Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046259_136046262del , CM000667.2:g.136046259_136046262del | GRCh38 |
| NC_000005.9:g.135381948_135381951del , CM000667.1:g.135381948_135381951del | GRCh37 |
| NC_000005.8:g.135409847_135409850del | NCBI36 |
| NG_012646.1:g.22365_22368del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.299-76_299-73del MANE Select | ENSP00000416330.2:n.299-76_299-73del | |
| ENST00000442011.6:c.299-76_299-73del | ENSP00000416330.2:n.299-76_299-73del | |
| ENST00000504185.5:n.456-76_456-73del | ||
| ENST00000506699.5:n.364-76_364-73del | ||
| ENST00000507018.5:c.216-76_216-73del | ||
| ENST00000515433.1:n.515_518del | ||
| NM_000358.2:c.299-76_299-73del | NP_000349.1:n.299-76_299-73del | |
| NM_000358.3:c.299-76_299-73del MANE Select | NP_000349.1:n.299-76_299-73del |