HGVS | Genome Assembly |
---|---|
NC_000017.11:g.73196556del , CM000679.2:g.73196556del | GRCh38 |
NC_000017.10:g.71192695del , CM000679.1:g.71192695del | GRCh37 |
NC_000017.9:g.68704290del | NCBI36 |
NG_008971.1:g.8523del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299886.9:c.365del MANE Select | ENSP00000299886.4:p.Lys122SerfsTer4 | |
ENST00000299886.8:c.365del | ENSP00000299886.4:p.Lys122SerfsTer4 | |
ENST00000438720.7:c.363del | ||
ENST00000582587.2:c.362del | ||
ENST00000618996.4:c.365del | ENSP00000479450.1:p.Lys122SerfsTer4 | |
NM_018714.2:c.365del | NP_061184.1:p.Lys122SerfsTer4 | |
NM_018714.3:c.365del MANE Select | NP_061184.1:p.Lys122SerfsTer4 |