Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63072915_63072916del , CM000670.2:g.63072915_63072916del | GRCh38 |
| NC_000008.10:g.63985474_63985475del , CM000670.1:g.63985474_63985475del | GRCh37 |
| NC_000008.9:g.64148028_64148029del | NCBI36 |
| NG_016123.1:g.18146_18147del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260116.5:c.358+27_358+28del MANE Select | ENSP00000260116.4:n.358+27_358+28del | |
| ENST00000260116.4:c.358+27_358+28del | ENSP00000260116.4:n.358+27_358+28del | |
| ENST00000521138.1:n.232+12910_232+12911del | ||
| NM_000370.3:c.358+27_358+28del MANE Select | NP_000361.1:n.358+27_358+28del | |
| XM_006716468.2:c.205-8592_205-8591del | XP_006716531.1:n.205-8592_205-8591del | |
| XM_006716468.4:c.205-8592_205-8591del | XP_006716531.1:n.205-8592_205-8591del |