Canonical Allele Identifier: CA8706136

Gene: PSMC5

Linked Data

• dbSNP Id: rs762192600
• ExAC: 17:61909349 ATC / A
• gnomAD v2: 17-61909349-ATC-A
• gnomAD v4: 17-63831989-ATC-A
• MyVariant Identifiers: chr17:g.61909350_61909351del (hg19) ; chr17:g.63831990_63831991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831994_63831995del , CM000679.2:g.63831994_63831995del	GRCh38
NC_000017.10:g.61909354_61909355del , CM000679.1:g.61909354_61909355del	GRCh37
NC_000017.9:g.59263086_59263087del	NCBI36
NG_053004.1:g.16001_16002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*443_*444del	ENSP00000464347.2:n.*443_*444del
ENST00000703608.1:c.*763_*764del	ENSP00000515392.1:n.*763_*764del
ENST00000703609.1:c.*25_*26del	ENSP00000515393.1:n.*25_*26del
ENST00000310144.11:c.*25_*26del MANE Select	ENSP00000310572.6:n.*25_*26del
ENST00000310144.10:c.*25_*26del	ENSP00000310572.6:n.*25_*26del
ENST00000375812.8:c.*25_*26del	ENSP00000364970.4:n.*25_*26del
ENST00000578570.5:n.1656_1657del
ENST00000579147.5:n.2561_2562del
ENST00000580864.5:c.*25_*26del	ENSP00000462495.1:n.*25_*26del
ENST00000584657.1:n.551_552del
NM_001199163.1:c.*25_*26del	NP_001186092.1:n.*25_*26del
NM_002805.5:c.*25_*26del	NP_002796.4:n.*25_*26del
XM_006721980.1:c.*25_*26del	XP_006722043.1:n.*25_*26del
XR_934508.1:n.1335_1336del
XM_024450840.1:c.*25_*26del	XP_024306608.1:n.*25_*26del
XM_024450841.1:c.*25_*26del	XP_024306609.1:n.*25_*26del
XR_934508.2:n.1322_1323del
NM_002805.6:c.*25_*26del MANE Select	NP_002796.4:n.*25_*26del
NM_001199163.2:c.*25_*26del	NP_001186092.1:n.*25_*26del