HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648218_69648219del , CM000673.2:g.69648218_69648219del | GRCh38 |
NC_000011.9:g.69462986_69462987del , CM000673.1:g.69462986_69462987del | GRCh37 |
NC_000011.8:g.69172167_69172168del | NCBI36 |
NG_007375.1:g.12114_12115del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.723+76_723+77del MANE Select | ENSP00000227507.2:n.723+76_723+77del | |
ENST00000227507.2:c.723+76_723+77del | ENSP00000227507.2:n.723+76_723+77del | |
ENST00000536559.1:c.*219_*220del | ENSP00000438482.1:n.*219_*220del | |
ENST00000542367.1:n.186+76_186+77del | ||
NM_053056.2:c.723+76_723+77del | NP_444284.1:n.723+76_723+77del | |
XM_006718653.2:c.747+76_747+77del | XP_006718716.1:n.747+76_747+77del | |
NM_053056.3:c.723+76_723+77del MANE Select | NP_444284.1:n.723+76_723+77del |