Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034314_104034317del , CM000672.2:g.104034314_104034317del | GRCh38 |
| NC_000010.10:g.105794072_105794075del , CM000672.1:g.105794072_105794075del | GRCh37 |
| NC_000010.9:g.105784062_105784065del | NCBI36 |
| NG_007069.1:g.56566_56569del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3540_3543del | ENSP00000358748.3:p.Phe1180LeufsTer? | |
| ENST00000648076.2:c.3786_3789del MANE Select | ENSP00000497653.1:p.Phe1262LeufsTer? | |
| ENST00000353479.9:c.3786_3789del | ENSP00000340937.5:p.Phe1262LeufsTer? | |
| ENST00000369733.7:c.3540_3543del | ENSP00000358748.3:p.Phe1180LeufsTer? | |
| NM_000494.3:c.3786_3789del | NP_000485.3:p.Phe1262LeufsTer? | |
| NM_000494.4:c.3786_3789del MANE Select | NP_000485.3:p.Phe1262LeufsTer? |