Canonical Allele Identifier: CA8706140

Gene: PSMC5

Linked Data

• dbSNP Id: rs765641196
• ExAC: 17:61909363 GCT / G
• gnomAD v2: 17-61909363-GCT-G
• gnomAD v4: 17-63832003-GCT-G
• MyVariant Identifiers: chr17:g.61909364_61909365del (hg19) ; chr17:g.63832004_63832005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832006_63832007del , CM000679.2:g.63832006_63832007del	GRCh38
NC_000017.10:g.61909366_61909367del , CM000679.1:g.61909366_61909367del	GRCh37
NC_000017.9:g.59263098_59263099del	NCBI36
NG_053004.1:g.15987_15988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703608.1:c.*775_*776del	ENSP00000515392.1:n.*775_*776del
ENST00000703609.1:c.*37_*38del	ENSP00000515393.1:n.*37_*38del
ENST00000310144.11:c.*37_*38del MANE Select	ENSP00000310572.6:n.*37_*38del
ENST00000310144.10:c.*37_*38del	ENSP00000310572.6:n.*37_*38del
ENST00000375812.8:c.*37_*38del	ENSP00000364970.4:n.*37_*38del
ENST00000578570.5:n.1668_1669del
ENST00000579147.5:n.2573_2574del
ENST00000580864.5:c.*37_*38del	ENSP00000462495.1:n.*37_*38del
ENST00000584657.1:n.563_564del
NM_001199163.1:c.*37_*38del	NP_001186092.1:n.*37_*38del
NM_002805.5:c.*37_*38del	NP_002796.4:n.*37_*38del
XM_006721980.1:c.*37_*38del	XP_006722043.1:n.*37_*38del
XR_934508.1:n.1347_1348del
XM_024450840.1:c.*37_*38del	XP_024306608.1:n.*37_*38del
XM_024450841.1:c.*37_*38del	XP_024306609.1:n.*37_*38del
XR_934508.2:n.1334_1335del
NM_002805.6:c.*37_*38del MANE Select	NP_002796.4:n.*37_*38del
NM_001199163.2:c.*37_*38del	NP_001186092.1:n.*37_*38del