Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174724953_174724954del , CM000667.2:g.174724953_174724954del | GRCh38 |
| NC_000005.9:g.174151956_174151957del , CM000667.1:g.174151956_174151957del | GRCh37 |
| NC_000005.8:g.174084562_174084563del | NCBI36 |
| NG_008124.1:g.5382_5383del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.294_295del MANE Select | ENSP00000239243.5:p.Phe99ArgfsTer? | |
| ENST00000239243.6:c.294_295del | ENSP00000239243.5:p.Phe99ArgfsTer? | |
| ENST00000507785.2:c.294_295del | ENSP00000427425.1:p.Phe99ArgfsTer29 | |
| NM_002449.4:c.294_295del | NP_002440.2:p.Phe99ArgfsTer? | |
| NM_001363626.1:c.294_295del | NP_001350555.1:p.Phe99ArgfsTer29 | |
| NM_002449.5:c.294_295del MANE Select | NP_002440.2:p.Phe99ArgfsTer? | |
| NM_001363626.2:c.294_295del | NP_001350555.1:p.Phe99ArgfsTer29 |