Canonical Allele Identifier: CA2271700381
Gene: PSMD12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.67350277_67350278delinsAG , CM000679.2:g.67350277_67350278delinsAG GRCh38
NC_000017.10:g.65346393_65346394delinsAG , CM000679.1:g.65346393_65346394delinsAG GRCh37
NC_000017.9:g.62776855_62776856delinsAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356126.8:c.356_357delinsCT MANE Select ENSP00000348442.3:p.Pro119=
ENST00000356126.7:c.356_357delinsCT ENSP00000348442.3:p.Pro119=
ENST00000357146.4:c.296_297delinsCT ENSP00000349667.4:p.Pro99=
ENST00000581618.1:n.593_594delinsCT
ENST00000584008.5:c.*511_*512delinsCT ENSP00000462525.1:n.*511_*512delinsCT
ENST00000584289.5:n.405_406delinsCT
NM_001316341.1:c.179_180delinsCT NP_001303270.1:p.Pro60=
NM_002816.3:c.356_357delinsCT NP_002807.1:p.Pro119=
NM_002816.4:c.356_357delinsCT NP_002807.1:p.Pro119=
NM_174871.2:c.296_297delinsCT NP_777360.1:p.Pro99=
NM_174871.3:c.296_297delinsCT NP_777360.1:p.Pro99=
XM_011525048.1:c.179_180delinsCT XP_011523350.1:p.Pro60=
XM_011525049.1:c.179_180delinsCT XP_011523351.1:p.Pro60=
XM_011525050.1:c.356_357delinsCT XP_011523352.1:p.Pro119=
XM_024450842.1:c.443_444delinsCT XP_024306610.1:p.Pro148=
XM_024450843.1:c.179_180delinsCT XP_024306611.1:p.Pro60=
XR_001752571.2:n.435_436delinsCT
NM_002816.5:c.356_357delinsCT MANE Select NP_002807.1:p.Pro119=
NM_001316341.2:c.179_180delinsCT NP_001303270.1:p.Pro60=
NM_174871.4:c.296_297delinsCT NP_777360.1:p.Pro99=