Canonical Allele Identifier: CA627149426

Gene: PSMC5

Linked Data

• dbSNP Id: rs1208985168
• gnomAD v2: 17-61909210-CTG-C
• gnomAD v3: 17-63831850-CTG-C
• gnomAD v4: 17-63831850-CTG-C
• MyVariant Identifiers: chr17:g.61909211_61909212del (hg19) ; chr17:g.63831851_63831852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831851_63831852del , CM000679.2:g.63831851_63831852del	GRCh38
NC_000017.10:g.61909211_61909212del , CM000679.1:g.61909211_61909212del	GRCh37
NC_000017.9:g.59262943_59262944del	NCBI36
NG_053004.1:g.16140_16141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*364+41_*364+42del	ENSP00000464347.2:n.*364+41_*364+42del
ENST00000703608.1:c.*684+41_*684+42del	ENSP00000515392.1:n.*684+41_*684+42del
ENST00000703609.1:c.1086+41_1086+42del	ENSP00000515393.1:n.1086+41_1086+42del
ENST00000703610.1:c.*444+41_*444+42del	ENSP00000515394.1:n.*444+41_*444+42del
ENST00000310144.11:c.1167+41_1167+42del MANE Select	ENSP00000310572.6:n.1167+41_1167+42del
ENST00000310144.10:c.1167+41_1167+42del	ENSP00000310572.6:n.1167+41_1167+42del
ENST00000375812.8:c.1143+41_1143+42del	ENSP00000364970.4:n.1143+41_1143+42del
ENST00000578570.5:n.1577+41_1577+42del
ENST00000579147.5:n.2482+41_2482+42del
ENST00000580864.5:c.1143+41_1143+42del	ENSP00000462495.1:n.1143+41_1143+42del
ENST00000581882.5:c.1143+41_1143+42del	ENSP00000463938.1:n.1143+41_1143+42del
ENST00000584657.1:n.472+41_472+42del
ENST00000585242.5:c.*938+41_*938+42del	ENSP00000463107.1:n.*938+41_*938+42del
NM_001199163.1:c.1143+41_1143+42del	NP_001186092.1:n.1143+41_1143+42del
NM_002805.5:c.1167+41_1167+42del	NP_002796.4:n.1167+41_1167+42del
XM_006721980.1:c.1167+41_1167+42del	XP_006722043.1:n.1167+41_1167+42del
XR_934508.1:n.1256+41_1256+42del
XM_024450840.1:c.1248+41_1248+42del	XP_024306608.1:n.1248+41_1248+42del
XM_024450841.1:c.1224+41_1224+42del	XP_024306609.1:n.1224+41_1224+42del
XR_934508.2:n.1243+41_1243+42del
NM_002805.6:c.1167+41_1167+42del MANE Select	NP_002796.4:n.1167+41_1167+42del
NM_001199163.2:c.1143+41_1143+42del	NP_001186092.1:n.1143+41_1143+42del