HGVS | Genome Assembly |
---|---|
NC_000005.10:g.150848265_150848267del , CM000667.2:g.150848265_150848267del | GRCh38 |
NC_000005.9:g.150227827_150227829del , CM000667.1:g.150227827_150227829del | GRCh37 |
NC_000005.8:g.150208020_150208022del | NCBI36 |
NG_027809.1:g.6743_6745del | |
NG_027809.2:g.6743_6745del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000522154.2:c.142_144del MANE Select | ENSP00000428220.1:p.Thr48del | |
ENST00000522154.1:c.142_144del | ENSP00000428220.1:p.Thr48del | |
NM_001145805.1:c.142_144del | NP_001139277.1:p.Thr48del | |
XM_011537641.1:c.142_144del | XP_011535943.1:p.Thr48del | |
NM_001346557.1:c.142_144del | NP_001333486.1:p.Thr48del | |
NM_001346557.2:c.142_144del | NP_001333486.1:p.Thr48del | |
NM_001145805.2:c.142_144del MANE Select | NP_001139277.1:p.Thr48del | |
NR_170598.1:n.1257_1259del |