Canonical Allele Identifier: CA2547442997
Gene: PSMD12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.67350469_67350470insTGTTTTTTCTGTATTCAGAGATACTTAATGTATGTAG , CM000679.2:g.67350469_67350470insTGTTTTTTCTGTATTCAGAGATACTTAATGTATGTAG GRCh38
NC_000017.10:g.65346585_65346586insTGTTTTTTCTGTATTCAGAGATACTTAATGTATGTAG , CM000679.1:g.65346585_65346586insTGTTTTTTCTGTATTCAGAGATACTTAATGTATGTAG GRCh37
NC_000017.9:g.62777047_62777048insTGTTTTTTCTGTATTCAGAGATACTTAATGTATGTAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356126.8:c.298-134_298-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA MANE Select ENSP00000348442.3:n.298-134_298-133insCTACATACATTAAGTATCTCTGA...
ENST00000356126.7:c.298-134_298-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA ENSP00000348442.3:n.298-134_298-133insCTACATACATTAAGTATCTCTGA...
ENST00000357146.4:c.238-134_238-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA ENSP00000349667.4:n.238-134_238-133insCTACATACATTAAGTATCTCTGA...
ENST00000579365.5:c.*348-134_*348-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA ENSP00000463017.1:n.*348-134_*348-133insCTACATACATTAAGTATCTCT...
ENST00000581618.1:n.535-134_535-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA
ENST00000584008.5:c.*453-134_*453-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA ENSP00000462525.1:n.*453-134_*453-133insCTACATACATTAAGTATCTCT...
ENST00000584289.5:n.347-134_347-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA
NM_001316341.1:c.121-134_121-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA NP_001303270.1:n.121-134_121-133insCTACATACATTAAGTATCTCTGAATA...
NM_002816.3:c.298-134_298-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA NP_002807.1:n.298-134_298-133insCTACATACATTAAGTATCTCTGAATACAG...
NM_002816.4:c.298-134_298-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA NP_002807.1:n.298-134_298-133insCTACATACATTAAGTATCTCTGAATACAG...
NM_174871.2:c.238-134_238-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA NP_777360.1:n.238-134_238-133insCTACATACATTAAGTATCTCTGAATACAG...
NM_174871.3:c.238-134_238-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA NP_777360.1:n.238-134_238-133insCTACATACATTAAGTATCTCTGAATACAG...
XM_011525048.1:c.121-134_121-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA XP_011523350.1:n.121-134_121-133insCTACATACATTAAGTATCTCTGAATA...
XM_011525049.1:c.121-134_121-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA XP_011523351.1:n.121-134_121-133insCTACATACATTAAGTATCTCTGAATA...
XM_011525050.1:c.298-134_298-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA XP_011523352.1:n.298-134_298-133insCTACATACATTAAGTATCTCTGAATA...
XM_024450842.1:c.385-134_385-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA XP_024306610.1:n.385-134_385-133insCTACATACATTAAGTATCTCTGAATA...
XM_024450843.1:c.121-134_121-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA XP_024306611.1:n.121-134_121-133insCTACATACATTAAGTATCTCTGAATA...
XR_001752571.2:n.377-134_377-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA
NM_002816.5:c.298-134_298-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA MANE Select NP_002807.1:n.298-134_298-133insCTACATACATTAAGTATCTCTGAATACAG...
NM_001316341.2:c.121-134_121-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA NP_001303270.1:n.121-134_121-133insCTACATACATTAAGTATCTCTGAATA...
NM_174871.4:c.238-134_238-133insCTACATACATTAAGTATCTCTGAATACAGAAAAAACA NP_777360.1:n.238-134_238-133insCTACATACATTAAGTATCTCTGAATACAG...