Canonical Allele Identifier: CA2623304240

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77000657-C-CTATACAA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000658_77000664dup , CM000675.2:g.77000658_77000664dup	GRCh38
NC_000013.10:g.77574793_77574799dup , CM000675.1:g.77574793_77574799dup	GRCh37
NC_000013.9:g.76472794_76472800dup	NCBI36
NG_009064.1:g.13735_13741dup , LRG_692:g.13735_13741dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.766_772dup (CLN5) MANE Select	ENSP00000366673.5:p.Arg258IlefsTer17
ENST00000616833.6:c.*208_*214dup (CLN5)	ENSP00000479547.3:n.*208_*214dup
ENST00000635838.1:c.174+4531_174+4537dup
ENST00000635905.1:n.566+4531_566+4537dup (CLN5)
ENST00000635915.1:c.764_770dup (CLN5)
ENST00000636183.2:c.766_772dup (CLN5)	ENSP00000490181.2:p.Arg258IlefsTer17
ENST00000636525.2:c.565+4531_565+4537dup (CLN5)	ENSP00000490078.2:n.565+4531_565+4537dup
ENST00000636681.1:c.*457_*463dup (CLN5)	ENSP00000489922.1:n.*457_*463dup
ENST00000636705.1:c.602_608dup (CLN5)
ENST00000636767.2:c.565+4531_565+4537dup (CLN5)	ENSP00000489855.2:n.565+4531_565+4537dup
ENST00000636780.2:c.*215_*221dup (CLN5)	ENSP00000489809.2:n.*215_*221dup
ENST00000637192.1:c.213+4531_213+4537dup
ENST00000637278.1:n.1092_1098dup (CLN5)
ENST00000637397.2:c.565+4531_565+4537dup (CLN5)	ENSP00000490422.2:n.565+4531_565+4537dup
ENST00000638101.1:c.169+4531_169+4537dup	ENSP00000490535.1:n.169+4531_169+4537dup
ENST00000638147.2:c.565+4531_565+4537dup	ENSP00000490953.2:n.565+4531_565+4537dup
ENST00000377453.7:c.913_919dup (CLN5)	ENSP00000366673.3:p.Arg307IlefsTer17
ENST00000477982.2:n.1645_1651dup (FBXL3)
ENST00000485797.2:n.174-7713_174-7707dup (FBXL3)
ENST00000616833.4:c.766_772dup (CLN5)	ENSP00000479547.1:p.Arg258IlefsTer17
NM_006493.2:c.913_919dup , LRG_692t1:c.913_919dup (CLN5)	NP_006484.1:p.Arg307IlefsTer17
XM_011534917.1:c.*215_*221dup (CLN5)	XP_011533219.1:n.*215_*221dup
NM_001366624.1:c.*215_*221dup (CLN5)	NP_001353553.1:n.*215_*221dup
NM_006493.3:c.766_772dup (CLN5)	NP_006484.2:p.Arg258IlefsTer17
XM_017020538.2:c.644-7713_644-7707dup (FBXL3)	XP_016876027.1:n.644-7713_644-7707dup
NM_001366624.2:c.*215_*221dup (CLN5)	NP_001353553.1:n.*215_*221dup
NM_006493.4:c.766_772dup (CLN5) MANE Select	NP_006484.2:p.Arg258IlefsTer17