Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72888457_72888461del , CM000664.2:g.72888457_72888461del | GRCh38 |
| NC_000002.11:g.73115586_73115590del , CM000664.1:g.73115586_73115590del | GRCh37 |
| NC_000002.10:g.72969094_72969098del | NCBI36 |
| NG_008234.1:g.6075_6079del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.448_452del MANE Select | ENSP00000234454.5:p.Thr151GlyfsTer2 | |
| ENST00000234454.5:c.448_452del | ENSP00000234454.5:p.Thr151GlyfsTer2 | |
| ENST00000498749.1:n.393_397del | ||
| NM_003124.4:c.448_452del | NP_003115.1:p.Thr151GlyfsTer2 | |
| NM_003124.5:c.448_452del MANE Select | NP_003115.1:p.Thr151GlyfsTer2 |