Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992922del , CM000667.2:g.177992922del | GRCh38 |
| NC_000005.9:g.177419923del , CM000667.1:g.177419923del | GRCh37 |
| NC_000005.8:g.177352529del | NCBI36 |
| NG_015889.1:g.8322del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.469del MANE Select | ENSP00000311290.2:p.Tyr157ThrfsTer8 | |
| NM_006261.4:c.469del | NP_006252.3:p.Tyr157ThrfsTer8 | |
| NM_006261.5:c.469del MANE Select | NP_006252.4:p.Tyr157ThrfsTer8 |