Canonical Allele Identifier: CA985694641

Gene: PSMD12

Linked Data

• dbSNP Id: rs2042006945
• gnomAD v3: 17-67350444-CTA-C
• gnomAD v4: 17-67350444-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350445_67350446del , CM000679.2:g.67350445_67350446del	GRCh38
NC_000017.10:g.65346561_65346562del , CM000679.1:g.65346561_65346562del	GRCh37
NC_000017.9:g.62777023_62777024del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.298-110_298-109del MANE Select	ENSP00000348442.3:n.298-110_298-109del
ENST00000356126.7:c.298-110_298-109del	ENSP00000348442.3:n.298-110_298-109del
ENST00000357146.4:c.238-110_238-109del	ENSP00000349667.4:n.238-110_238-109del
ENST00000579365.5:c.*348-110_*348-109del	ENSP00000463017.1:n.*348-110_*348-109del
ENST00000581618.1:n.535-110_535-109del
ENST00000584008.5:c.*453-110_*453-109del	ENSP00000462525.1:n.*453-110_*453-109del
ENST00000584289.5:n.347-110_347-109del
NM_001316341.1:c.121-110_121-109del	NP_001303270.1:n.121-110_121-109del
NM_002816.3:c.298-110_298-109del	NP_002807.1:n.298-110_298-109del
NM_002816.4:c.298-110_298-109del	NP_002807.1:n.298-110_298-109del
NM_174871.2:c.238-110_238-109del	NP_777360.1:n.238-110_238-109del
NM_174871.3:c.238-110_238-109del	NP_777360.1:n.238-110_238-109del
XM_011525048.1:c.121-110_121-109del	XP_011523350.1:n.121-110_121-109del
XM_011525049.1:c.121-110_121-109del	XP_011523351.1:n.121-110_121-109del
XM_011525050.1:c.298-110_298-109del	XP_011523352.1:n.298-110_298-109del
XM_024450842.1:c.385-110_385-109del	XP_024306610.1:n.385-110_385-109del
XM_024450843.1:c.121-110_121-109del	XP_024306611.1:n.121-110_121-109del
XR_001752571.2:n.377-110_377-109del
NM_002816.5:c.298-110_298-109del MANE Select	NP_002807.1:n.298-110_298-109del
NM_001316341.2:c.121-110_121-109del	NP_001303270.1:n.121-110_121-109del
NM_174871.4:c.238-110_238-109del	NP_777360.1:n.238-110_238-109del