Canonical Allele Identifier: CA2799793701

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000186_77000187insTTG , CM000675.2:g.77000186_77000187insTTG	GRCh38
NC_000013.10:g.77574321_77574322insTTG , CM000675.1:g.77574321_77574322insTTG	GRCh37
NC_000013.9:g.76472322_76472323insTTG	NCBI36
NG_009064.1:g.13263_13264insTTG , LRG_692:g.13263_13264insTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-272_566-271insTTG (CLN5) MANE Select	ENSP00000366673.5:n.566-272_566-271insTTG
ENST00000616833.6:c.*7+191_*7+192insTTG (CLN5)	ENSP00000479547.3:n.*7+191_*7+192insTTG
ENST00000635761.1:n.366-14_366-13insTTG (CLN5)
ENST00000635838.1:c.174+4059_174+4060insTTG
ENST00000635905.1:n.566+4059_566+4060insTTG (CLN5)
ENST00000635915.1:c.564-272_564-271insTTG (CLN5)
ENST00000636183.2:c.566-272_566-271insTTG (CLN5)	ENSP00000490181.2:n.566-272_566-271insTTG
ENST00000636525.2:c.565+4059_565+4060insTTG (CLN5)	ENSP00000490078.2:n.565+4059_565+4060insTTG
ENST00000636681.1:c.*257-272_*257-271insTTG (CLN5)	ENSP00000489922.1:n.*257-272_*257-271insTTG
ENST00000636705.1:c.402-272_402-271insTTG (CLN5)
ENST00000636767.2:c.565+4059_565+4060insTTG (CLN5)	ENSP00000489855.2:n.565+4059_565+4060insTTG
ENST00000636780.2:c.*15-272_*15-271insTTG (CLN5)	ENSP00000489809.2:n.*15-272_*15-271insTTG
ENST00000637192.1:c.213+4059_213+4060insTTG
ENST00000637278.1:n.892-272_892-271insTTG (CLN5)
ENST00000637397.2:c.565+4059_565+4060insTTG (CLN5)	ENSP00000490422.2:n.565+4059_565+4060insTTG
ENST00000638101.1:c.169+4059_169+4060insTTG	ENSP00000490535.1:n.169+4059_169+4060insTTG
ENST00000638147.2:c.565+4059_565+4060insTTG	ENSP00000490953.2:n.565+4059_565+4060insTTG
ENST00000377453.7:c.713-272_713-271insTTG (CLN5)	ENSP00000366673.3:n.713-272_713-271insTTG
ENST00000477982.2:n.2122_2123insCAA (FBXL3)
ENST00000485797.2:n.174-7236_174-7235insCAA (FBXL3)
ENST00000616833.4:c.566-272_566-271insTTG (CLN5)	ENSP00000479547.1:n.566-272_566-271insTTG
NM_006493.2:c.713-272_713-271insTTG , LRG_692t1:c.713-272_713-271insTTG (CLN5)	NP_006484.1:n.713-272_713-271insTTG
XM_011534917.1:c.*15-272_*15-271insTTG (CLN5)	XP_011533219.1:n.*15-272_*15-271insTTG
NM_001366624.1:c.*15-272_*15-271insTTG (CLN5)	NP_001353553.1:n.*15-272_*15-271insTTG
NM_006493.3:c.566-272_566-271insTTG (CLN5)	NP_006484.2:n.566-272_566-271insTTG
XM_017020538.2:c.644-7236_644-7235insCAA (FBXL3)	XP_016876027.1:n.644-7236_644-7235insCAA
NM_001366624.2:c.*15-272_*15-271insTTG (CLN5)	NP_001353553.1:n.*15-272_*15-271insTTG
NM_006493.4:c.566-272_566-271insTTG (CLN5) MANE Select	NP_006484.2:n.566-272_566-271insTTG