Canonical Allele Identifier: CA2271700413

Gene: PSMD12

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350382_67350385delinsAGCG , CM000679.2:g.67350382_67350385delinsAGCG	GRCh38
NC_000017.10:g.65346498_65346501delinsAGCG , CM000679.1:g.65346498_65346501delinsAGCG	GRCh37
NC_000017.9:g.62776960_62776963delinsAGCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.298-49_298-46delinsCGCT MANE Select	ENSP00000348442.3:n.298-49_298-46delinsCGCT
ENST00000356126.7:c.298-49_298-46delinsCGCT	ENSP00000348442.3:n.298-49_298-46delinsCGCT
ENST00000357146.4:c.238-49_238-46delinsCGCT	ENSP00000349667.4:n.238-49_238-46delinsCGCT
ENST00000579365.5:c.*348-49_*348-46delinsCGCT	ENSP00000463017.1:n.*348-49_*348-46delinsCGCT
ENST00000581618.1:n.535-49_535-46delinsCGCT
ENST00000584008.5:c.*453-49_*453-46delinsCGCT	ENSP00000462525.1:n.*453-49_*453-46delinsCGCT
ENST00000584289.5:n.347-49_347-46delinsCGCT
NM_001316341.1:c.121-49_121-46delinsCGCT	NP_001303270.1:n.121-49_121-46delinsCGCT
NM_002816.3:c.298-49_298-46delinsCGCT	NP_002807.1:n.298-49_298-46delinsCGCT
NM_002816.4:c.298-49_298-46delinsCGCT	NP_002807.1:n.298-49_298-46delinsCGCT
NM_174871.2:c.238-49_238-46delinsCGCT	NP_777360.1:n.238-49_238-46delinsCGCT
NM_174871.3:c.238-49_238-46delinsCGCT	NP_777360.1:n.238-49_238-46delinsCGCT
XM_011525048.1:c.121-49_121-46delinsCGCT	XP_011523350.1:n.121-49_121-46delinsCGCT
XM_011525049.1:c.121-49_121-46delinsCGCT	XP_011523351.1:n.121-49_121-46delinsCGCT
XM_011525050.1:c.298-49_298-46delinsCGCT	XP_011523352.1:n.298-49_298-46delinsCGCT
XM_024450842.1:c.385-49_385-46delinsCGCT	XP_024306610.1:n.385-49_385-46delinsCGCT
XM_024450843.1:c.121-49_121-46delinsCGCT	XP_024306611.1:n.121-49_121-46delinsCGCT
XR_001752571.2:n.377-49_377-46delinsCGCT
NM_002816.5:c.298-49_298-46delinsCGCT MANE Select	NP_002807.1:n.298-49_298-46delinsCGCT
NM_001316341.2:c.121-49_121-46delinsCGCT	NP_001303270.1:n.121-49_121-46delinsCGCT
NM_174871.4:c.238-49_238-46delinsCGCT	NP_777360.1:n.238-49_238-46delinsCGCT