Canonical Allele Identifier: CA2739277686

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 2825254
• ClinVar RCV Id: RCV003648291

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000635_77000636dup , CM000675.2:g.77000635_77000636dup	GRCh38
NC_000013.10:g.77574770_77574771dup , CM000675.1:g.77574770_77574771dup	GRCh37
NC_000013.9:g.76472771_76472772dup	NCBI36
NG_009064.1:g.13712_13713dup , LRG_692:g.13712_13713dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.743_744dup (CLN5) MANE Select	ENSP00000366673.5:p.Phe249SerfsTer5
ENST00000616833.6:c.*185_*186dup (CLN5)	ENSP00000479547.3:n.*185_*186dup
ENST00000635838.1:c.174+4508_174+4509dup
ENST00000635905.1:n.566+4508_566+4509dup (CLN5)
ENST00000635915.1:c.741_742dup (CLN5)
ENST00000636183.2:c.743_744dup (CLN5)	ENSP00000490181.2:p.Phe249SerfsTer5
ENST00000636525.2:c.565+4508_565+4509dup (CLN5)	ENSP00000490078.2:n.565+4508_565+4509dup
ENST00000636681.1:c.*434_*435dup (CLN5)	ENSP00000489922.1:n.*434_*435dup
ENST00000636705.1:c.579_580dup (CLN5)
ENST00000636767.2:c.565+4508_565+4509dup (CLN5)	ENSP00000489855.2:n.565+4508_565+4509dup
ENST00000636780.2:c.*192_*193dup (CLN5)	ENSP00000489809.2:n.*192_*193dup
ENST00000637192.1:c.213+4508_213+4509dup
ENST00000637278.1:n.1069_1070dup (CLN5)
ENST00000637397.2:c.565+4508_565+4509dup (CLN5)	ENSP00000490422.2:n.565+4508_565+4509dup
ENST00000638101.1:c.169+4508_169+4509dup	ENSP00000490535.1:n.169+4508_169+4509dup
ENST00000638147.2:c.565+4508_565+4509dup	ENSP00000490953.2:n.565+4508_565+4509dup
ENST00000377453.7:c.890_891dup (CLN5)	ENSP00000366673.3:p.Phe298SerfsTer5
ENST00000477982.2:n.1675_1676dup (FBXL3)
ENST00000485797.2:n.174-7683_174-7682dup (FBXL3)
ENST00000616833.4:c.743_744dup (CLN5)	ENSP00000479547.1:p.Phe249SerfsTer5
NM_006493.2:c.890_891dup , LRG_692t1:c.890_891dup (CLN5)	NP_006484.1:p.Phe298SerfsTer5
XM_011534917.1:c.*192_*193dup (CLN5)	XP_011533219.1:n.*192_*193dup
NM_001366624.1:c.*192_*193dup (CLN5)	NP_001353553.1:n.*192_*193dup
NM_006493.3:c.743_744dup (CLN5)	NP_006484.2:p.Phe249SerfsTer5
XM_017020538.2:c.644-7683_644-7682dup (FBXL3)	XP_016876027.1:n.644-7683_644-7682dup
NM_001366624.2:c.*192_*193dup (CLN5)	NP_001353553.1:n.*192_*193dup
NM_006493.4:c.743_744dup (CLN5) MANE Select	NP_006484.2:p.Phe249SerfsTer5