Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44118497_44118498del , CM000682.2:g.44118497_44118498del | GRCh38 |
| NC_000020.10:g.42747137_42747138del , CM000682.1:g.42747137_42747138del | GRCh37 |
| NC_000020.9:g.42180551_42180552del | NCBI36 |
| NG_031867.1:g.74081_74082del , LRG_394:g.74081_74082del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.1288+7_1288+8del MANE Select | ENSP00000362071.3:n.1288+7_1288+8del | |
| ENST00000372980.3:c.1288+7_1288+8del | ENSP00000362071.3:n.1288+7_1288+8del | |
| NM_020433.4:c.1288+7_1288+8del , LRG_394t1:c.1288+7_1288+8del | NP_065166.2:n.1288+7_1288+8del | |
| XM_006723832.2:c.1288+7_1288+8del | XP_006723895.1:n.1288+7_1288+8del | |
| NM_020433.5:c.1288+7_1288+8del MANE Select | NP_065166.2:n.1288+7_1288+8del |