Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98577888del , CM000671.2:g.98577888del | GRCh38 |
| NC_000009.11:g.101340170del , CM000671.1:g.101340170del | GRCh37 |
| NC_000009.10:g.100379991del | NCBI36 |
| NG_016426.1:g.136312del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.459+49del MANE Select | ENSP00000259455.2:n.459+49del | |
| ENST00000637410.1:n.237+49del | ||
| ENST00000637717.1:c.75+49del | ENSP00000490789.1:n.75+49del | |
| ENST00000259455.3:c.459+49del | ENSP00000259455.2:n.459+49del | |
| ENST00000634227.1:n.233+49del | ||
| NM_005458.7:c.459+49del | NP_005449.5:n.459+49del | |
| NM_005458.8:c.459+49del MANE Select | NP_005449.5:n.459+49del |