HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52033553_52033556del , CM000666.2:g.52033553_52033556del | GRCh38 |
NC_000004.11:g.52899719_52899722del , CM000666.1:g.52899719_52899722del | GRCh37 |
NC_000004.10:g.52594476_52594479del | NCBI36 |
NG_008891.1:g.9764_9767del , LRG_204:g.9764_9767del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.118_121del MANE Select | ENSP00000370839.6:p.Phe40LysfsTer17 | |
ENST00000381431.9:c.118_121del | ENSP00000370839.5:p.Phe40LysfsTer17 | |
ENST00000506357.5:c.104_107del | ||
ENST00000514133.1:c.85_88del | ENSP00000425818.1:p.Phe29LysfsTer17 | |
NM_000232.4:c.118_121del , LRG_204t1:c.118_121del | NP_000223.1:p.Phe40LysfsTer17 | |
XM_011534403.1:c.34-3693_34-3690del | XP_011532705.1:n.34-3693_34-3690del | |
NM_000232.5:c.118_121del MANE Select | NP_000223.1:p.Phe40LysfsTer17 |