Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107906786del , CM000668.2:g.107906786del | GRCh38 |
| NC_000006.11:g.108227990del , CM000668.1:g.108227990del | GRCh37 |
| NC_000006.10:g.108334683del | NCBI36 |
| NG_008270.1:g.56496del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.734-6del MANE Select | ENSP00000357998.4:n.734-6del | |
| ENST00000369002.8:c.734-6del | ENSP00000357998.4:n.734-6del | |
| ENST00000489455.1:n.234-6del | ||
| NM_007214.4:c.734-6del | NP_009145.1:n.734-6del | |
| XM_011535399.1:c.566-6del | XP_011533701.1:n.566-6del | |
| XM_017010218.2:c.-361-6del | XP_016865707.1:n.-361-6del | |
| NM_007214.5:c.734-6del MANE Select | NP_009145.1:n.734-6del |