Canonical Allele Identifier: CA915952219

Gene: PSMD12

Linked Data

• ClinVar Variation Id: 817952
• ClinVar RCV Id: RCV001009185
• dbSNP Id: rs1598563750

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350279del , CM000679.2:g.67350279del	GRCh38
NC_000017.10:g.65346395del , CM000679.1:g.65346395del	GRCh37
NC_000017.9:g.62776857del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.356del MANE Select	ENSP00000348442.3:p.Pro119LeufsTer6
ENST00000356126.7:c.356del	ENSP00000348442.3:p.Pro119LeufsTer6
ENST00000357146.4:c.296del	ENSP00000349667.4:p.Pro99LeufsTer6
ENST00000581618.1:n.593del
ENST00000584008.5:c.*511del	ENSP00000462525.1:n.*511del
ENST00000584289.5:n.405del
NM_001316341.1:c.179del	NP_001303270.1:p.Pro60LeufsTer6
NM_002816.3:c.356del	NP_002807.1:p.Pro119LeufsTer6
NM_002816.4:c.356del	NP_002807.1:p.Pro119LeufsTer6
NM_174871.2:c.296del	NP_777360.1:p.Pro99LeufsTer6
NM_174871.3:c.296del	NP_777360.1:p.Pro99LeufsTer6
XM_011525048.1:c.179del	XP_011523350.1:p.Pro60LeufsTer6
XM_011525049.1:c.179del	XP_011523351.1:p.Pro60LeufsTer6
XM_011525050.1:c.356del	XP_011523352.1:p.Pro119LeufsTer6
XM_024450842.1:c.443del	XP_024306610.1:p.Pro148LeufsTer6
XM_024450843.1:c.179del	XP_024306611.1:p.Pro60LeufsTer6
XR_001752571.2:n.435del
NM_002816.5:c.356del MANE Select	NP_002807.1:p.Pro119LeufsTer6
NM_001316341.2:c.179del	NP_001303270.1:p.Pro60LeufsTer6
NM_174871.4:c.296del	NP_777360.1:p.Pro99LeufsTer6