Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313829_30313831del , CM000672.2:g.30313829_30313831del | GRCh38 |
| NC_000010.10:g.30602758_30602760del , CM000672.1:g.30602758_30602760del | GRCh37 |
| NC_000010.9:g.30642764_30642766del | NCBI36 |
| NG_028096.1:g.40511_40513del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263063.9:c.1530_1532del MANE Select | ENSP00000263063.3:p.Gln511del | |
| ENST00000263063.8:c.1530_1532del | ENSP00000263063.3:p.Gln511del | |
| ENST00000488290.5:n.3285_3287del | ||
| NM_018109.3:c.1530_1532del | NP_060579.3:p.Gln511del | |
| NM_018109.4:c.1530_1532del MANE Select | NP_060579.3:p.Gln511del |