Canonical Allele Identifier: CA2123796806

Gene: PSME2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146126_24146129delinsTGGG , CM000676.2:g.24146126_24146129delinsTGGG	GRCh38
NC_000014.8:g.24615335_24615338delinsTGGG , CM000676.1:g.24615335_24615338delinsTGGG	GRCh37
NC_000014.7:g.23685175_23685178delinsTGGG	NCBI36
NG_042234.1:g.4252_4255delinsTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216802.10:c.81+79_81+82delinsCCCA MANE Select	ENSP00000216802.5:n.81+79_81+82delinsCCCA
ENST00000216802.9:c.81+79_81+82delinsCCCA	ENSP00000216802.5:n.81+79_81+82delinsCCCA
ENST00000471700.6:n.79+79_79+82delinsCCCA
ENST00000558273.5:c.81+79_81+82delinsCCCA	ENSP00000453195.1:n.81+79_81+82delinsCCCA
ENST00000558931.5:n.837_840delinsCCCA
ENST00000559056.5:c.-151+79_-151+82delinsCCCA	ENSP00000452940.1:n.-151+79_-151+82delinsCCCA
ENST00000559453.5:n.110_113delinsCCCA
ENST00000559493.5:n.78+79_78+82delinsCCCA
ENST00000559613.1:n.129+79_129+82delinsCCCA
ENST00000560370.3:c.81+79_81+82delinsCCCA	ENSP00000453161.1:n.81+79_81+82delinsCCCA
ENST00000560410.5:c.49-357_49-354delinsCCCA	ENSP00000453487.1:n.49-357_49-354delinsCCCA
ENST00000560592.5:n.121+79_121+82delinsCCCA
ENST00000560788.1:n.175_178delinsCCCA
ENST00000615264.4:c.81+79_81+82delinsCCCA	ENSP00000484569.1:n.81+79_81+82delinsCCCA
ENST00000630027.1:c.81+79_81+82delinsCCCA	ENSP00000485798.1:n.81+79_81+82delinsCCCA
NM_002818.2:c.81+79_81+82delinsCCCA	NP_002809.2:n.81+79_81+82delinsCCCA
XM_006720213.1:c.-275+79_-275+82delinsCCCA	XP_006720276.1:n.-275+79_-275+82delinsCCCA
XM_006720213.2:c.-275+79_-275+82delinsCCCA	XP_006720276.1:n.-275+79_-275+82delinsCCCA
NM_002818.3:c.81+79_81+82delinsCCCA MANE Select	NP_002809.2:n.81+79_81+82delinsCCCA