Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675451_52675471del , CM000674.2:g.52675451_52675471del | GRCh38 |
| NC_000012.11:g.53069235_53069255del , CM000674.1:g.53069235_53069255del | GRCh37 |
| NC_000012.10:g.51355502_51355522del | NCBI36 |
| NG_008364.1:g.9949_9969del | |
| NG_008364.2:g.9949_9969del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006121.4:c.1669_1689del MANE Select | NP_006112.3:p.Ser557_Gly563del |
| ENST00000252244.3:c.1669_1689del MANE Select | ENSP00000252244.3:p.Ser557_Gly563del |
| NM_006121.3:c.1669_1689del | NP_006112.3:p.Ser557_Gly563del |