HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869122_240869149del , CM000664.2:g.240869122_240869149del | GRCh38 |
NC_000002.11:g.241808539_241808566del , CM000664.1:g.241808539_241808566del | GRCh37 |
NC_000002.10:g.241457212_241457239del | NCBI36 |
NG_008005.1:g.5378_5405del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.166-48_166-21del MANE Select | ENSP00000302620.3:n.166-48_166-21del | |
ENST00000307503.3:c.166-48_166-21del | ENSP00000302620.3:n.166-48_166-21del | |
ENST00000472436.1:n.186-48_186-21del | ||
NM_000030.2:c.166-48_166-21del | NP_000021.1:n.166-48_166-21del | |
XR_924060.1:n.405+1089_405+1116del | ||
NM_000030.3:c.166-48_166-21del MANE Select | NP_000021.1:n.166-48_166-21del |