Canonical Allele Identifier: CA2639451150

Gene: PSMD12

Linked Data

• gnomAD v4: 17-67350323-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350327del , CM000679.2:g.67350327del	GRCh38
NC_000017.10:g.65346443del , CM000679.1:g.65346443del	GRCh37
NC_000017.9:g.62776905del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.310del MANE Select	ENSP00000348442.3:p.Met104TrpfsTer21
ENST00000356126.7:c.310del	ENSP00000348442.3:p.Met104TrpfsTer21
ENST00000357146.4:c.250del	ENSP00000349667.4:p.Met84TrpfsTer21
ENST00000579365.5:c.*360del	ENSP00000463017.1:n.*360del
ENST00000581618.1:n.547del
ENST00000584008.5:c.*465del	ENSP00000462525.1:n.*465del
ENST00000584289.5:n.359del
NM_001316341.1:c.133del	NP_001303270.1:p.Met45TrpfsTer21
NM_002816.3:c.310del	NP_002807.1:p.Met104TrpfsTer21
NM_002816.4:c.310del	NP_002807.1:p.Met104TrpfsTer21
NM_174871.2:c.250del	NP_777360.1:p.Met84TrpfsTer21
NM_174871.3:c.250del	NP_777360.1:p.Met84TrpfsTer21
XM_011525048.1:c.133del	XP_011523350.1:p.Met45TrpfsTer21
XM_011525049.1:c.133del	XP_011523351.1:p.Met45TrpfsTer21
XM_011525050.1:c.310del	XP_011523352.1:p.Met104TrpfsTer21
XM_024450842.1:c.397del	XP_024306610.1:p.Met133TrpfsTer21
XM_024450843.1:c.133del	XP_024306611.1:p.Met45TrpfsTer21
XR_001752571.2:n.389del
NM_002816.5:c.310del MANE Select	NP_002807.1:p.Met104TrpfsTer21
NM_001316341.2:c.133del	NP_001303270.1:p.Met45TrpfsTer21
NM_174871.4:c.250del	NP_777360.1:p.Met84TrpfsTer21