HGVS | Genome Assembly |
---|---|
NC_000022.11:g.36564815del , CM000684.2:g.36564815del | GRCh38 |
NC_000022.10:g.36960862del , CM000684.1:g.36960862del | GRCh37 |
NC_000022.9:g.35290808del | NCBI36 |
NG_031861.1:g.142833del | |
NG_031861.2:g.143048del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000300105.7:c.512del MANE Select | ENSP00000300105.6:p.Lys171ArgfsTer? | |
ENST00000300105.6:c.512del | ENSP00000300105.6:p.Lys171ArgfsTer? | |
NM_006078.3:c.512del | NP_006069.1:p.Lys171ArgfsTer? | |
NM_006078.4:c.512del | NP_006069.1:p.Lys171ArgfsTer? | |
XM_017028531.2:c.254del | XP_016884020.1:p.Lys85ArgfsTer? | |
NM_001379051.1:c.443del | NP_001365980.1:p.Lys148ArgfsTer? | |
NM_006078.5:c.512del MANE Select | NP_006069.1:p.Lys171ArgfsTer? | |
NR_166440.1:n.1878del |