Canonical Allele Identifier: CA2270102884

Gene: PSMC5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831850_63831852delinsCTG , CM000679.2:g.63831850_63831852delinsCTG	GRCh38
NC_000017.10:g.61909210_61909212delinsCTG , CM000679.1:g.61909210_61909212delinsCTG	GRCh37
NC_000017.9:g.59262942_59262944delinsCTG	NCBI36
NG_053004.1:g.16140_16142delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*364+40_*364+42delinsCTG	ENSP00000464347.2:n.*364+40_*364+42delinsCTG
ENST00000703608.1:c.*684+40_*684+42delinsCTG	ENSP00000515392.1:n.*684+40_*684+42delinsCTG
ENST00000703609.1:c.1086+40_1086+42delinsCTG	ENSP00000515393.1:n.1086+40_1086+42delinsCTG
ENST00000703610.1:c.*444+40_*444+42delinsCTG	ENSP00000515394.1:n.*444+40_*444+42delinsCTG
ENST00000310144.11:c.1167+40_1167+42delinsCTG MANE Select	ENSP00000310572.6:n.1167+40_1167+42delinsCTG
ENST00000310144.10:c.1167+40_1167+42delinsCTG	ENSP00000310572.6:n.1167+40_1167+42delinsCTG
ENST00000375812.8:c.1143+40_1143+42delinsCTG	ENSP00000364970.4:n.1143+40_1143+42delinsCTG
ENST00000578570.5:n.1577+40_1577+42delinsCTG
ENST00000579147.5:n.2482+40_2482+42delinsCTG
ENST00000580864.5:c.1143+40_1143+42delinsCTG	ENSP00000462495.1:n.1143+40_1143+42delinsCTG
ENST00000581882.5:c.1143+40_1143+42delinsCTG	ENSP00000463938.1:n.1143+40_1143+42delinsCTG
ENST00000584657.1:n.472+40_472+42delinsCTG
ENST00000585242.5:c.*938+40_*938+42delinsCTG	ENSP00000463107.1:n.*938+40_*938+42delinsCTG
NM_001199163.1:c.1143+40_1143+42delinsCTG	NP_001186092.1:n.1143+40_1143+42delinsCTG
NM_002805.5:c.1167+40_1167+42delinsCTG	NP_002796.4:n.1167+40_1167+42delinsCTG
XM_006721980.1:c.1167+40_1167+42delinsCTG	XP_006722043.1:n.1167+40_1167+42delinsCTG
XR_934508.1:n.1256+40_1256+42delinsCTG
XM_024450840.1:c.1248+40_1248+42delinsCTG	XP_024306608.1:n.1248+40_1248+42delinsCTG
XM_024450841.1:c.1224+40_1224+42delinsCTG	XP_024306609.1:n.1224+40_1224+42delinsCTG
XR_934508.2:n.1243+40_1243+42delinsCTG
NM_002805.6:c.1167+40_1167+42delinsCTG MANE Select	NP_002796.4:n.1167+40_1167+42delinsCTG
NM_001199163.2:c.1143+40_1143+42delinsCTG	NP_001186092.1:n.1143+40_1143+42delinsCTG