Canonical Allele Identifier: CA2580089899

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2033894
• ClinVar RCV Id: RCV002872720

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209756del , CM000677.2:g.68209756del	GRCh38
NC_000015.9:g.68502094del , CM000677.1:g.68502094del	GRCh37
NC_000015.8:g.66289148del	NCBI36
NG_008764.2:g.52456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.546del MANE Select	ENSP00000249806.5:p.Tyr182Ter
ENST00000562767.2:c.84-12128del	ENSP00000456336.1:n.84-12128del
ENST00000563917.2:n.388del
ENST00000565471.6:c.87del	ENSP00000457384.1:p.Tyr29Ter
ENST00000635747.1:c.*449del	ENSP00000490627.1:n.*449del
ENST00000636212.1:c.*216del	ENSP00000489851.1:n.*216del
ENST00000636314.1:c.242del	ENSP00000490295.1:p.Thr81AsnfsTer19
ENST00000636674.1:n.1648del
ENST00000636964.1:n.2074del
ENST00000637054.1:c.198+8780del	ENSP00000490807.1:n.198+8780del
ENST00000637223.1:c.*260del	ENSP00000490010.1:n.*260del
ENST00000637329.1:c.515del
ENST00000637450.1:c.*200del	ENSP00000490204.1:n.*200del
ENST00000637494.1:c.258del	ENSP00000490057.1:p.Tyr86Ter
ENST00000637667.1:c.447del	ENSP00000489843.1:p.Tyr149Ter
ENST00000637823.1:c.371del
ENST00000637888.1:c.198+8780del	ENSP00000490546.1:n.198+8780del
ENST00000638076.1:c.*149del	ENSP00000490373.1:n.*149del
ENST00000638144.1:n.189del
ENST00000646164.1:c.38+8780del
ENST00000249806.9:c.546del	ENSP00000249806.5:p.Tyr182Ter
ENST00000538696.5:c.642del	ENSP00000445770.1:p.Tyr214Ter
ENST00000562767.1:c.84-12128del	ENSP00000456336.1:n.84-12128del
ENST00000563917.1:n.446del
ENST00000564752.1:c.572del	ENSP00000457822.1:p.Thr191AsnfsTer19
ENST00000565471.5:c.87del	ENSP00000457384.1:p.Tyr29Ter
ENST00000566347.5:c.357del	ENSP00000457783.1:p.Tyr119Ter
ENST00000567060.5:c.298-36del	ENSP00000454818.1:n.298-36del
NM_017882.2:c.546del	NP_060352.1:p.Tyr182Ter
XR_931861.1:n.768del
NM_017882.3:c.546del MANE Select	NP_060352.1:p.Tyr182Ter