Canonical Allele Identifier: CA2639297887

Gene: PSMC5

Linked Data

• gnomAD v4: 17-63831947-C-CCATCAAGAAATTATGGAAGTGAGTGGACAGCCTTTGTGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831948_63831988dup , CM000679.2:g.63831948_63831988dup	GRCh38
NC_000017.10:g.61909308_61909348dup , CM000679.1:g.61909308_61909348dup	GRCh37
NC_000017.9:g.59263040_59263080dup	NCBI36
NG_053004.1:g.16004_16044dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*397_*437dup	ENSP00000464347.2:n.*397_*437dup
ENST00000703608.1:c.*717_*757dup	ENSP00000515392.1:n.*717_*757dup
ENST00000703609.1:c.1119_*19dup	ENSP00000515393.1:n.1119_*19dup
ENST00000703610.1:c.*477_*517dup	ENSP00000515394.1:n.*477_*517dup
ENST00000310144.11:c.1200_*19dup MANE Select	ENSP00000310572.6:n.1200_*19dup
ENST00000310144.10:c.1200_*19dup	ENSP00000310572.6:n.1200_*19dup
ENST00000375812.8:c.1176_*19dup	ENSP00000364970.4:n.1176_*19dup
ENST00000578570.5:n.1610_1650dup
ENST00000579147.5:n.2515_2555dup
ENST00000580864.5:c.1176_*19dup	ENSP00000462495.1:n.1176_*19dup
ENST00000584657.1:n.505_545dup
NM_001199163.1:c.1176_*19dup	NP_001186092.1:n.1176_*19dup
NM_002805.5:c.1200_*19dup	NP_002796.4:n.1200_*19dup
XM_006721980.1:c.1200_*19dup	XP_006722043.1:n.1200_*19dup
XR_934508.1:n.1289_1329dup
XM_024450840.1:c.1281_*19dup	XP_024306608.1:n.1281_*19dup
XM_024450841.1:c.1257_*19dup	XP_024306609.1:n.1257_*19dup
XR_934508.2:n.1276_1316dup
NM_002805.6:c.1200_*19dup MANE Select	NP_002796.4:n.1200_*19dup
NM_001199163.2:c.1176_*19dup	NP_001186092.1:n.1176_*19dup