Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144475220_144475223del , CM000670.2:g.144475220_144475223del | GRCh38 |
| NC_000008.10:g.145700603_145700606del , CM000670.1:g.145700603_145700606del | GRCh37 |
| NC_000008.9:g.145671411_145671414del | NCBI36 |
| NG_030003.1:g.6114_6117del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003923.3:c.214_217del MANE Select | NP_003914.1:p.Glu72ThrfsTer? |
| ENST00000377317.5:c.214_217del MANE Select | ENSP00000366534.4:p.Glu72ThrfsTer? |
| NM_003923.2:c.214_217del | NP_003914.1:p.Glu72ThrfsTer? |
| ENST00000377317.4:c.214_217del | ENSP00000366534.4:p.Glu72ThrfsTer? |
| ENST00000525197.1:n.243_246del |