HGVS | Genome Assembly |
---|---|
NC_000002.12:g.216122116del , CM000664.2:g.216122116del | GRCh38 |
NC_000002.11:g.216986839del , CM000664.1:g.216986839del | GRCh37 |
NC_000002.10:g.216695084del | NCBI36 |
NG_029780.1:g.17820del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000392132.7:c.546del MANE Select | ENSP00000375977.2:p.Arg184AlafsTer2 | |
ENST00000392132.6:c.546del | ENSP00000375977.2:p.Arg184AlafsTer2 | |
ENST00000392133.7:c.546del | ENSP00000375978.3:p.Arg184AlafsTer2 | |
ENST00000460284.5:n.1088del | ||
NM_021141.3:c.546del | NP_066964.1:p.Arg184AlafsTer2 | |
NM_021141.4:c.546del MANE Select | NP_066964.1:p.Arg184AlafsTer2 |