Linked Data
gnomAD v4:
11-5226854-CCAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226855_5226857del , CM000673.2:g.5226855_5226857del | GRCh38 |
| NC_000011.9:g.5248085_5248087del , CM000673.1:g.5248085_5248087del | GRCh37 |
| NC_000011.8:g.5204661_5204663del | NCBI36 |
| NG_000007.3:g.70759_70761del | |
| NG_059281.1:g.5215_5217del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.93-58_93-56del | ENSP00000494175.1:n.93-58_93-56del | |
| ENST00000335295.4:c.93-58_93-56del MANE Select | ENSP00000333994.3:n.93-58_93-56del | |
| ENST00000380315.2:c.93-58_93-56del | ENSP00000369671.2:n.93-58_93-56del | |
| ENST00000485743.1:n.144-58_144-56del | ||
| ENST00000633227.1:c.77-58_77-56del | ENSP00000488004.1:n.77-58_77-56del | |
| NM_000518.4:c.93-58_93-56del | NP_000509.1:n.93-58_93-56del | |
| NM_000518.5:c.93-58_93-56del MANE Select | NP_000509.1:n.93-58_93-56del |