HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624135del , CM000679.2:g.41624135del | GRCh38 |
NC_000017.10:g.39780387del , CM000679.1:g.39780387del | GRCh37 |
NC_000017.9:g.37033913del | NCBI36 |
NG_008625.1:g.5499del | |
NG_009090.2:g.167581del , LRG_401:g.167581del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000311208.13:c.378del MANE Select | ENSP00000308452.8:p.Ala128ProfsTer? | |
ENST00000311208.12:c.378del | ENSP00000308452.8:p.Ala128ProfsTer? | |
ENST00000463128.5:c.-238del | ENSP00000468672.1:n.-238del | |
ENST00000491673.1:n.444del | ||
ENST00000493253.5:n.165del | ||
ENST00000540235.5:c.129del | ENSP00000441751.2:p.Ala45ProfsTer? | |
ENST00000577817.3:c.333del | ENSP00000467418.1:p.Ala113ProfsTer? | |
NM_000422.2:c.378del | NP_000413.1:p.Ala128ProfsTer? | |
NM_000422.3:c.378del MANE Select | NP_000413.1:p.Ala128ProfsTer? |