Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845618del , CM000672.2:g.99845618del | GRCh38 |
| NC_000010.10:g.101605375del , CM000672.1:g.101605375del | GRCh37 |
| NC_000010.9:g.101595365del | NCBI36 |
| NG_011798.1:g.67913del | |
| NG_011798.2:g.68021del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3988-6del MANE Select | ENSP00000497274.1:n.3988-6del | |
| ENST00000649459.1:n.336-6del | ||
| ENST00000370449.8:c.3988-6del | ENSP00000359478.4:n.3988-6del | |
| NM_000392.4:c.3988-6del | NP_000383.1:n.3988-6del | |
| XM_006717630.2:c.3292-6del | XP_006717693.1:n.3292-6del | |
| XR_945604.1:n.4177-65del | ||
| XR_945605.1:n.4052-6del | ||
| NM_000392.5:c.3988-6del MANE Select | NP_000383.2:n.3988-6del | |
| XM_006717630.3:c.3292-6del | XP_006717693.1:n.3292-6del | |
| XR_945604.3:n.4231-65del | ||
| XR_945605.3:n.4104-6del |