HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648198_69648199dup , CM000673.2:g.69648198_69648199dup | GRCh38 |
NC_000011.9:g.69462966_69462967dup , CM000673.1:g.69462966_69462967dup | GRCh37 |
NC_000011.8:g.69172147_69172148dup | NCBI36 |
NG_007375.1:g.12094_12095dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.723+56_723+57dup MANE Select | ENSP00000227507.2:n.723+56_723+57dup | |
ENST00000227507.2:c.723+56_723+57dup | ENSP00000227507.2:n.723+56_723+57dup | |
ENST00000536559.1:c.*199_*200dup | ENSP00000438482.1:n.*199_*200dup | |
ENST00000542367.1:n.186+56_186+57dup | ||
NM_053056.2:c.723+56_723+57dup | NP_444284.1:n.723+56_723+57dup | |
XM_006718653.2:c.747+56_747+57dup | XP_006718716.1:n.747+56_747+57dup | |
NM_053056.3:c.723+56_723+57dup MANE Select | NP_444284.1:n.723+56_723+57dup |