Canonical Allele Identifier: CA2580089904

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1726067
• ClinVar RCV Id: RCV002307038

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211841del , CM000677.2:g.68211841del	GRCh38
NC_000015.9:g.68504179del , CM000677.1:g.68504179del	GRCh37
NC_000015.8:g.66291233del	NCBI36
NG_008764.2:g.50373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.322del MANE Select	ENSP00000249806.5:p.Leu108CysfsTer8
ENST00000562767.2:c.84-14211del	ENSP00000456336.1:n.84-14211del
ENST00000563917.2:n.164del
ENST00000565471.6:c.84-2080del	ENSP00000457384.1:n.84-2080del
ENST00000635747.1:c.*225del	ENSP00000490627.1:n.*225del
ENST00000636212.1:c.298-98del	ENSP00000489851.1:n.298-98del
ENST00000636314.1:c.183-521del	ENSP00000490295.1:n.183-521del
ENST00000636674.1:n.1305del
ENST00000636964.1:n.1494del
ENST00000637054.1:c.198+6697del	ENSP00000490807.1:n.198+6697del
ENST00000637223.1:c.*201-521del	ENSP00000490010.1:n.*201-521del
ENST00000637329.1:c.291del
ENST00000637450.1:c.207del	ENSP00000490204.1:p.Cys70AlafsTer23
ENST00000637494.1:c.199-521del	ENSP00000490057.1:n.199-521del
ENST00000637667.1:c.223del	ENSP00000489843.1:p.Leu75CysfsTer8
ENST00000637823.1:c.224-196del
ENST00000637888.1:c.198+6697del	ENSP00000490546.1:n.198+6697del
ENST00000638076.1:c.322del	ENSP00000490373.1:p.Leu108CysfsTer8
ENST00000638144.1:n.130-521del
ENST00000646164.1:c.38+6697del
ENST00000249806.9:c.322del	ENSP00000249806.5:p.Leu108CysfsTer8
ENST00000538696.5:c.418del	ENSP00000445770.1:p.Leu140CysfsTer8
ENST00000562767.1:c.84-14211del	ENSP00000456336.1:n.84-14211del
ENST00000563917.1:n.103del
ENST00000564752.1:c.322del	ENSP00000457822.1:p.Leu108CysfsTer8
ENST00000565471.5:c.84-2080del	ENSP00000457384.1:n.84-2080del
ENST00000566347.5:c.298-521del	ENSP00000457783.1:n.298-521del
ENST00000567060.5:c.298-2119del	ENSP00000454818.1:n.298-2119del
NM_017882.2:c.322del	NP_060352.1:p.Leu108CysfsTer8
XR_931861.1:n.425del
NM_017882.3:c.322del MANE Select	NP_060352.1:p.Leu108CysfsTer8