HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44286674_44286681del , CM000683.2:g.44286674_44286681del | GRCh38 |
NC_000021.8:g.45706557_45706564del , CM000683.1:g.45706557_45706564del | GRCh37 |
NC_000021.7:g.44530985_44530992del | NCBI36 |
NG_009556.1:g.5795_5802del , LRG_18:g.5795_5802del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000291582.6:c.250_257del MANE Select | ENSP00000291582.5:p.Asp84ProfsTer? | |
ENST00000291582.5:c.250_257del | ENSP00000291582.5:p.Asp84ProfsTer? | |
ENST00000527919.5:n.411_418del | ||
ENST00000530812.5:n.419_426del | ||
NM_000383.3:c.250_257del | NP_000374.1:p.Asp84ProfsTer? | |
XM_011529551.1:c.250_257del | XP_011527853.1:p.Asp84ProfsTer? | |
NM_000383.4:c.250_257del MANE Select | NP_000374.1:p.Asp84ProfsTer? |