HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48045612_48045613del , CM000675.2:g.48045612_48045613del | GRCh38 |
NC_000013.10:g.48619748_48619749del , CM000675.1:g.48619748_48619749del | GRCh37 |
NC_000013.9:g.47517749_47517750del | NCBI36 |
NG_047021.1:g.13046_13047del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258662.3:c.356-48_356-47del MANE Select | ENSP00000258662.1:n.356-48_356-47del | |
ENST00000258662.2:c.356-48_356-47del | ENSP00000258662.1:n.356-48_356-47del | |
NM_018283.2:c.356-48_356-47del | NP_060753.1:n.356-48_356-47del | |
NM_018283.3:c.356-48_356-47del | NP_060753.1:n.356-48_356-47del | |
NR_136687.1:n.536-48_536-47del | ||
NR_136688.1:n.536-48_536-47del | ||
NM_018283.4:c.356-48_356-47del MANE Select | NP_060753.1:n.356-48_356-47del | |
NR_136687.2:n.377-48_377-47del | ||
NR_136688.2:n.377-48_377-47del |