Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007409_25007410del , CM000685.2:g.25007409_25007410del | GRCh38 |
| NC_000023.10:g.25025526_25025527del , CM000685.1:g.25025526_25025527del | GRCh37 |
| NC_000023.9:g.24935447_24935448del | NCBI36 |
| NG_008281.1:g.13541_13542del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139058.3:c.1151_1152del MANE Select | NP_620689.1:p.Arg384GlnfsTer? |
| ENST00000379044.5:c.1151_1152del MANE Select | ENSP00000368332.4:p.Arg384GlnfsTer? |
| NM_139058.2:c.1151_1152del | NP_620689.1:p.Arg384GlnfsTer? |
| ENST00000379044.4:c.1151_1152del | ENSP00000368332.4:p.Arg384GlnfsTer? |