HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173428_173433del , CM000678.2:g.173428_173433del | GRCh38 |
NC_000016.9:g.223427_223432del , CM000678.1:g.223427_223432del | GRCh37 |
NC_000016.8:g.163427_163432del | NCBI36 |
NG_000006.1:g.34291_34296del | |
NG_059186.1:g.1778_1783del | |
NG_059271.1:g.5582_5587del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.301-44_301-39del MANE Select | ENSP00000251595.6:n.301-44_301-39del | |
ENST00000251595.10:c.301-44_301-39del | ENSP00000251595.6:n.301-44_301-39del | |
ENST00000397806.1:c.205-44_205-39del | ENSP00000380908.1:n.205-44_205-39del | |
ENST00000482565.1:n.437-44_437-39del | ||
ENST00000484216.1:n.368_373del | ||
NM_000517.4:c.301-44_301-39del | NP_000508.1:n.301-44_301-39del | |
NM_000517.6:c.301-44_301-39del MANE Select | NP_000508.1:n.301-44_301-39del |