HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48045818_48045828del , CM000675.2:g.48045818_48045828del | GRCh38 |
NC_000013.10:g.48619954_48619964del , CM000675.1:g.48619954_48619964del | GRCh37 |
NC_000013.9:g.47517955_47517965del | NCBI36 |
NG_047021.1:g.13252_13262del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258662.3:c.*19_*29del MANE Select | ENSP00000258662.1:n.*19_*29del | |
ENST00000258662.2:c.*19_*29del | ENSP00000258662.1:n.*19_*29del | |
NM_018283.2:c.*19_*29del | NP_060753.1:n.*19_*29del | |
NM_018283.3:c.*19_*29del | NP_060753.1:n.*19_*29del | |
NR_136687.1:n.694_704del | ||
NR_136688.1:n.675+19_675+29del | ||
NM_018283.4:c.*19_*29del MANE Select | NP_060753.1:n.*19_*29del | |
NR_136687.2:n.535_545del | ||
NR_136688.2:n.516+19_516+29del |