HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48045948_48045949del , CM000675.2:g.48045948_48045949del | GRCh38 |
NC_000013.10:g.48620084_48620085del , CM000675.1:g.48620084_48620085del | GRCh37 |
NC_000013.9:g.47518085_47518086del | NCBI36 |
NG_047021.1:g.13382_13383del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258662.3:c.*149_*150del MANE Select | ENSP00000258662.1:n.*149_*150del | |
ENST00000258662.2:c.*149_*150del | ENSP00000258662.1:n.*149_*150del | |
NM_018283.2:c.*149_*150del | NP_060753.1:n.*149_*150del | |
NM_018283.3:c.*149_*150del | NP_060753.1:n.*149_*150del | |
NR_136687.1:n.718+106_718+107del | ||
NR_136688.1:n.675+149_675+150del | ||
NM_018283.4:c.*149_*150del MANE Select | NP_060753.1:n.*149_*150del | |
NR_136687.2:n.559+106_559+107del | ||
NR_136688.2:n.516+149_516+150del |