Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117183_19117208del , CM000669.2:g.19117183_19117208del | GRCh38 |
| NC_000007.13:g.19156806_19156831del , CM000669.1:g.19156806_19156831del | GRCh37 |
| NC_000007.12:g.19123331_19123356del | NCBI36 |
| NG_008114.1:g.5471_5496del | |
| NG_008114.2:g.5471_5496del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.120_145del MANE Select | ENSP00000242261.5:p.Ser41ArgfsTer? | |
| ENST00000242261.5:c.120_145del | ENSP00000242261.5:p.Ser41ArgfsTer? | |
| NM_000474.3:c.120_145del | NP_000465.1:p.Ser41ArgfsTer? | |
| XM_011515496.1:c.120_145del | XP_011513798.1:p.Ser41ArgfsTer? | |
| NR_149001.1:n.471_496del | ||
| NM_000474.4:c.120_145del MANE Select | NP_000465.1:p.Ser41ArgfsTer? | |
| NR_149001.2:n.435_460del |