Canonical Allele Identifier: CA2271700408

Gene: PSMD12

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350372_67350375delinsTTCC , CM000679.2:g.67350372_67350375delinsTTCC	GRCh38
NC_000017.10:g.65346488_65346491delinsTTCC , CM000679.1:g.65346488_65346491delinsTTCC	GRCh37
NC_000017.9:g.62776950_62776953delinsTTCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.298-39_298-36delinsGGAA MANE Select	ENSP00000348442.3:n.298-39_298-36delinsGGAA
ENST00000356126.7:c.298-39_298-36delinsGGAA	ENSP00000348442.3:n.298-39_298-36delinsGGAA
ENST00000357146.4:c.238-39_238-36delinsGGAA	ENSP00000349667.4:n.238-39_238-36delinsGGAA
ENST00000579365.5:c.*348-39_*348-36delinsGGAA	ENSP00000463017.1:n.*348-39_*348-36delinsGGAA
ENST00000581618.1:n.535-39_535-36delinsGGAA
ENST00000584008.5:c.*453-39_*453-36delinsGGAA	ENSP00000462525.1:n.*453-39_*453-36delinsGGAA
ENST00000584289.5:n.347-39_347-36delinsGGAA
NM_001316341.1:c.121-39_121-36delinsGGAA	NP_001303270.1:n.121-39_121-36delinsGGAA
NM_002816.3:c.298-39_298-36delinsGGAA	NP_002807.1:n.298-39_298-36delinsGGAA
NM_002816.4:c.298-39_298-36delinsGGAA	NP_002807.1:n.298-39_298-36delinsGGAA
NM_174871.2:c.238-39_238-36delinsGGAA	NP_777360.1:n.238-39_238-36delinsGGAA
NM_174871.3:c.238-39_238-36delinsGGAA	NP_777360.1:n.238-39_238-36delinsGGAA
XM_011525048.1:c.121-39_121-36delinsGGAA	XP_011523350.1:n.121-39_121-36delinsGGAA
XM_011525049.1:c.121-39_121-36delinsGGAA	XP_011523351.1:n.121-39_121-36delinsGGAA
XM_011525050.1:c.298-39_298-36delinsGGAA	XP_011523352.1:n.298-39_298-36delinsGGAA
XM_024450842.1:c.385-39_385-36delinsGGAA	XP_024306610.1:n.385-39_385-36delinsGGAA
XM_024450843.1:c.121-39_121-36delinsGGAA	XP_024306611.1:n.121-39_121-36delinsGGAA
XR_001752571.2:n.377-39_377-36delinsGGAA
NM_002816.5:c.298-39_298-36delinsGGAA MANE Select	NP_002807.1:n.298-39_298-36delinsGGAA
NM_001316341.2:c.121-39_121-36delinsGGAA	NP_001303270.1:n.121-39_121-36delinsGGAA
NM_174871.4:c.238-39_238-36delinsGGAA	NP_777360.1:n.238-39_238-36delinsGGAA