Canonical Allele Identifier: CA7007354

Gene: FBXL3 CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77007556del , CM000675.2:g.77007556del	GRCh38
NC_000013.10:g.77581691del , CM000675.1:g.77581691del	GRCh37
NC_000013.9:g.76479692del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_012158.4:c.884del (FBXL3) MANE Select	NP_036290.1:p.Leu295TyrfsTer25
ENST00000355619.10:c.884del (FBXL3) MANE Select	ENSP00000347834.5:p.Leu295TyrfsTer25
NM_012158.2:c.884del (FBXL3)	NP_036290.1:p.Leu295TyrfsTer25
NM_012158.3:c.884del (FBXL3)	NP_036290.1:p.Leu295TyrfsTer25
ENST00000355619.9:c.884del (FBXL3)	ENSP00000347834.5:p.Leu295TyrfsTer25
ENST00000477982.2:n.260-5499del (FBXL3)
ENST00000485797.2:n.173+7861del (FBXL3)
ENST00000635838.1:c.174+11429del
ENST00000635905.1:n.567-1188del (CLN5)
ENST00000636525.2:c.566-1188del (CLN5)	ENSP00000490078.2:n.566-1188del
ENST00000636767.2:c.566-1188del (CLN5)	ENSP00000489855.2:n.566-1188del
ENST00000637192.1:c.213+11429del
ENST00000637397.2:c.566-1188del (CLN5)	ENSP00000490422.2:n.566-1188del
ENST00000638101.1:c.169+11429del	ENSP00000490535.1:n.169+11429del
ENST00000638147.2:c.565+11429del	ENSP00000490953.2:n.565+11429del
XM_005266336.1:c.884del (FBXL3)	XP_005266393.1:p.Leu295TyrfsTer25
XM_005266337.2:c.428del (FBXL3)	XP_005266394.1:p.Leu143TyrfsTer25
XM_005266337.3:c.428del (FBXL3)	XP_005266394.1:p.Leu143TyrfsTer25
XM_011535036.1:c.1082del (FBXL3)	XP_011533338.1:p.Leu361TyrfsTer25
XM_011535037.1:c.842-5499del (FBXL3)	XP_011533339.1:n.842-5499del
XM_017020538.2:c.643+7861del (FBXL3)	XP_016876027.1:n.643+7861del