NM_000363.4:c.373-73del , LRG_432t1:c.373-73del | NP_000354.4:n.373-73del | |
| NM_000363.5:c.373-73del MANE Select | NP_000354.4:n.373-73del |