Canonical Allele Identifier: CA2639451206

Gene: PSMD12

Linked Data

• gnomAD v4: 17-67350428-G-GGAAGACCAAGTTCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350428_67350429insGAAGACCAAGTTCGA , CM000679.2:g.67350428_67350429insGAAGACCAAGTTCGA	GRCh38
NC_000017.10:g.65346544_65346545insGAAGACCAAGTTCGA , CM000679.1:g.65346544_65346545insGAAGACCAAGTTCGA	GRCh37
NC_000017.9:g.62777006_62777007insGAAGACCAAGTTCGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.298-93_298-92insTCGAACTTGGTCTTC MANE Select	ENSP00000348442.3:n.298-93_298-92insTCGAACTTGGTCTTC
ENST00000356126.7:c.298-93_298-92insTCGAACTTGGTCTTC	ENSP00000348442.3:n.298-93_298-92insTCGAACTTGGTCTTC
ENST00000357146.4:c.238-93_238-92insTCGAACTTGGTCTTC	ENSP00000349667.4:n.238-93_238-92insTCGAACTTGGTCTTC
ENST00000579365.5:c.*348-93_*348-92insTCGAACTTGGTCTTC	ENSP00000463017.1:n.*348-93_*348-92insTCGAACTTGGTCTTC
ENST00000581618.1:n.535-93_535-92insTCGAACTTGGTCTTC
ENST00000584008.5:c.*453-93_*453-92insTCGAACTTGGTCTTC	ENSP00000462525.1:n.*453-93_*453-92insTCGAACTTGGTCTTC
ENST00000584289.5:n.347-93_347-92insTCGAACTTGGTCTTC
NM_001316341.1:c.121-93_121-92insTCGAACTTGGTCTTC	NP_001303270.1:n.121-93_121-92insTCGAACTTGGTCTTC
NM_002816.3:c.298-93_298-92insTCGAACTTGGTCTTC	NP_002807.1:n.298-93_298-92insTCGAACTTGGTCTTC
NM_002816.4:c.298-93_298-92insTCGAACTTGGTCTTC	NP_002807.1:n.298-93_298-92insTCGAACTTGGTCTTC
NM_174871.2:c.238-93_238-92insTCGAACTTGGTCTTC	NP_777360.1:n.238-93_238-92insTCGAACTTGGTCTTC
NM_174871.3:c.238-93_238-92insTCGAACTTGGTCTTC	NP_777360.1:n.238-93_238-92insTCGAACTTGGTCTTC
XM_011525048.1:c.121-93_121-92insTCGAACTTGGTCTTC	XP_011523350.1:n.121-93_121-92insTCGAACTTGGTCTTC
XM_011525049.1:c.121-93_121-92insTCGAACTTGGTCTTC	XP_011523351.1:n.121-93_121-92insTCGAACTTGGTCTTC
XM_011525050.1:c.298-93_298-92insTCGAACTTGGTCTTC	XP_011523352.1:n.298-93_298-92insTCGAACTTGGTCTTC
XM_024450842.1:c.385-93_385-92insTCGAACTTGGTCTTC	XP_024306610.1:n.385-93_385-92insTCGAACTTGGTCTTC
XM_024450843.1:c.121-93_121-92insTCGAACTTGGTCTTC	XP_024306611.1:n.121-93_121-92insTCGAACTTGGTCTTC
XR_001752571.2:n.377-93_377-92insTCGAACTTGGTCTTC
NM_002816.5:c.298-93_298-92insTCGAACTTGGTCTTC MANE Select	NP_002807.1:n.298-93_298-92insTCGAACTTGGTCTTC
NM_001316341.2:c.121-93_121-92insTCGAACTTGGTCTTC	NP_001303270.1:n.121-93_121-92insTCGAACTTGGTCTTC
NM_174871.4:c.238-93_238-92insTCGAACTTGGTCTTC	NP_777360.1:n.238-93_238-92insTCGAACTTGGTCTTC