HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648220_69648221del , CM000673.2:g.69648220_69648221del | GRCh38 |
NC_000011.9:g.69462988_69462989del , CM000673.1:g.69462988_69462989del | GRCh37 |
NC_000011.8:g.69172169_69172170del | NCBI36 |
NG_007375.1:g.12116_12117del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.723+78_723+79del MANE Select | ENSP00000227507.2:n.723+78_723+79del | |
ENST00000227507.2:c.723+78_723+79del | ENSP00000227507.2:n.723+78_723+79del | |
ENST00000536559.1:c.*221_*222del | ENSP00000438482.1:n.*221_*222del | |
ENST00000542367.1:n.186+78_186+79del | ||
NM_053056.2:c.723+78_723+79del | NP_444284.1:n.723+78_723+79del | |
XM_006718653.2:c.747+78_747+79del | XP_006718716.1:n.747+78_747+79del | |
NM_053056.3:c.723+78_723+79del MANE Select | NP_444284.1:n.723+78_723+79del |