Canonical Allele Identifier: CA2529420907

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995947_76995948insCCACCG , CM000675.2:g.76995947_76995948insCCACCG	GRCh38
NC_000013.10:g.77570082_77570083insCCACCG , CM000675.1:g.77570082_77570083insCCACCG	GRCh37
NC_000013.9:g.76468083_76468084insCCACCG	NCBI36
NG_009064.1:g.9024_9025insCCACCG , LRG_692:g.9024_9025insCCACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.385_386insCCACCG (CLN5) MANE Select	ENSP00000366673.5:p.Lys129delinsThrThrGlu
ENST00000485938.4:c.385_386insCCACCG (CLN5)	ENSP00000482959.3:p.Lys129delinsThrThrGlu
ENST00000616833.6:c.385_386insCCACCG (CLN5)	ENSP00000479547.3:p.Lys129delinsThrThrGlu
ENST00000635905.1:n.386_387insCCACCG (CLN5)
ENST00000635915.1:c.383_384insCCACCG (CLN5)
ENST00000635989.1:n.452_453insCCACCG (CLN5)
ENST00000636183.2:c.385_386insCCACCG (CLN5)	ENSP00000490181.2:p.Lys129delinsThrThrGlu
ENST00000636520.1:n.1897_1898insCCACCG (CLN5)
ENST00000636525.2:c.385_386insCCACCG (CLN5)	ENSP00000490078.2:p.Lys129delinsThrThrGlu
ENST00000636602.1:n.331_332insCCACCG (CLN5)
ENST00000636681.1:c.*76_*77insCCACCG (CLN5)	ENSP00000489922.1:n.*76_*77insCCACCG
ENST00000636705.1:c.221_222insCCACCG (CLN5)
ENST00000636767.2:c.385_386insCCACCG (CLN5)	ENSP00000489855.2:p.Lys129delinsThrThrGlu
ENST00000636780.2:c.385_386insCCACCG (CLN5)	ENSP00000489809.2:p.Lys129delinsThrThrGlu
ENST00000637192.1:c.33_34insCCACCG
ENST00000637278.1:n.711_712insCCACCG (CLN5)
ENST00000637397.2:c.385_386insCCACCG (CLN5)	ENSP00000490422.2:p.Lys129delinsThrThrGlu
ENST00000637537.2:c.385_386insCCACCG (CLN5)	ENSP00000489711.2:p.Lys129delinsThrThrGlu
ENST00000638147.2:c.385_386insCCACCG	ENSP00000490953.2:p.Lys129delinsThrThrGlu
ENST00000377453.7:c.532_533insCCACCG (CLN5)	ENSP00000366673.3:p.Lys178delinsThrThrGlu
ENST00000485797.2:n.174-2997_174-2996insCGGTGG (FBXL3)
ENST00000485938.2:c.368_369insCCACCG (CLN5)
ENST00000616833.4:c.385_386insCCACCG (CLN5)	ENSP00000479547.1:p.Lys129delinsThrThrGlu
NM_006493.2:c.532_533insCCACCG , LRG_692t1:c.532_533insCCACCG (CLN5)	NP_006484.1:p.Lys178delinsThrThrGlu
XM_011534917.1:c.532_533insCCACCG (CLN5)	XP_011533219.1:p.Lys178delinsThrThrGlu
NM_001366624.1:c.385_386insCCACCG (CLN5)	NP_001353553.1:p.Lys129delinsThrThrGlu
NM_006493.3:c.385_386insCCACCG (CLN5)	NP_006484.2:p.Lys129delinsThrThrGlu
XM_017020538.2:c.644-2997_644-2996insCGGTGG (FBXL3)	XP_016876027.1:n.644-2997_644-2996insCGGTGG
NM_001366624.2:c.385_386insCCACCG (CLN5)	NP_001353553.1:p.Lys129delinsThrThrGlu
NM_006493.4:c.385_386insCCACCG (CLN5) MANE Select	NP_006484.2:p.Lys129delinsThrThrGlu