Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176094478del , CM000664.2:g.176094478del | GRCh38 |
| NC_000002.11:g.176959206del , CM000664.1:g.176959206del | GRCh37 |
| NC_000002.10:g.176667452del | NCBI36 |
| NG_008137.1:g.6675del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000523.4:c.782-2del MANE Select | NP_000514.2:n.782-2del |
| ENST00000392539.4:c.782-2del MANE Select | ENSP00000376322.3:n.782-2del |
| NM_000523.3:c.782-2del | NP_000514.2:n.782-2del |
| ENST00000392539.3:c.782-2del | ENSP00000376322.3:n.782-2del |
| XM_011511068.1:c.725-2del | XP_011509370.1:n.725-2del |
| XM_011511068.2:c.725-2del | XP_011509370.1:n.725-2del |