Canonical Allele Identifier: CA912974900

Gene: CLN5 FBXL3

Linked Data

• MyVariant Identifiers: chr13:g.77574930_77574931del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000795_77000796del , CM000675.2:g.77000795_77000796del	GRCh38
NC_000013.10:g.77574930_77574931del , CM000675.1:g.77574930_77574931del	GRCh37
NC_000013.9:g.76472931_76472932del	NCBI36
NG_009064.1:g.13872_13873del , LRG_692:g.13872_13873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.903_904del (CLN5) MANE Select	ENSP00000366673.5:p.Lys302ArgfsTer11
ENST00000616833.6:c.*345_*346del (CLN5)	ENSP00000479547.3:n.*345_*346del
ENST00000635838.1:c.174+4668_174+4669del
ENST00000635905.1:n.566+4668_566+4669del (CLN5)
ENST00000635915.1:c.901_902del (CLN5)
ENST00000636183.2:c.903_904del (CLN5)	ENSP00000490181.2:p.Lys302ArgfsTer11
ENST00000636525.2:c.565+4668_565+4669del (CLN5)	ENSP00000490078.2:n.565+4668_565+4669del
ENST00000636681.1:c.*594_*595del (CLN5)	ENSP00000489922.1:n.*594_*595del
ENST00000636705.1:c.739_740del (CLN5)
ENST00000636767.2:c.565+4668_565+4669del (CLN5)	ENSP00000489855.2:n.565+4668_565+4669del
ENST00000636780.2:c.*352_*353del (CLN5)	ENSP00000489809.2:n.*352_*353del
ENST00000637192.1:c.213+4668_213+4669del
ENST00000637278.1:n.1229_1230del (CLN5)
ENST00000637397.2:c.565+4668_565+4669del (CLN5)	ENSP00000490422.2:n.565+4668_565+4669del
ENST00000638101.1:c.169+4668_169+4669del	ENSP00000490535.1:n.169+4668_169+4669del
ENST00000638147.2:c.565+4668_565+4669del	ENSP00000490953.2:n.565+4668_565+4669del
ENST00000377453.7:c.1050_1051del (CLN5)	ENSP00000366673.3:p.Lys351ArgfsTer11
ENST00000477982.2:n.1513_1514del (FBXL3)
ENST00000485797.2:n.174-7845_174-7844del (FBXL3)
ENST00000616833.4:c.903_904del (CLN5)	ENSP00000479547.1:p.Lys302ArgfsTer11
NM_006493.2:c.1050_1051del , LRG_692t1:c.1050_1051del (CLN5)	NP_006484.1:p.Lys351ArgfsTer11
XM_011534917.1:c.*352_*353del (CLN5)	XP_011533219.1:n.*352_*353del
NM_001366624.1:c.*352_*353del (CLN5)	NP_001353553.1:n.*352_*353del
NM_006493.3:c.903_904del (CLN5)	NP_006484.2:p.Lys302ArgfsTer11
XM_017020538.2:c.644-7845_644-7844del (FBXL3)	XP_016876027.1:n.644-7845_644-7844del
NM_001366624.2:c.*352_*353del (CLN5)	NP_001353553.1:n.*352_*353del
NM_006493.4:c.903_904del (CLN5) MANE Select	NP_006484.2:p.Lys302ArgfsTer11