Canonical Allele Identifier: CA2639297900

Gene: PSMC5

Linked Data

• gnomAD v4: 17-63832009-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832011_63832012dup , CM000679.2:g.63832011_63832012dup	GRCh38
NC_000017.10:g.61909371_61909372dup , CM000679.1:g.61909371_61909372dup	GRCh37
NC_000017.9:g.59263103_59263104dup	NCBI36
NG_053004.1:g.15981_15982dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703608.1:c.*780_*781dup	ENSP00000515392.1:n.*780_*781dup
ENST00000703609.1:c.*42_*43dup	ENSP00000515393.1:n.*42_*43dup
ENST00000310144.11:c.*42_*43dup MANE Select	ENSP00000310572.6:n.*42_*43dup
ENST00000310144.10:c.*42_*43dup	ENSP00000310572.6:n.*42_*43dup
ENST00000375812.8:c.*42_*43dup	ENSP00000364970.4:n.*42_*43dup
ENST00000578570.5:n.1673_1674dup
ENST00000579147.5:n.2578_2579dup
ENST00000580864.5:c.*42_*43dup	ENSP00000462495.1:n.*42_*43dup
ENST00000584657.1:n.568_569dup
NM_001199163.1:c.*42_*43dup	NP_001186092.1:n.*42_*43dup
NM_002805.5:c.*42_*43dup	NP_002796.4:n.*42_*43dup
XM_006721980.1:c.*42_*43dup	XP_006722043.1:n.*42_*43dup
XR_934508.1:n.1352_1353dup
XM_024450840.1:c.*42_*43dup	XP_024306608.1:n.*42_*43dup
XM_024450841.1:c.*42_*43dup	XP_024306609.1:n.*42_*43dup
XR_934508.2:n.1339_1340dup
NM_002805.6:c.*42_*43dup MANE Select	NP_002796.4:n.*42_*43dup
NM_001199163.2:c.*42_*43dup	NP_001186092.1:n.*42_*43dup