Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117281_19117283del , CM000669.2:g.19117281_19117283del | GRCh38 |
| NC_000007.13:g.19156904_19156906del , CM000669.1:g.19156904_19156906del | GRCh37 |
| NC_000007.12:g.19123429_19123431del | NCBI36 |
| NG_008114.1:g.5394_5396del | |
| NG_008114.2:g.5394_5396del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.43_45del MANE Select | ENSP00000242261.5:p.Asp15del | |
| ENST00000242261.5:c.43_45del | ENSP00000242261.5:p.Asp15del | |
| NM_000474.3:c.43_45del | NP_000465.1:p.Asp15del | |
| XM_011515496.1:c.43_45del | XP_011513798.1:p.Asp15del | |
| NR_149001.1:n.394_396del | ||
| NM_000474.4:c.43_45del MANE Select | NP_000465.1:p.Asp15del | |
| NR_149001.2:n.358_360del |