HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173463_173467del , CM000678.2:g.173463_173467del | GRCh38 |
NC_000016.9:g.223462_223466del , CM000678.1:g.223462_223466del | GRCh37 |
NC_000016.8:g.163462_163466del | NCBI36 |
NG_000006.1:g.34326_34330del | |
NG_059186.1:g.1813_1817del | |
NG_059271.1:g.5617_5621del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.301-9_301-5del MANE Select | ENSP00000251595.6:n.301-9_301-5del | |
ENST00000251595.10:c.301-9_301-5del | ENSP00000251595.6:n.301-9_301-5del | |
ENST00000397806.1:c.205-9_205-5del | ENSP00000380908.1:n.205-9_205-5del | |
ENST00000482565.1:n.437-9_437-5del | ||
NM_000517.4:c.301-9_301-5del | NP_000508.1:n.301-9_301-5del | |
NM_000517.6:c.301-9_301-5del MANE Select | NP_000508.1:n.301-9_301-5del |