HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137566857_137566861del , CM000685.2:g.137566857_137566861del | GRCh38 |
NC_000023.10:g.136649016_136649020del , CM000685.1:g.136649016_136649020del | GRCh37 |
NC_000023.9:g.136476682_136476686del | NCBI36 |
NG_008115.1:g.5671_5675del | |
NG_008115.2:g.5731_5735del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287538.10:c.166_170del MANE Select | ENSP00000287538.5:p.Phe56AlafsTer? | |
ENST00000287538.9:c.166_170del | ENSP00000287538.5:p.Phe56AlafsTer? | |
ENST00000370606.3:c.166_170del | ENSP00000359638.3:p.Phe56AlafsTer? | |
NM_003413.3:c.166_170del | NP_003404.1:p.Phe56AlafsTer? | |
NM_001330661.1:c.166_170del | NP_001317590.1:p.Phe56AlafsTer? | |
NM_003413.4:c.166_170del MANE Select | NP_003404.1:p.Phe56AlafsTer? |