Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44118415_44118417del , CM000682.2:g.44118415_44118417del | GRCh38 |
| NC_000020.10:g.42747055_42747057del , CM000682.1:g.42747055_42747057del | GRCh37 |
| NC_000020.9:g.42180469_42180471del | NCBI36 |
| NG_031867.1:g.74164_74166del , LRG_394:g.74164_74166del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.1288+90_1288+92del MANE Select | ENSP00000362071.3:n.1288+90_1288+92del | |
| ENST00000372980.3:c.1288+90_1288+92del | ENSP00000362071.3:n.1288+90_1288+92del | |
| NM_020433.4:c.1288+90_1288+92del , LRG_394t1:c.1288+90_1288+92del | NP_065166.2:n.1288+90_1288+92del | |
| XM_006723832.2:c.1288+90_1288+92del | XP_006723895.1:n.1288+90_1288+92del | |
| NM_020433.5:c.1288+90_1288+92del MANE Select | NP_065166.2:n.1288+90_1288+92del |