Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767742_28767744del , CM000676.2:g.28767742_28767744del | GRCh38 |
| NC_000014.8:g.29236948_29236950del , CM000676.1:g.29236948_29236950del | GRCh37 |
| NC_000014.7:g.28306699_28306701del | NCBI36 |
| NG_009367.1:g.5662_5664del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005249.5:c.463_465del MANE Select | NP_005240.3:p.Glu155del |
| ENST00000313071.7:c.463_465del MANE Select | ENSP00000339004.3:p.Glu155del |
| NM_005249.4:c.463_465del | NP_005240.3:p.Glu155del |
| ENST00000313071.6:c.463_465del | ENSP00000339004.3:p.Glu155del |
| ENST00000706482.1:c.463_465del | ENSP00000516406.1:p.Glu155del |