HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1213527del , CM000667.2:g.1213527del | GRCh38 |
NC_000005.9:g.1213642del , CM000667.1:g.1213642del | GRCh37 |
NC_000005.8:g.1266642del | NCBI36 |
NG_008282.1:g.16933del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000304460.11:c.728del MANE Select | ENSP00000305302.10:p.Thr243SerfsTer2 | |
ENST00000304460.10:c.728del | ENSP00000305302.10:p.Thr243SerfsTer2 | |
ENST00000515652.5:c.636del | ENSP00000425701.1:p.Asp212GlufsTer? | |
NM_001003841.2:c.728del | NP_001003841.1:p.Thr243SerfsTer2 | |
NM_001003841.3:c.728del MANE Select | NP_001003841.1:p.Thr243SerfsTer2 |