Canonical Allele Identifier: CA957800509

Gene: CLN5 FBXL3

Linked Data

• gnomAD v3: 13-77000383-T-TAAAAAAAA
• gnomAD v4: 13-77000383-T-TAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000396_77000403dup , CM000675.2:g.77000396_77000403dup	GRCh38
NC_000013.10:g.77574531_77574538dup , CM000675.1:g.77574531_77574538dup	GRCh37
NC_000013.9:g.76472532_76472539dup	NCBI36
NG_009064.1:g.13473_13480dup , LRG_692:g.13473_13480dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-62_566-55dup (CLN5) MANE Select	ENSP00000366673.5:n.566-62_566-55dup
ENST00000616833.6:c.*8-62_*8-55dup (CLN5)	ENSP00000479547.3:n.*8-62_*8-55dup
ENST00000635838.1:c.174+4269_174+4276dup
ENST00000635905.1:n.566+4269_566+4276dup (CLN5)
ENST00000635915.1:c.564-62_564-55dup (CLN5)
ENST00000636183.2:c.566-62_566-55dup (CLN5)	ENSP00000490181.2:n.566-62_566-55dup
ENST00000636525.2:c.565+4269_565+4276dup (CLN5)	ENSP00000490078.2:n.565+4269_565+4276dup
ENST00000636681.1:c.*257-62_*257-55dup (CLN5)	ENSP00000489922.1:n.*257-62_*257-55dup
ENST00000636705.1:c.402-62_402-55dup (CLN5)
ENST00000636767.2:c.565+4269_565+4276dup (CLN5)	ENSP00000489855.2:n.565+4269_565+4276dup
ENST00000636780.2:c.*15-62_*15-55dup (CLN5)	ENSP00000489809.2:n.*15-62_*15-55dup
ENST00000637192.1:c.213+4269_213+4276dup
ENST00000637278.1:n.892-62_892-55dup (CLN5)
ENST00000637397.2:c.565+4269_565+4276dup (CLN5)	ENSP00000490422.2:n.565+4269_565+4276dup
ENST00000638101.1:c.169+4269_169+4276dup	ENSP00000490535.1:n.169+4269_169+4276dup
ENST00000638147.2:c.565+4269_565+4276dup	ENSP00000490953.2:n.565+4269_565+4276dup
ENST00000377453.7:c.713-62_713-55dup (CLN5)	ENSP00000366673.3:n.713-62_713-55dup
ENST00000477982.2:n.1918_1925dup (FBXL3)
ENST00000485797.2:n.174-7440_174-7433dup (FBXL3)
ENST00000616833.4:c.566-62_566-55dup (CLN5)	ENSP00000479547.1:n.566-62_566-55dup
NM_006493.2:c.713-62_713-55dup , LRG_692t1:c.713-62_713-55dup (CLN5)	NP_006484.1:n.713-62_713-55dup
XM_011534917.1:c.*15-62_*15-55dup (CLN5)	XP_011533219.1:n.*15-62_*15-55dup
NM_001366624.1:c.*15-62_*15-55dup (CLN5)	NP_001353553.1:n.*15-62_*15-55dup
NM_006493.3:c.566-62_566-55dup (CLN5)	NP_006484.2:n.566-62_566-55dup
XM_017020538.2:c.644-7440_644-7433dup (FBXL3)	XP_016876027.1:n.644-7440_644-7433dup
NM_001366624.2:c.*15-62_*15-55dup (CLN5)	NP_001353553.1:n.*15-62_*15-55dup
NM_006493.4:c.566-62_566-55dup (CLN5) MANE Select	NP_006484.2:n.566-62_566-55dup