Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.96035661del , CM000674.2:g.96035661del | GRCh38 |
| NC_000012.11:g.96429439del , CM000674.1:g.96429439del | GRCh37 |
| NC_000012.10:g.94953570del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228740.6:c.-141del | ENSP00000228740.2:n.-141del | |
| ENST00000413268.6:c.88-6475del | ENSP00000395051.2:n.88-6475del | |
| ENST00000552789.5:c.88-6475del | ENSP00000449958.1:n.88-6475del | |
| NM_000895.2:c.-141del | NP_000886.1:n.-141del | |
| NM_001256643.1:c.88-6475del | NP_001243572.1:n.88-6475del | |
| NM_001256644.1:c.88-6475del | NP_001243573.1:n.88-6475del | |
| NR_132659.1:n.2del |