Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.107646821del , CM000667.2:g.107646821del | GRCh38 |
| NC_000005.9:g.106982522del , CM000667.1:g.106982522del | GRCh37 |
| NC_000005.8:g.107010421del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333274.11:c.125+23674del MANE Select | ENSP00000328777.6:n.125+23674del | |
| ENST00000333274.10:c.125+23674del | ENSP00000328777.6:n.125+23674del | |
| ENST00000504941.1:n.397+23674del | ||
| ENST00000509503.1:c.125+23674del | ENSP00000426989.1:n.125+23674del | |
| NM_001962.2:c.125+23674del | NP_001953.1:n.125+23674del | |
| XM_006714565.1:c.125+23674del | XP_006714628.1:n.125+23674del | |
| XM_006714565.3:c.125+23674del | XP_006714628.1:n.125+23674del | |
| NM_001962.3:c.125+23674del MANE Select | NP_001953.1:n.125+23674del |