HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7525144_7525158del , CM000681.2:g.7525144_7525158del | GRCh38 |
NC_000019.9:g.7590030_7590044del , CM000681.1:g.7590030_7590044del | GRCh37 |
NC_000019.8:g.7496030_7496044del | NCBI36 |
NG_015806.1:g.7535_7549del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.215_229del MANE Select | ENSP00000264079.5:p.Lys72_Val76del | |
ENST00000264079.10:c.215_229del | ENSP00000264079.5:p.Lys72_Val76del | |
ENST00000394321.9:n.295_309del | ||
ENST00000596390.1:n.331_345del | ||
ENST00000601003.1:c.215_229del | ENSP00000469074.1:p.Lys72_Val76del | |
NM_020533.2:c.215_229del | NP_065394.1:p.Lys72_Val76del | |
NM_020533.3:c.215_229del MANE Select | NP_065394.1:p.Lys72_Val76del |