Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54465773del , CM000685.2:g.54465773del | GRCh38 |
| NC_000023.10:g.54492206del , CM000685.1:g.54492206del | GRCh37 |
| NC_000023.9:g.54508931del | NCBI36 |
| NG_008054.1:g.35396del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004463.3:c.1422del MANE Select | NP_004454.2:p.Phe474LeufsTer? |
| ENST00000375135.4:c.1422del MANE Select | ENSP00000364277.3:p.Phe474LeufsTer? |
| NM_004463.2:c.1422del | NP_004454.2:p.Phe474LeufsTer? |
| ENST00000375135.3:c.1422del | ENSP00000364277.3:p.Phe474LeufsTer? |