Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930010_119930012del , CM000685.2:g.119930010_119930012del | GRCh38 |
| NC_000023.10:g.119063973_119063975del , CM000685.1:g.119063973_119063975del | GRCh37 |
| NC_000023.9:g.118948001_118948003del | NCBI36 |
| NG_021260.1:g.18766_18768del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371410.5:c.1073+9_1073+11del MANE Select | ENSP00000360464.3:n.1073+9_1073+11del | |
| ENST00000652253.1:c.1069+9_1069+11del | ||
| ENST00000371410.4:c.1073+9_1073+11del | ENSP00000360464.3:n.1073+9_1073+11del | |
| ENST00000477789.5:n.2001+9_2001+11del | ||
| NM_024528.3:c.1073+9_1073+11del | NP_078804.2:n.1073+9_1073+11del | |
| XM_017029842.1:c.776+9_776+11del | XP_016885331.1:n.776+9_776+11del | |
| NM_024528.4:c.1073+9_1073+11del MANE Select | NP_078804.2:n.1073+9_1073+11del |