Canonical Allele Identifier: CA2270102952

Gene: PSMC5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831987_63831989delinsGTA , CM000679.2:g.63831987_63831989delinsGTA	GRCh38
NC_000017.10:g.61909347_61909349delinsGTA , CM000679.1:g.61909347_61909349delinsGTA	GRCh37
NC_000017.9:g.59263079_59263081delinsGTA	NCBI36
NG_053004.1:g.16003_16005delinsTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*436_*438delinsGTA	ENSP00000464347.2:n.*436_*438delinsGTA
ENST00000703608.1:c.*756_*758delinsGTA	ENSP00000515392.1:n.*756_*758delinsGTA
ENST00000703609.1:c.*18_*20delinsGTA	ENSP00000515393.1:n.*18_*20delinsGTA
ENST00000703610.1:c.*516_*518delinsGTA	ENSP00000515394.1:n.*516_*518delinsGTA
ENST00000310144.11:c.*18_*20delinsGTA MANE Select	ENSP00000310572.6:n.*18_*20delinsGTA
ENST00000310144.10:c.*18_*20delinsGTA	ENSP00000310572.6:n.*18_*20delinsGTA
ENST00000375812.8:c.*18_*20delinsGTA	ENSP00000364970.4:n.*18_*20delinsGTA
ENST00000578570.5:n.1649_1651delinsGTA
ENST00000579147.5:n.2554_2556delinsGTA
ENST00000580864.5:c.*18_*20delinsGTA	ENSP00000462495.1:n.*18_*20delinsGTA
ENST00000584657.1:n.544_546delinsGTA
NM_001199163.1:c.*18_*20delinsGTA	NP_001186092.1:n.*18_*20delinsGTA
NM_002805.5:c.*18_*20delinsGTA	NP_002796.4:n.*18_*20delinsGTA
XM_006721980.1:c.*18_*20delinsGTA	XP_006722043.1:n.*18_*20delinsGTA
XR_934508.1:n.1328_1330delinsGTA
XM_024450840.1:c.*18_*20delinsGTA	XP_024306608.1:n.*18_*20delinsGTA
XM_024450841.1:c.*18_*20delinsGTA	XP_024306609.1:n.*18_*20delinsGTA
XR_934508.2:n.1315_1317delinsGTA
NM_002805.6:c.*18_*20delinsGTA MANE Select	NP_002796.4:n.*18_*20delinsGTA
NM_001199163.2:c.*18_*20delinsGTA	NP_001186092.1:n.*18_*20delinsGTA