HGVS | Genome Assembly |
---|---|
NC_000001.11:g.100539558_100539575del , CM000663.2:g.100539558_100539575del | GRCh38 |
NC_000001.10:g.101005114_101005131del , CM000663.1:g.101005114_101005131del | GRCh37 |
NC_000001.9:g.100777702_100777719del | NCBI36 |
NG_053134.1:g.6387_6404del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000315033.5:c.592_609del MANE Select | ENSP00000314223.4:p.Ala198_Ala203del | |
ENST00000315033.4:c.592_609del | ENSP00000314223.4:p.Ala198_Ala203del | |
NM_022049.2:c.592_609del | NP_071332.2:p.Ala198_Ala203del | |
NM_022049.3:c.592_609del MANE Select | NP_071332.2:p.Ala198_Ala203del |