HGVS | Genome Assembly |
---|---|
NC_000013.11:g.20189161_20189163del , CM000675.2:g.20189161_20189163del | GRCh38 |
NC_000013.10:g.20763300_20763302del , CM000675.1:g.20763300_20763302del | GRCh37 |
NC_000013.9:g.19661300_19661302del | NCBI36 |
NG_008358.1:g.8818_8820del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382844.2:c.424_426del | ENSP00000372295.1:p.Phe142del | |
ENST00000382848.5:c.424_426del MANE Select | ENSP00000372299.4:p.Phe142del | |
ENST00000382844.1:c.424_426del | ENSP00000372295.1:p.Phe142del | |
ENST00000382848.4:c.424_426del | ENSP00000372299.4:p.Phe142del | |
NM_004004.5:c.424_426del | NP_003995.2:p.Phe142del | |
XM_011535049.1:c.424_426del | XP_011533351.1:p.Phe142del | |
XM_011535049.2:c.424_426del | XP_011533351.1:p.Phe142del | |
NM_004004.6:c.424_426del MANE Select | NP_003995.2:p.Phe142del |