Canonical Allele Identifier: CA2639297882

Gene: PSMC5

Linked Data

• gnomAD v4: 17-63831897-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831904_63831905del , CM000679.2:g.63831904_63831905del	GRCh38
NC_000017.10:g.61909264_61909265del , CM000679.1:g.61909264_61909265del	GRCh37
NC_000017.9:g.59262996_59262997del	NCBI36
NG_053004.1:g.16093_16094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*365-12_*365-11del	ENSP00000464347.2:n.*365-12_*365-11del
ENST00000703608.1:c.*685-12_*685-11del	ENSP00000515392.1:n.*685-12_*685-11del
ENST00000703609.1:c.1087-12_1087-11del	ENSP00000515393.1:n.1087-12_1087-11del
ENST00000703610.1:c.*445-12_*445-11del	ENSP00000515394.1:n.*445-12_*445-11del
ENST00000310144.11:c.1168-12_1168-11del MANE Select	ENSP00000310572.6:n.1168-12_1168-11del
ENST00000310144.10:c.1168-12_1168-11del	ENSP00000310572.6:n.1168-12_1168-11del
ENST00000375812.8:c.1144-12_1144-11del	ENSP00000364970.4:n.1144-12_1144-11del
ENST00000578570.5:n.1578-12_1578-11del
ENST00000579147.5:n.2483-12_2483-11del
ENST00000580864.5:c.1144-12_1144-11del	ENSP00000462495.1:n.1144-12_1144-11del
ENST00000581882.5:c.1144-12_1144-11del	ENSP00000463938.1:n.1144-12_1144-11del
ENST00000584657.1:n.473-12_473-11del
ENST00000585242.5:c.*939-12_*939-11del	ENSP00000463107.1:n.*939-12_*939-11del
NM_001199163.1:c.1144-12_1144-11del	NP_001186092.1:n.1144-12_1144-11del
NM_002805.5:c.1168-12_1168-11del	NP_002796.4:n.1168-12_1168-11del
XM_006721980.1:c.1168-12_1168-11del	XP_006722043.1:n.1168-12_1168-11del
XR_934508.1:n.1257-12_1257-11del
XM_024450840.1:c.1249-12_1249-11del	XP_024306608.1:n.1249-12_1249-11del
XM_024450841.1:c.1225-12_1225-11del	XP_024306609.1:n.1225-12_1225-11del
XR_934508.2:n.1244-12_1244-11del
NM_002805.6:c.1168-12_1168-11del MANE Select	NP_002796.4:n.1168-12_1168-11del
NM_001199163.2:c.1144-12_1144-11del	NP_001186092.1:n.1144-12_1144-11del