Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26104132del , CM000668.2:g.26104132del | GRCh38 |
| NC_000006.11:g.26104360del , CM000668.1:g.26104360del | GRCh37 |
| NC_000006.10:g.26212339del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003542.4:c.185del (H4C3) MANE Select | NP_003533.1:p.Phe62SerfsTer2 |
| ENST00000377803.4:c.185del (H4C3) MANE Select | ENSP00000367034.3:p.Phe62SerfsTer2 |
| NM_003542.3:c.185del (H4C3) | NP_003533.1:p.Phe62SerfsTer2 |
| ENST00000377803.3:c.185del (H4C3) | ENSP00000367034.2:p.Phe62SerfsTer2 |
| ENST00000629531.1:c.132+19644del (H2BC3) | ENSP00000486472.1:n.132+19644del |
| ENST00000707188.1:c.391-13095del (H2BC4) | ENSP00000516775.1:n.391-13095del |