Canonical Allele Identifier: CA8723764

Gene: PSMD12

Linked Data

• dbSNP Id: rs769405447
• ExAC: 17:65346298 G / GA
• gnomAD v2: 17-65346298-G-GA
• gnomAD v3: 17-67350182-G-GA
• gnomAD v4: 17-67350182-G-GA
• MyVariant Identifiers: chr17:g.65346298_65346299insA (hg19) ; chr17:g.67350182_67350183insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350188dup , CM000679.2:g.67350188dup	GRCh38
NC_000017.10:g.65346304dup , CM000679.1:g.65346304dup	GRCh37
NC_000017.9:g.62776766dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.405+46dup MANE Select	ENSP00000348442.3:n.405+46dup
ENST00000356126.7:c.405+46dup	ENSP00000348442.3:n.405+46dup
ENST00000357146.4:c.345+46dup	ENSP00000349667.4:n.345+46dup
ENST00000584008.5:c.*560+46dup	ENSP00000462525.1:n.*560+46dup
ENST00000584289.5:n.454+46dup
NM_001316341.1:c.228+46dup	NP_001303270.1:n.228+46dup
NM_002816.3:c.405+46dup	NP_002807.1:n.405+46dup
NM_002816.4:c.405+46dup	NP_002807.1:n.405+46dup
NM_174871.2:c.345+46dup	NP_777360.1:n.345+46dup
NM_174871.3:c.345+46dup	NP_777360.1:n.345+46dup
XM_011525048.1:c.228+46dup	XP_011523350.1:n.228+46dup
XM_011525049.1:c.228+46dup	XP_011523351.1:n.228+46dup
XM_011525050.1:c.405+46dup	XP_011523352.1:n.405+46dup
XM_024450842.1:c.492+46dup	XP_024306610.1:n.492+46dup
XM_024450843.1:c.228+46dup	XP_024306611.1:n.228+46dup
XR_001752571.2:n.484+46dup
NM_002816.5:c.405+46dup MANE Select	NP_002807.1:n.405+46dup
NM_001316341.2:c.228+46dup	NP_001303270.1:n.228+46dup
NM_174871.4:c.345+46dup	NP_777360.1:n.345+46dup