Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188991718del , CM000664.2:g.188991718del | GRCh38 |
| NC_000002.11:g.189856444del , CM000664.1:g.189856444del | GRCh37 |
| NC_000002.10:g.189564689del | NCBI36 |
| NG_007404.1:g.22346del , LRG_3:g.22346del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.947del | ENSP00000415346.2:p.Ala316ValfsTer? | |
| ENST00000304636.9:c.947del MANE Select | ENSP00000304408.4:p.Ala316ValfsTer? | |
| ENST00000304636.7:c.947del | ENSP00000304408.3:p.Ala316ValfsTer? | |
| ENST00000317840.9:c.947del | ENSP00000315243.6:p.Ala316ValfsTer? | |
| ENST00000450867.1:c.45del | ||
| NM_000090.3:c.947del , LRG_3t1:c.947del | NP_000081.1:p.Ala316ValfsTer? | |
| NM_000090.4:c.947del MANE Select | NP_000081.2:p.Ala316ValfsTer? |