HGVS | Genome Assembly |
---|---|
NC_000002.12:g.149570091_149570106del , CM000664.2:g.149570091_149570106del | GRCh38 |
NC_000002.11:g.150426605_150426620del , CM000664.1:g.150426605_150426620del | GRCh37 |
NC_000002.10:g.150134851_150134866del | NCBI36 |
NG_009189.1:g.22711_22726del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303319.10:c.759_774del MANE Select | ENSP00000301920.5:p.Phe254LeufsTer6 | |
ENST00000303319.9:c.759_774del | ENSP00000301920.5:p.Phe254LeufsTer6 | |
ENST00000422782.2:c.861_876del | ENSP00000408331.2:p.Phe288LeufsTer6 | |
ENST00000428879.5:c.759_774del | ENSP00000389060.1:p.Phe254LeufsTer6 | |
NM_015702.2:c.759_774del | NP_056517.1:p.Phe254LeufsTer6 | |
NM_015702.3:c.759_774del MANE Select | NP_056517.1:p.Phe254LeufsTer6 |