HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648176_69648182del , CM000673.2:g.69648176_69648182del | GRCh38 |
NC_000011.9:g.69462944_69462950del , CM000673.1:g.69462944_69462950del | GRCh37 |
NC_000011.8:g.69172125_69172131del | NCBI36 |
NG_007375.1:g.12072_12078del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.723+34_723+40del MANE Select | ENSP00000227507.2:n.723+34_723+40del | |
ENST00000227507.2:c.723+34_723+40del | ENSP00000227507.2:n.723+34_723+40del | |
ENST00000536559.1:c.*177_*183del | ENSP00000438482.1:n.*177_*183del | |
ENST00000542367.1:n.186+34_186+40del | ||
NM_053056.2:c.723+34_723+40del | NP_444284.1:n.723+34_723+40del | |
XM_006718653.2:c.747+34_747+40del | XP_006718716.1:n.747+34_747+40del | |
NM_053056.3:c.723+34_723+40del MANE Select | NP_444284.1:n.723+34_723+40del |