Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436699_67436709del , CM000678.2:g.67436699_67436709del | GRCh38 |
| NC_000016.9:g.67470602_67470612del , CM000678.1:g.67470602_67470612del | GRCh37 |
| NC_000016.8:g.66028103_66028113del | NCBI36 |
| NG_011482.1:g.49480_49490del | |
| NG_016549.1:g.10567_10577del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.914_924del MANE Select | ENSP00000316786.5:p.Gly305AlafsTer? | |
| ENST00000326152.5:c.914_924del | ENSP00000316786.5:p.Gly305AlafsTer? | |
| NM_000196.3:c.914_924del | NP_000187.3:p.Gly305AlafsTer? | |
| NM_000196.4:c.914_924del MANE Select | NP_000187.3:p.Gly305AlafsTer? |