Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188984761del , CM000664.2:g.188984761del | GRCh38 |
| NC_000002.11:g.189849487del , CM000664.1:g.189849487del | GRCh37 |
| NC_000002.10:g.189557732del | NCBI36 |
| NG_007404.1:g.15389del , LRG_3:g.15389del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.81del | ENSP00000415346.2:p.Val28LeufsTer? | |
| ENST00000304636.9:c.81del MANE Select | ENSP00000304408.4:p.Val28LeufsTer? | |
| ENST00000304636.7:c.81del | ENSP00000304408.3:p.Val28LeufsTer? | |
| ENST00000317840.9:c.81del | ENSP00000315243.6:p.Val28LeufsTer? | |
| ENST00000470167.1:n.177del | ||
| NM_000090.3:c.81del , LRG_3t1:c.81del | NP_000081.1:p.Val28LeufsTer? | |
| XR_923689.1:n.39del | ||
| XR_923689.3:n.34del | ||
| NM_000090.4:c.81del MANE Select | NP_000081.2:p.Val28LeufsTer? |