Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085846_186085849del , CM000666.2:g.186085846_186085849del | GRCh38 |
| NC_000004.11:g.187007000_187007003del , CM000666.1:g.187007000_187007003del | GRCh37 |
| NC_000004.10:g.187243994_187243997del | NCBI36 |
| NG_007278.1:g.21692_21695del , LRG_117:g.21692_21695del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*3240_*3243del | ENSP00000513675.1:n.*3240_*3243del | |
| ENST00000698353.1:n.3563_3566del | ||
| ENST00000698354.1:c.*973_*976del | ENSP00000513676.1:n.*973_*976del | |
| ENST00000296795.8:c.*973_*976del MANE Select | ENSP00000296795.3:n.*973_*976del | |
| ENST00000296795.7:c.*973_*976del | ENSP00000296795.2:n.*973_*976del | |
| NM_003265.3:c.*973_*976del MANE Select | NP_003256.1:n.*973_*976del |