HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624484del , CM000679.2:g.41624484del | GRCh38 |
NC_000017.10:g.39780736del , CM000679.1:g.39780736del | GRCh37 |
NC_000017.9:g.37034262del | NCBI36 |
NG_008625.1:g.5148del | |
NG_009090.2:g.167230del , LRG_401:g.167230del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.27del MANE Select | ENSP00000308452.8:p.Ser10ProfsTer? | |
ENST00000311208.12:c.27del | ENSP00000308452.8:p.Ser10ProfsTer? | |
ENST00000463128.5:c.-313+260del | ENSP00000468672.1:n.-313+260del | |
ENST00000491673.1:n.93del | ||
ENST00000540235.5:c.-179del | ENSP00000441751.2:n.-179del | |
NM_000422.2:c.27del | NP_000413.1:p.Ser10ProfsTer? | |
NM_000422.3:c.27del MANE Select | NP_000413.1:p.Ser10ProfsTer? |