HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648192_69648194del , CM000673.2:g.69648192_69648194del | GRCh38 |
NC_000011.9:g.69462960_69462962del , CM000673.1:g.69462960_69462962del | GRCh37 |
NC_000011.8:g.69172141_69172143del | NCBI36 |
NG_007375.1:g.12088_12090del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.723+50_723+52del MANE Select | ENSP00000227507.2:n.723+50_723+52del | |
ENST00000227507.2:c.723+50_723+52del | ENSP00000227507.2:n.723+50_723+52del | |
ENST00000536559.1:c.*193_*195del | ENSP00000438482.1:n.*193_*195del | |
ENST00000542367.1:n.186+50_186+52del | ||
NM_053056.2:c.723+50_723+52del | NP_444284.1:n.723+50_723+52del | |
XM_006718653.2:c.747+50_747+52del | XP_006718716.1:n.747+50_747+52del | |
NM_053056.3:c.723+50_723+52del MANE Select | NP_444284.1:n.723+50_723+52del |