Canonical Allele Identifier: CA627220986

Gene: PSMD12

Linked Data

• dbSNP Id: rs1456428866
• gnomAD v2: 17-65346498-AGCG-A
• gnomAD v4: 17-67350382-AGCG-A
• MyVariant Identifiers: chr17:g.65346499_65346501del (hg19) ; chr17:g.67350383_67350385del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350383_67350385del , CM000679.2:g.67350383_67350385del	GRCh38
NC_000017.10:g.65346499_65346501del , CM000679.1:g.65346499_65346501del	GRCh37
NC_000017.9:g.62776961_62776963del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.298-49_298-47del MANE Select	ENSP00000348442.3:n.298-49_298-47del
ENST00000356126.7:c.298-49_298-47del	ENSP00000348442.3:n.298-49_298-47del
ENST00000357146.4:c.238-49_238-47del	ENSP00000349667.4:n.238-49_238-47del
ENST00000579365.5:c.*348-49_*348-47del	ENSP00000463017.1:n.*348-49_*348-47del
ENST00000581618.1:n.535-49_535-47del
ENST00000584008.5:c.*453-49_*453-47del	ENSP00000462525.1:n.*453-49_*453-47del
ENST00000584289.5:n.347-49_347-47del
NM_001316341.1:c.121-49_121-47del	NP_001303270.1:n.121-49_121-47del
NM_002816.3:c.298-49_298-47del	NP_002807.1:n.298-49_298-47del
NM_002816.4:c.298-49_298-47del	NP_002807.1:n.298-49_298-47del
NM_174871.2:c.238-49_238-47del	NP_777360.1:n.238-49_238-47del
NM_174871.3:c.238-49_238-47del	NP_777360.1:n.238-49_238-47del
XM_011525048.1:c.121-49_121-47del	XP_011523350.1:n.121-49_121-47del
XM_011525049.1:c.121-49_121-47del	XP_011523351.1:n.121-49_121-47del
XM_011525050.1:c.298-49_298-47del	XP_011523352.1:n.298-49_298-47del
XM_024450842.1:c.385-49_385-47del	XP_024306610.1:n.385-49_385-47del
XM_024450843.1:c.121-49_121-47del	XP_024306611.1:n.121-49_121-47del
XR_001752571.2:n.377-49_377-47del
NM_002816.5:c.298-49_298-47del MANE Select	NP_002807.1:n.298-49_298-47del
NM_001316341.2:c.121-49_121-47del	NP_001303270.1:n.121-49_121-47del
NM_174871.4:c.238-49_238-47del	NP_777360.1:n.238-49_238-47del