Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321364_143321368del , CM000669.2:g.143321364_143321368del | GRCh38 |
| NC_000007.13:g.143018457_143018461del , CM000669.1:g.143018457_143018461del | GRCh37 |
| NC_000007.12:g.142728579_142728583del | NCBI36 |
| NG_009815.1:g.10239_10243del | |
| NG_009815.2:g.10239_10243del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000083.2:c.434-1_437del | |
| NM_000083.3:c.434-1_437del | |
| NR_046453.1:n.521-1_524del | |
| NR_046453.2:n.536-1_539del | |
| ENST00000343257.6:c.434-1_437del | |
| ENST00000343257.7:c.434-1_437del | |
| ENST00000432192.6:c.202-1_205del | |
| ENST00000650516.1:c.434-1_437del | |
| ENST00000650516.2:c.434-1_437del | |
| XM_011515781.1:c.434-1_437del | |
| XM_017011739.1:c.141-1_144del | |
| XM_017011740.1:c.141-1_144del |