Canonical Allele Identifier: CA2576354244

Gene: PSMC5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831896_63831899del , CM000679.2:g.63831896_63831899del	GRCh38
NC_000017.10:g.61909256_61909259del , CM000679.1:g.61909256_61909259del	GRCh37
NC_000017.9:g.59262988_59262991del	NCBI36
NG_053004.1:g.16096_16099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*365-20_*365-17del	ENSP00000464347.2:n.*365-20_*365-17del
ENST00000703608.1:c.*685-20_*685-17del	ENSP00000515392.1:n.*685-20_*685-17del
ENST00000703609.1:c.1087-20_1087-17del	ENSP00000515393.1:n.1087-20_1087-17del
ENST00000703610.1:c.*445-20_*445-17del	ENSP00000515394.1:n.*445-20_*445-17del
ENST00000310144.11:c.1168-20_1168-17del MANE Select	ENSP00000310572.6:n.1168-20_1168-17del
ENST00000310144.10:c.1168-20_1168-17del	ENSP00000310572.6:n.1168-20_1168-17del
ENST00000375812.8:c.1144-20_1144-17del	ENSP00000364970.4:n.1144-20_1144-17del
ENST00000578570.5:n.1578-20_1578-17del
ENST00000579147.5:n.2483-20_2483-17del
ENST00000580864.5:c.1144-20_1144-17del	ENSP00000462495.1:n.1144-20_1144-17del
ENST00000581882.5:c.1144-20_1144-17del	ENSP00000463938.1:n.1144-20_1144-17del
ENST00000584657.1:n.473-20_473-17del
ENST00000585242.5:c.*939-20_*939-17del	ENSP00000463107.1:n.*939-20_*939-17del
NM_001199163.1:c.1144-20_1144-17del	NP_001186092.1:n.1144-20_1144-17del
NM_002805.5:c.1168-20_1168-17del	NP_002796.4:n.1168-20_1168-17del
XM_006721980.1:c.1168-20_1168-17del	XP_006722043.1:n.1168-20_1168-17del
XR_934508.1:n.1257-20_1257-17del
XM_024450840.1:c.1249-20_1249-17del	XP_024306608.1:n.1249-20_1249-17del
XM_024450841.1:c.1225-20_1225-17del	XP_024306609.1:n.1225-20_1225-17del
XR_934508.2:n.1244-20_1244-17del
NM_002805.6:c.1168-20_1168-17del MANE Select	NP_002796.4:n.1168-20_1168-17del
NM_001199163.2:c.1144-20_1144-17del	NP_001186092.1:n.1144-20_1144-17del