Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646756_68646765del , CM000666.2:g.68646756_68646765del | GRCh38 |
| NC_000004.11:g.69512474_69512483del , CM000666.1:g.69512474_69512483del | GRCh37 |
| NC_000004.10:g.69195069_69195078del | NCBI36 |
| NG_052676.1:g.29012_29021del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*339_*348del MANE Select | ENSP00000341045.5:n.*339_*348del | |
| ENST00000338206.5:c.*339_*348del | ENSP00000341045.5:n.*339_*348del | |
| ENST00000616841.4:c.1732+200_1732+209del | ENSP00000482004.1:n.1732+200_1732+209del | |
| NM_001076.3:c.*339_*348del | NP_001067.2:n.*339_*348del | |
| NM_001076.4:c.*339_*348del MANE Select | NP_001067.2:n.*339_*348del |