Canonical Allele Identifier: CA957800330

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs2034333505
• gnomAD v3: 13-77000181-A-AAG
• gnomAD v4: 13-77000181-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000183_77000184dup , CM000675.2:g.77000183_77000184dup	GRCh38
NC_000013.10:g.77574318_77574319dup , CM000675.1:g.77574318_77574319dup	GRCh37
NC_000013.9:g.76472319_76472320dup	NCBI36
NG_009064.1:g.13260_13261dup , LRG_692:g.13260_13261dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-275_566-274dup (CLN5) MANE Select	ENSP00000366673.5:n.566-275_566-274dup
ENST00000616833.6:c.*7+188_*7+189dup (CLN5)	ENSP00000479547.3:n.*7+188_*7+189dup
ENST00000635761.1:n.366-17_366-16dup (CLN5)
ENST00000635838.1:c.174+4056_174+4057dup
ENST00000635905.1:n.566+4056_566+4057dup (CLN5)
ENST00000635915.1:c.564-275_564-274dup (CLN5)
ENST00000636183.2:c.566-275_566-274dup (CLN5)	ENSP00000490181.2:n.566-275_566-274dup
ENST00000636525.2:c.565+4056_565+4057dup (CLN5)	ENSP00000490078.2:n.565+4056_565+4057dup
ENST00000636681.1:c.*257-275_*257-274dup (CLN5)	ENSP00000489922.1:n.*257-275_*257-274dup
ENST00000636705.1:c.402-275_402-274dup (CLN5)
ENST00000636767.2:c.565+4056_565+4057dup (CLN5)	ENSP00000489855.2:n.565+4056_565+4057dup
ENST00000636780.2:c.*15-275_*15-274dup (CLN5)	ENSP00000489809.2:n.*15-275_*15-274dup
ENST00000637192.1:c.213+4056_213+4057dup
ENST00000637278.1:n.892-275_892-274dup (CLN5)
ENST00000637397.2:c.565+4056_565+4057dup (CLN5)	ENSP00000490422.2:n.565+4056_565+4057dup
ENST00000638101.1:c.169+4056_169+4057dup	ENSP00000490535.1:n.169+4056_169+4057dup
ENST00000638147.2:c.565+4056_565+4057dup	ENSP00000490953.2:n.565+4056_565+4057dup
ENST00000377453.7:c.713-275_713-274dup (CLN5)	ENSP00000366673.3:n.713-275_713-274dup
ENST00000477982.2:n.2126_2127dup (FBXL3)
ENST00000485797.2:n.174-7232_174-7231dup (FBXL3)
ENST00000616833.4:c.566-275_566-274dup (CLN5)	ENSP00000479547.1:n.566-275_566-274dup
NM_006493.2:c.713-275_713-274dup , LRG_692t1:c.713-275_713-274dup (CLN5)	NP_006484.1:n.713-275_713-274dup
XM_011534917.1:c.*15-275_*15-274dup (CLN5)	XP_011533219.1:n.*15-275_*15-274dup
NM_001366624.1:c.*15-275_*15-274dup (CLN5)	NP_001353553.1:n.*15-275_*15-274dup
NM_006493.3:c.566-275_566-274dup (CLN5)	NP_006484.2:n.566-275_566-274dup
XM_017020538.2:c.644-7232_644-7231dup (FBXL3)	XP_016876027.1:n.644-7232_644-7231dup
NM_001366624.2:c.*15-275_*15-274dup (CLN5)	NP_001353553.1:n.*15-275_*15-274dup
NM_006493.4:c.566-275_566-274dup (CLN5) MANE Select	NP_006484.2:n.566-275_566-274dup