Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117045del , CM000669.2:g.19117045del | GRCh38 |
| NC_000007.13:g.19156668del , CM000669.1:g.19156668del | GRCh37 |
| NC_000007.12:g.19123193del | NCBI36 |
| NG_008114.1:g.5628del | |
| NG_008114.2:g.5628del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.277del MANE Select | ENSP00000242261.5:p.Ser93AlafsTer? | |
| ENST00000242261.5:c.277del | ENSP00000242261.5:p.Ser93AlafsTer? | |
| ENST00000354571.5:c.74del | ||
| NM_000474.3:c.277del | NP_000465.1:p.Ser93AlafsTer? | |
| XM_011515496.1:c.277del | XP_011513798.1:p.Ser93AlafsTer? | |
| NR_149001.1:n.628del | ||
| NM_000474.4:c.277del MANE Select | NP_000465.1:p.Ser93AlafsTer? | |
| NR_149001.2:n.592del |