Canonical Allele Identifier: CA627149428

Gene: PSMC5

Linked Data

• dbSNP Id: rs1452995734
• gnomAD v2: 17-61909230-A-ATG
• gnomAD v3: 17-63831870-A-ATG
• gnomAD v4: 17-63831870-A-ATG
• MyVariant Identifiers: chr17:g.61909230_61909231insTG (hg19) ; chr17:g.63831870_63831871insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831878_63831879dup , CM000679.2:g.63831878_63831879dup	GRCh38
NC_000017.10:g.61909238_61909239dup , CM000679.1:g.61909238_61909239dup	GRCh37
NC_000017.9:g.59262970_59262971dup	NCBI36
NG_053004.1:g.16120_16121dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*365-38_*365-37dup	ENSP00000464347.2:n.*365-38_*365-37dup
ENST00000703608.1:c.*685-38_*685-37dup	ENSP00000515392.1:n.*685-38_*685-37dup
ENST00000703609.1:c.1087-38_1087-37dup	ENSP00000515393.1:n.1087-38_1087-37dup
ENST00000703610.1:c.*445-38_*445-37dup	ENSP00000515394.1:n.*445-38_*445-37dup
ENST00000310144.11:c.1168-38_1168-37dup MANE Select	ENSP00000310572.6:n.1168-38_1168-37dup
ENST00000310144.10:c.1168-38_1168-37dup	ENSP00000310572.6:n.1168-38_1168-37dup
ENST00000375812.8:c.1144-38_1144-37dup	ENSP00000364970.4:n.1144-38_1144-37dup
ENST00000578570.5:n.1578-38_1578-37dup
ENST00000579147.5:n.2483-38_2483-37dup
ENST00000580864.5:c.1144-38_1144-37dup	ENSP00000462495.1:n.1144-38_1144-37dup
ENST00000581882.5:c.1144-38_1144-37dup	ENSP00000463938.1:n.1144-38_1144-37dup
ENST00000584657.1:n.473-38_473-37dup
ENST00000585242.5:c.*939-38_*939-37dup	ENSP00000463107.1:n.*939-38_*939-37dup
NM_001199163.1:c.1144-38_1144-37dup	NP_001186092.1:n.1144-38_1144-37dup
NM_002805.5:c.1168-38_1168-37dup	NP_002796.4:n.1168-38_1168-37dup
XM_006721980.1:c.1168-38_1168-37dup	XP_006722043.1:n.1168-38_1168-37dup
XR_934508.1:n.1257-38_1257-37dup
XM_024450840.1:c.1249-38_1249-37dup	XP_024306608.1:n.1249-38_1249-37dup
XM_024450841.1:c.1225-38_1225-37dup	XP_024306609.1:n.1225-38_1225-37dup
XR_934508.2:n.1244-38_1244-37dup
NM_002805.6:c.1168-38_1168-37dup MANE Select	NP_002796.4:n.1168-38_1168-37dup
NM_001199163.2:c.1144-38_1144-37dup	NP_001186092.1:n.1144-38_1144-37dup