HGVS | Genome Assembly |
---|---|
NC_000023.11:g.78117918_78117921del , CM000685.2:g.78117918_78117921del | GRCh38 |
NC_000023.10:g.77373415_77373418del , CM000685.1:g.77373415_77373418del | GRCh37 |
NC_000023.9:g.77260071_77260074del | NCBI36 |
NG_008862.1:g.18750_18753del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373316.5:c.522-133_522-130del MANE Select | ENSP00000362413.4:n.522-133_522-130del | |
ENST00000644362.1:c.438-133_438-130del | ENSP00000496140.1:n.438-133_438-130del | |
ENST00000373316.4:c.522-133_522-130del | ENSP00000362413.4:n.522-133_522-130del | |
ENST00000491291.1:n.514-133_514-130del | ||
NM_000291.3:c.522-133_522-130del | NP_000282.1:n.522-133_522-130del | |
NM_000291.4:c.522-133_522-130del MANE Select | NP_000282.1:n.522-133_522-130del |