Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6016621del , CM000674.2:g.6016621del | GRCh38 |
| NC_000012.11:g.6125787del , CM000674.1:g.6125787del | GRCh37 |
| NC_000012.10:g.5996048del | NCBI36 |
| NG_009072.1:g.113051del | |
| NG_009072.2:g.113051del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.5207del MANE Select | NP_000543.3:p.Gly1736GlufsTer20 |
| ENST00000261405.10:c.5207del MANE Select | ENSP00000261405.5:p.Gly1736GlufsTer20 |
| NM_000552.3:c.5207del | NP_000543.2:p.Gly1736GlufsTer20 |
| NM_000552.4:c.5207del | NP_000543.2:p.Gly1736GlufsTer20 |
| ENST00000261405.9:c.5207del | ENSP00000261405.5:p.Gly1736GlufsTer20 |
| ENST00000538635.5:n.421-22686del |