Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15239907del , CM000681.2:g.15239907del | GRCh38 |
| NC_000019.9:g.15350718del , CM000681.1:g.15350718del | GRCh37 |
| NC_000019.8:g.15211718del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379291.1:c.3282+4del MANE Select | NP_001366220.1:n.3282+4del |
| ENST00000679869.1:c.3282+4del MANE Select | ENSP00000506350.1:n.3282+4del |
| NM_058243.2:c.3282+4del | NP_490597.1:n.3282+4del |
| NM_058243.3:c.3282+4del | NP_490597.1:n.3282+4del |
| ENST00000263377.6:c.3282+4del | ENSP00000263377.1:n.3282+4del |
| XM_011527854.1:c.3282+4del | XP_011526156.1:n.3282+4del |
| XM_011527854.2:c.3282+4del | XP_011526156.1:n.3282+4del |