Canonical Allele Identifier: CA985694680

Gene: PSMD12

Linked Data

• dbSNP Id: rs2042007828
• gnomAD v3: 17-67350540-A-AT
• gnomAD v4: 17-67350540-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350540_67350541insT , CM000679.2:g.67350540_67350541insT	GRCh38
NC_000017.10:g.65346656_65346657insT , CM000679.1:g.65346656_65346657insT	GRCh37
NC_000017.9:g.62777118_62777119insT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.298-205_298-204insA MANE Select	ENSP00000348442.3:n.298-205_298-204insA
ENST00000356126.7:c.298-205_298-204insA	ENSP00000348442.3:n.298-205_298-204insA
ENST00000357146.4:c.238-205_238-204insA	ENSP00000349667.4:n.238-205_238-204insA
ENST00000579365.5:c.*348-205_*348-204insA	ENSP00000463017.1:n.*348-205_*348-204insA
ENST00000581618.1:n.535-205_535-204insA
ENST00000584008.5:c.*453-205_*453-204insA	ENSP00000462525.1:n.*453-205_*453-204insA
ENST00000584289.5:n.347-205_347-204insA
NM_001316341.1:c.121-205_121-204insA	NP_001303270.1:n.121-205_121-204insA
NM_002816.3:c.298-205_298-204insA	NP_002807.1:n.298-205_298-204insA
NM_002816.4:c.298-205_298-204insA	NP_002807.1:n.298-205_298-204insA
NM_174871.2:c.238-205_238-204insA	NP_777360.1:n.238-205_238-204insA
NM_174871.3:c.238-205_238-204insA	NP_777360.1:n.238-205_238-204insA
XM_011525048.1:c.121-205_121-204insA	XP_011523350.1:n.121-205_121-204insA
XM_011525049.1:c.121-205_121-204insA	XP_011523351.1:n.121-205_121-204insA
XM_011525050.1:c.298-205_298-204insA	XP_011523352.1:n.298-205_298-204insA
XM_024450842.1:c.385-205_385-204insA	XP_024306610.1:n.385-205_385-204insA
XM_024450843.1:c.121-205_121-204insA	XP_024306611.1:n.121-205_121-204insA
XR_001752571.2:n.377-205_377-204insA
NM_002816.5:c.298-205_298-204insA MANE Select	NP_002807.1:n.298-205_298-204insA
NM_001316341.2:c.121-205_121-204insA	NP_001303270.1:n.121-205_121-204insA
NM_174871.4:c.238-205_238-204insA	NP_777360.1:n.238-205_238-204insA