Canonical Allele Identifier: CA2103437488

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001260_77001261delinsAG , CM000675.2:g.77001260_77001261delinsAG	GRCh38
NC_000013.10:g.77575395_77575396delinsAG , CM000675.1:g.77575395_77575396delinsAG	GRCh37
NC_000013.9:g.76473396_76473397delinsAG	NCBI36
NG_009064.1:g.14337_14338delinsAG , LRG_692:g.14337_14338delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*291_*292delinsAG (CLN5) MANE Select	ENSP00000366673.5:n.*291_*292delinsAG
ENST00000616833.6:c.*810_*811delinsAG (CLN5)	ENSP00000479547.3:n.*810_*811delinsAG
ENST00000635838.1:c.174+5133_174+5134delinsAG
ENST00000635905.1:n.566+5133_566+5134delinsAG (CLN5)
ENST00000635915.1:c.1366_1367delinsAG (CLN5)
ENST00000636183.2:c.*291_*292delinsAG (CLN5)	ENSP00000490181.2:n.*291_*292delinsAG
ENST00000636525.2:c.565+5133_565+5134delinsAG (CLN5)	ENSP00000490078.2:n.565+5133_565+5134delinsAG
ENST00000636681.1:c.*1059_*1060delinsAG (CLN5)	ENSP00000489922.1:n.*1059_*1060delinsAG
ENST00000636705.1:c.1204_1205delinsAG (CLN5)
ENST00000636767.2:c.565+5133_565+5134delinsAG (CLN5)	ENSP00000489855.2:n.565+5133_565+5134delinsAG
ENST00000636780.2:c.*817_*818delinsAG (CLN5)	ENSP00000489809.2:n.*817_*818delinsAG
ENST00000637192.1:c.213+5133_213+5134delinsAG
ENST00000637278.1:n.1694_1695delinsAG (CLN5)
ENST00000637397.2:c.565+5133_565+5134delinsAG (CLN5)	ENSP00000490422.2:n.565+5133_565+5134delinsAG
ENST00000638101.1:c.169+5133_169+5134delinsAG	ENSP00000490535.1:n.169+5133_169+5134delinsAG
ENST00000638147.2:c.565+5133_565+5134delinsAG	ENSP00000490953.2:n.565+5133_565+5134delinsAG
ENST00000377453.7:c.*291_*292delinsAG (CLN5)	ENSP00000366673.3:n.*291_*292delinsAG
ENST00000477982.2:n.1048_1049delinsCT (FBXL3)
ENST00000485797.2:n.174-8310_174-8309delinsCT (FBXL3)
ENST00000616833.4:c.*291_*292delinsAG (CLN5)	ENSP00000479547.1:n.*291_*292delinsAG
NM_006493.2:c.*291_*292delinsAG , LRG_692t1:c.*291_*292delinsAG (CLN5)	NP_006484.1:n.*291_*292delinsAG
NM_001366624.1:c.*817_*818delinsAG (CLN5)	NP_001353553.1:n.*817_*818delinsAG
NM_006493.3:c.*291_*292delinsAG (CLN5)	NP_006484.2:n.*291_*292delinsAG
XM_017020538.2:c.644-8310_644-8309delinsCT (FBXL3)	XP_016876027.1:n.644-8310_644-8309delinsCT
NM_001366624.2:c.*817_*818delinsAG (CLN5)	NP_001353553.1:n.*817_*818delinsAG
NM_006493.4:c.*291_*292delinsAG (CLN5) MANE Select	NP_006484.2:n.*291_*292delinsAG