Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5949849_5949856del , CM000674.2:g.5949849_5949856del | GRCh38 |
| NC_000012.11:g.6059015_6059022del , CM000674.1:g.6059015_6059022del | GRCh37 |
| NC_000012.10:g.5929276_5929283del | NCBI36 |
| NG_009072.1:g.179819_179826del | |
| NG_009072.2:g.179819_179826del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.8187_8194del MANE Select | ENSP00000261405.5:p.Arg2730ValfsTer8 | |
| ENST00000261405.9:c.8187_8194del | ENSP00000261405.5:p.Arg2730ValfsTer8 | |
| NM_000552.3:c.8187_8194del | NP_000543.2:p.Arg2730ValfsTer8 | |
| NM_000552.4:c.8187_8194del | NP_000543.2:p.Arg2730ValfsTer8 | |
| NM_000552.5:c.8187_8194del MANE Select | NP_000543.3:p.Arg2730ValfsTer8 |