Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046090_136046091del , CM000667.2:g.136046090_136046091del | GRCh38 |
| NC_000005.9:g.135381779_135381780del , CM000667.1:g.135381779_135381780del | GRCh37 |
| NC_000005.8:g.135409678_135409679del | NCBI36 |
| NG_012646.1:g.22196_22197del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.299-245_299-244del MANE Select | ENSP00000416330.2:n.299-245_299-244del | |
| ENST00000442011.6:c.299-245_299-244del | ENSP00000416330.2:n.299-245_299-244del | |
| ENST00000504185.5:n.456-245_456-244del | ||
| ENST00000506699.5:n.364-245_364-244del | ||
| ENST00000507018.5:c.216-245_216-244del | ||
| ENST00000515433.1:n.346_347del | ||
| NM_000358.2:c.299-245_299-244del | NP_000349.1:n.299-245_299-244del | |
| NM_000358.3:c.299-245_299-244del MANE Select | NP_000349.1:n.299-245_299-244del |