HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667307del , CM000683.2:g.31667307del | GRCh38 |
NC_000021.8:g.33039620del , CM000683.1:g.33039620del | GRCh37 |
NC_000021.7:g.31961491del | NCBI36 |
NG_008689.1:g.12686del , LRG_652:g.12686del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.289del MANE Select | ENSP00000270142.7:p.Asp97MetfsTer8 | |
ENST00000270142.10:c.289del | ENSP00000270142.6:p.Asp97MetfsTer8 | |
ENST00000389995.4:c.232del | ENSP00000374645.4:p.Asp78MetfsTer8 | |
ENST00000470944.1:n.1217del | ||
ENST00000476106.5:n.552del | ||
NM_000454.4:c.289del , LRG_652t1:c.289del | NP_000445.1:p.Asp97MetfsTer8 | |
NM_000454.5:c.289del MANE Select | NP_000445.1:p.Asp97MetfsTer8 |