Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853637_46853644del , CM000685.2:g.46853637_46853644del | GRCh38 |
| NC_000023.10:g.46713072_46713079del , CM000685.1:g.46713072_46713079del | GRCh37 |
| NC_000023.9:g.46598016_46598023del | NCBI36 |
| NG_009107.1:g.21726_21733del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.4:c.264_271del MANE Select | ENSP00000218340.3:p.Cys89PhefsTer? | |
| ENST00000218340.3:c.264_271del | ENSP00000218340.3:p.Cys89PhefsTer? | |
| NM_006915.2:c.264_271del | NP_008846.2:p.Cys89PhefsTer? | |
| NM_006915.3:c.264_271del MANE Select | NP_008846.2:p.Cys89PhefsTer? |