Canonical Allele Identifier: CA2573151117

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1451380
• ClinVar RCV Id: RCV002035287
• dbSNP Id: rs2141137200

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209648del , CM000677.2:g.68209648del	GRCh38
NC_000015.9:g.68501986del , CM000677.1:g.68501986del	GRCh37
NC_000015.8:g.66289040del	NCBI36
NG_008764.2:g.52565del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.655del MANE Select	ENSP00000249806.5:p.Leu219CysfsTer?
ENST00000562767.2:c.84-12019del	ENSP00000456336.1:n.84-12019del
ENST00000563917.2:n.497del
ENST00000565471.6:c.196del	ENSP00000457384.1:p.Leu66CysfsTer?
ENST00000635747.1:c.*558del	ENSP00000490627.1:n.*558del
ENST00000636212.1:c.*325del	ENSP00000489851.1:n.*325del
ENST00000636674.1:n.1757del
ENST00000636964.1:n.2183del
ENST00000637054.1:c.198+8889del	ENSP00000490807.1:n.198+8889del
ENST00000637329.1:c.624del
ENST00000637450.1:c.*309del	ENSP00000490204.1:n.*309del
ENST00000637494.1:c.367del	ENSP00000490057.1:p.Leu123CysfsTer?
ENST00000637667.1:c.556del	ENSP00000489843.1:p.Leu186CysfsTer?
ENST00000637823.1:c.480del
ENST00000637888.1:c.198+8889del	ENSP00000490546.1:n.198+8889del
ENST00000638076.1:c.*258del	ENSP00000490373.1:n.*258del
ENST00000638144.1:n.298del
ENST00000646164.1:c.38+8889del
ENST00000249806.9:c.655del	ENSP00000249806.5:p.Leu219CysfsTer?
ENST00000538696.5:c.751del	ENSP00000445770.1:p.Leu251CysfsTer?
ENST00000562767.1:c.84-12019del	ENSP00000456336.1:n.84-12019del
ENST00000563917.1:n.555del
ENST00000564752.1:c.*39del	ENSP00000457822.1:n.*39del
ENST00000565471.5:c.196del	ENSP00000457384.1:p.Leu66CysfsTer?
ENST00000566347.5:c.466del	ENSP00000457783.1:p.Leu156CysfsTer?
ENST00000567060.5:c.*53del	ENSP00000454818.1:n.*53del
NM_017882.2:c.655del	NP_060352.1:p.Leu219CysfsTer?
XR_931861.1:n.877del
NM_017882.3:c.655del MANE Select	NP_060352.1:p.Leu219CysfsTer?