Canonical Allele Identifier: CA2103436338

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000823_77000824delinsAT , CM000675.2:g.77000823_77000824delinsAT	GRCh38
NC_000013.10:g.77574958_77574959delinsAT , CM000675.1:g.77574958_77574959delinsAT	GRCh37
NC_000013.9:g.76472959_76472960delinsAT	NCBI36
NG_009064.1:g.13900_13901delinsAT , LRG_692:g.13900_13901delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.931_932delinsAT (CLN5) MANE Select	ENSP00000366673.5:p.Ile311=
ENST00000616833.6:c.*373_*374delinsAT (CLN5)	ENSP00000479547.3:n.*373_*374delinsAT
ENST00000635838.1:c.174+4696_174+4697delinsAT
ENST00000635905.1:n.566+4696_566+4697delinsAT (CLN5)
ENST00000635915.1:c.929_930delinsAT (CLN5)
ENST00000636183.2:c.931_932delinsAT (CLN5)	ENSP00000490181.2:p.Ile311=
ENST00000636525.2:c.565+4696_565+4697delinsAT (CLN5)	ENSP00000490078.2:n.565+4696_565+4697deli...
ENST00000636681.1:c.*622_*623delinsAT (CLN5)	ENSP00000489922.1:n.*622_*623delinsAT
ENST00000636705.1:c.767_768delinsAT (CLN5)
ENST00000636767.2:c.565+4696_565+4697delinsAT (CLN5)	ENSP00000489855.2:n.565+4696_565+4697deli...
ENST00000636780.2:c.*380_*381delinsAT (CLN5)	ENSP00000489809.2:n.*380_*381delinsAT
ENST00000637192.1:c.213+4696_213+4697delinsAT
ENST00000637278.1:n.1257_1258delinsAT (CLN5)
ENST00000637397.2:c.565+4696_565+4697delinsAT (CLN5)	ENSP00000490422.2:n.565+4696_565+4697deli...
ENST00000638101.1:c.169+4696_169+4697delinsAT	ENSP00000490535.1:n.169+4696_169+4697deli...
ENST00000638147.2:c.565+4696_565+4697delinsAT	ENSP00000490953.2:n.565+4696_565+4697deli...
ENST00000377453.7:c.1078_1079delinsAT (CLN5)	ENSP00000366673.3:p.Ile360=
ENST00000477982.2:n.1485_1486delinsAT (FBXL3)
ENST00000485797.2:n.174-7873_174-7872delinsAT (FBXL3)
ENST00000616833.4:c.931_932delinsAT (CLN5)	ENSP00000479547.1:p.Ile311=
NM_006493.2:c.1078_1079delinsAT , LRG_692t1:c.1078_1079delinsAT (CLN5)	NP_006484.1:p.Ile360=
NM_001366624.1:c.*380_*381delinsAT (CLN5)	NP_001353553.1:n.*380_*381delinsAT
NM_006493.3:c.931_932delinsAT (CLN5)	NP_006484.2:p.Ile311=
XM_017020538.2:c.644-7873_644-7872delinsAT (FBXL3)	XP_016876027.1:n.644-7873_644-7872delinsA...
NM_001366624.2:c.*380_*381delinsAT (CLN5)	NP_001353553.1:n.*380_*381delinsAT
NM_006493.4:c.931_932delinsAT (CLN5) MANE Select	NP_006484.2:p.Ile311=