Canonical Allele Identifier: CA912974901

Gene: CLN5 FBXL3

Linked Data

• MyVariant Identifiers: chr13:g.77574942_77574943del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000807_77000808del , CM000675.2:g.77000807_77000808del	GRCh38
NC_000013.10:g.77574942_77574943del , CM000675.1:g.77574942_77574943del	GRCh37
NC_000013.9:g.76472943_76472944del	NCBI36
NG_009064.1:g.13884_13885del , LRG_692:g.13884_13885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.915_916del (CLN5) MANE Select	ENSP00000366673.5:p.Leu306GlufsTer7
ENST00000616833.6:c.*357_*358del (CLN5)	ENSP00000479547.3:n.*357_*358del
ENST00000635838.1:c.174+4680_174+4681del
ENST00000635905.1:n.566+4680_566+4681del (CLN5)
ENST00000635915.1:c.913_914del (CLN5)
ENST00000636183.2:c.915_916del (CLN5)	ENSP00000490181.2:p.Leu306GlufsTer7
ENST00000636525.2:c.565+4680_565+4681del (CLN5)	ENSP00000490078.2:n.565+4680_565+4681del
ENST00000636681.1:c.*606_*607del (CLN5)	ENSP00000489922.1:n.*606_*607del
ENST00000636705.1:c.751_752del (CLN5)
ENST00000636767.2:c.565+4680_565+4681del (CLN5)	ENSP00000489855.2:n.565+4680_565+4681del
ENST00000636780.2:c.*364_*365del (CLN5)	ENSP00000489809.2:n.*364_*365del
ENST00000637192.1:c.213+4680_213+4681del
ENST00000637278.1:n.1241_1242del (CLN5)
ENST00000637397.2:c.565+4680_565+4681del (CLN5)	ENSP00000490422.2:n.565+4680_565+4681del
ENST00000638101.1:c.169+4680_169+4681del	ENSP00000490535.1:n.169+4680_169+4681del
ENST00000638147.2:c.565+4680_565+4681del	ENSP00000490953.2:n.565+4680_565+4681del
ENST00000377453.7:c.1062_1063del (CLN5)	ENSP00000366673.3:p.Leu355GlufsTer7
ENST00000477982.2:n.1502_1503del (FBXL3)
ENST00000485797.2:n.174-7856_174-7855del (FBXL3)
ENST00000616833.4:c.915_916del (CLN5)	ENSP00000479547.1:p.Leu306GlufsTer7
NM_006493.2:c.1062_1063del , LRG_692t1:c.1062_1063del (CLN5)	NP_006484.1:p.Leu355GlufsTer7
XM_011534917.1:c.*364_*365del (CLN5)	XP_011533219.1:n.*364_*365del
NM_001366624.1:c.*364_*365del (CLN5)	NP_001353553.1:n.*364_*365del
NM_006493.3:c.915_916del (CLN5)	NP_006484.2:p.Leu306GlufsTer7
XM_017020538.2:c.644-7856_644-7855del (FBXL3)	XP_016876027.1:n.644-7856_644-7855del
NM_001366624.2:c.*364_*365del (CLN5)	NP_001353553.1:n.*364_*365del
NM_006493.4:c.915_916del (CLN5) MANE Select	NP_006484.2:p.Leu306GlufsTer7