Canonical Allele Identifier: CA2270102945

Gene: PSMC5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831981_63831983delinsTTG , CM000679.2:g.63831981_63831983delinsTTG	GRCh38
NC_000017.10:g.61909341_61909343delinsTTG , CM000679.1:g.61909341_61909343delinsTTG	GRCh37
NC_000017.9:g.59263073_59263075delinsTTG	NCBI36
NG_053004.1:g.16009_16011delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*430_*432delinsTTG	ENSP00000464347.2:n.*430_*432delinsTTG
ENST00000703608.1:c.*750_*752delinsTTG	ENSP00000515392.1:n.*750_*752delinsTTG
ENST00000703609.1:c.*12_*14delinsTTG	ENSP00000515393.1:n.*12_*14delinsTTG
ENST00000703610.1:c.*510_*512delinsTTG	ENSP00000515394.1:n.*510_*512delinsTTG
ENST00000310144.11:c.*12_*14delinsTTG MANE Select	ENSP00000310572.6:n.*12_*14delinsTTG
ENST00000310144.10:c.*12_*14delinsTTG	ENSP00000310572.6:n.*12_*14delinsTTG
ENST00000375812.8:c.*12_*14delinsTTG	ENSP00000364970.4:n.*12_*14delinsTTG
ENST00000578570.5:n.1643_1645delinsTTG
ENST00000579147.5:n.2548_2550delinsTTG
ENST00000580864.5:c.*12_*14delinsTTG	ENSP00000462495.1:n.*12_*14delinsTTG
ENST00000581882.5:c.*12_*14delinsTTG	ENSP00000463938.1:n.*12_*14delinsTTG
ENST00000584657.1:n.538_540delinsTTG
ENST00000585242.5:c.*1004_*1006delinsTTG	ENSP00000463107.1:n.*1004_*1006delinsTTG
NM_001199163.1:c.*12_*14delinsTTG	NP_001186092.1:n.*12_*14delinsTTG
NM_002805.5:c.*12_*14delinsTTG	NP_002796.4:n.*12_*14delinsTTG
XM_006721980.1:c.*12_*14delinsTTG	XP_006722043.1:n.*12_*14delinsTTG
XR_934508.1:n.1322_1324delinsTTG
XM_024450840.1:c.*12_*14delinsTTG	XP_024306608.1:n.*12_*14delinsTTG
XM_024450841.1:c.*12_*14delinsTTG	XP_024306609.1:n.*12_*14delinsTTG
XR_934508.2:n.1309_1311delinsTTG
NM_002805.6:c.*12_*14delinsTTG MANE Select	NP_002796.4:n.*12_*14delinsTTG
NM_001199163.2:c.*12_*14delinsTTG	NP_001186092.1:n.*12_*14delinsTTG