HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215867074_215867077del , CM000663.2:g.215867074_215867077del | GRCh38 |
NC_000001.10:g.216040416_216040419del , CM000663.1:g.216040416_216040419del | GRCh37 |
NC_000001.9:g.214107039_214107042del | NCBI36 |
NG_009497.1:g.561324_561327del | |
NG_009497.2:g.561376_561379del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.8779_8782del MANE Select | ENSP00000305941.3:p.Arg2927GlufsTer16 | |
ENST00000674083.1:c.8779_8782del | ENSP00000501296.1:p.Arg2927GlufsTer16 | |
ENST00000307340.7:c.8779_8782del | ENSP00000305941.3:p.Arg2927GlufsTer16 | |
NM_206933.2:c.8779_8782del | NP_996816.2:p.Arg2927GlufsTer16 | |
NM_206933.3:c.8779_8782del | NP_996816.2:p.Arg2927GlufsTer16 | |
NM_206933.4:c.8779_8782del MANE Select | NP_996816.3:p.Arg2927GlufsTer16 |