Canonical Allele Identifier: CA774332730

Gene: PSMD12

Linked Data

• dbSNP Id: rs1286120286
• gnomAD v3: 17-67350530-A-ATACT
• gnomAD v4: 17-67350530-A-ATACT
• MyVariant Identifiers: chr17:g.65346646_65346647insTACT (hg19) ; chr17:g.67350530_67350531insTACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350530_67350531insTACT , CM000679.2:g.67350530_67350531insTACT	GRCh38
NC_000017.10:g.65346646_65346647insTACT , CM000679.1:g.65346646_65346647insTACT	GRCh37
NC_000017.9:g.62777108_62777109insTACT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.298-195_298-194insAGTA MANE Select	ENSP00000348442.3:n.298-195_298-194insAGTA
ENST00000356126.7:c.298-195_298-194insAGTA	ENSP00000348442.3:n.298-195_298-194insAGTA
ENST00000357146.4:c.238-195_238-194insAGTA	ENSP00000349667.4:n.238-195_238-194insAGTA
ENST00000579365.5:c.*348-195_*348-194insAGTA	ENSP00000463017.1:n.*348-195_*348-194insAGTA
ENST00000581618.1:n.535-195_535-194insAGTA
ENST00000584008.5:c.*453-195_*453-194insAGTA	ENSP00000462525.1:n.*453-195_*453-194insAGTA
ENST00000584289.5:n.347-195_347-194insAGTA
NM_001316341.1:c.121-195_121-194insAGTA	NP_001303270.1:n.121-195_121-194insAGTA
NM_002816.3:c.298-195_298-194insAGTA	NP_002807.1:n.298-195_298-194insAGTA
NM_002816.4:c.298-195_298-194insAGTA	NP_002807.1:n.298-195_298-194insAGTA
NM_174871.2:c.238-195_238-194insAGTA	NP_777360.1:n.238-195_238-194insAGTA
NM_174871.3:c.238-195_238-194insAGTA	NP_777360.1:n.238-195_238-194insAGTA
XM_011525048.1:c.121-195_121-194insAGTA	XP_011523350.1:n.121-195_121-194insAGTA
XM_011525049.1:c.121-195_121-194insAGTA	XP_011523351.1:n.121-195_121-194insAGTA
XM_011525050.1:c.298-195_298-194insAGTA	XP_011523352.1:n.298-195_298-194insAGTA
XM_024450842.1:c.385-195_385-194insAGTA	XP_024306610.1:n.385-195_385-194insAGTA
XM_024450843.1:c.121-195_121-194insAGTA	XP_024306611.1:n.121-195_121-194insAGTA
XR_001752571.2:n.377-195_377-194insAGTA
NM_002816.5:c.298-195_298-194insAGTA MANE Select	NP_002807.1:n.298-195_298-194insAGTA
NM_001316341.2:c.121-195_121-194insAGTA	NP_001303270.1:n.121-195_121-194insAGTA
NM_174871.4:c.238-195_238-194insAGTA	NP_777360.1:n.238-195_238-194insAGTA