Canonical Allele Identifier: CA658823724

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 553559
• ClinVar RCV Id: RCV000669036
• dbSNP Id: rs1555274012
• MyVariant Identifiers: chr13:g.76996115_76996123del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996115_76996123del , CM000675.2:g.76996115_76996123del	GRCh38
NC_000013.10:g.77570250_77570258del , CM000675.1:g.77570250_77570258del	GRCh37
NC_000013.9:g.76468251_76468259del	NCBI36
NG_009064.1:g.9192_9200del , LRG_692:g.9192_9200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.553_561del (CLN5) MANE Select	ENSP00000366673.5:p.Ala185_Ile187del
ENST00000485938.4:c.553_561del (CLN5)	ENSP00000482959.3:p.Ala185_Ile187del
ENST00000616833.6:c.553_561del (CLN5)	ENSP00000479547.3:p.Ala185_Ile187del
ENST00000635838.1:c.162_170del
ENST00000635905.1:n.554_562del (CLN5)
ENST00000635915.1:c.551_559del (CLN5)
ENST00000636183.2:c.553_561del (CLN5)	ENSP00000490181.2:p.Ala185_Ile187del
ENST00000636520.1:n.2065_2073del (CLN5)
ENST00000636525.2:c.553_561del (CLN5)	ENSP00000490078.2:p.Ala185_Ile187del
ENST00000636602.1:n.499_507del (CLN5)
ENST00000636681.1:c.*244_*252del (CLN5)	ENSP00000489922.1:n.*244_*252del
ENST00000636705.1:c.389_397del (CLN5)
ENST00000636767.2:c.553_561del (CLN5)	ENSP00000489855.2:p.Ala185_Ile187del
ENST00000636780.2:c.553_561del (CLN5)	ENSP00000489809.2:p.Ala185_Ile187del
ENST00000637192.1:c.201_209del
ENST00000637278.1:n.879_887del (CLN5)
ENST00000637397.2:c.553_561del (CLN5)	ENSP00000490422.2:p.Ala185_Ile187del
ENST00000637537.2:c.553_561del (CLN5)	ENSP00000489711.2:p.Ala185_Ile187del
ENST00000638101.1:c.157_165del	ENSP00000490535.1:p.Ala53_Ile55del
ENST00000638147.2:c.553_561del	ENSP00000490953.2:p.Ala185_Ile187del
ENST00000377453.7:c.700_708del (CLN5)	ENSP00000366673.3:p.Ala234_Ile236del
ENST00000485797.2:n.174-3170_174-3162del (FBXL3)
ENST00000485938.2:c.536_544del (CLN5)
ENST00000616833.4:c.553_561del (CLN5)	ENSP00000479547.1:p.Ala185_Ile187del
NM_006493.2:c.700_708del , LRG_692t1:c.700_708del (CLN5)	NP_006484.1:p.Ala234_Ile236del
XM_011534917.1:c.700_708del (CLN5)	XP_011533219.1:p.Ala234_Ile236del
NM_001366624.1:c.553_561del (CLN5)	NP_001353553.1:p.Ala185_Ile187del
NM_006493.3:c.553_561del (CLN5)	NP_006484.2:p.Ala185_Ile187del
XM_017020538.2:c.644-3170_644-3162del (FBXL3)	XP_016876027.1:n.644-3170_644-3162del
NM_001366624.2:c.553_561del (CLN5)	NP_001353553.1:p.Ala185_Ile187del
NM_006493.4:c.553_561del (CLN5) MANE Select	NP_006484.2:p.Ala185_Ile187del