Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21178460_21178463del , CM000674.2:g.21178460_21178463del | GRCh38 |
| NC_000012.11:g.21331394_21331397del , CM000674.1:g.21331394_21331397del | GRCh37 |
| NC_000012.10:g.21222661_21222664del | NCBI36 |
| NG_011745.1:g.52267_52270del , LRG_1022:g.52267_52270del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.482-116_482-113del MANE Select | ENSP00000256958.2:n.482-116_482-113del | |
| ENST00000256958.2:c.482-116_482-113del | ENSP00000256958.2:n.482-116_482-113del | |
| NM_006446.4:c.482-116_482-113del , LRG_1022t1:c.482-116_482-113del | NP_006437.3:n.482-116_482-113del | |
| NM_006446.5:c.482-116_482-113del MANE Select | NP_006437.3:n.482-116_482-113del |