HGVS | Genome Assembly |
---|---|
NC_000003.12:g.16598071del , CM000665.2:g.16598071del | GRCh38 |
NC_000003.11:g.16639578del , CM000665.1:g.16639578del | GRCh37 |
NC_000003.10:g.16614582del | NCBI36 |
NG_023329.1:g.12433del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399444.7:c.242+20del MANE Select | ENSP00000382373.3:n.242+20del | |
ENST00000250863.12:c.302+20del | ENSP00000250863.8:n.302+20del | |
ENST00000399444.6:c.242+20del | ENSP00000382373.2:n.242+20del | |
ENST00000454457.1:c.356+20del | ENSP00000398109.1:n.356+20del | |
NM_001190811.1:c.302+20del | NP_001177740.1:n.302+20del | |
NM_001351.3:c.242+20del | NP_001342.2:n.242+20del | |
NM_001351.4:c.242+20del MANE Select | NP_001342.2:n.242+20del | |
NM_001190811.2:c.302+20del | NP_001177740.1:n.302+20del |