HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48045942_48045943del , CM000675.2:g.48045942_48045943del | GRCh38 |
NC_000013.10:g.48620078_48620079del , CM000675.1:g.48620078_48620079del | GRCh37 |
NC_000013.9:g.47518079_47518080del | NCBI36 |
NG_047021.1:g.13376_13377del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258662.3:c.*143_*144del MANE Select | ENSP00000258662.1:n.*143_*144del | |
ENST00000258662.2:c.*143_*144del | ENSP00000258662.1:n.*143_*144del | |
NM_018283.2:c.*143_*144del | NP_060753.1:n.*143_*144del | |
NM_018283.3:c.*143_*144del | NP_060753.1:n.*143_*144del | |
NR_136687.1:n.718+100_718+101del | ||
NR_136688.1:n.675+143_675+144del | ||
NM_018283.4:c.*143_*144del MANE Select | NP_060753.1:n.*143_*144del | |
NR_136687.2:n.559+100_559+101del | ||
NR_136688.2:n.516+143_516+144del |