Canonical Allele Identifier: CA2499223064

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1162044
• ClinVar RCV Id: RCV001506812
• dbSNP Id: rs2141139490

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211871T>A , CM000677.2:g.68211871T>A	GRCh38
NC_000015.9:g.68504209T>A , CM000677.1:g.68504209T>A	GRCh37
NC_000015.8:g.66291263T>A	NCBI36
NG_008764.2:g.50341A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-8A>T MANE Select	ENSP00000249806.5:n.298-8A>T
ENST00000562767.2:c.84-14243A>T	ENSP00000456336.1:n.84-14243A>T
ENST00000563917.2:n.140-8A>T
ENST00000565471.6:c.84-2112A>T	ENSP00000457384.1:n.84-2112A>T
ENST00000635747.1:c.*201-8A>T	ENSP00000490627.1:n.*201-8A>T
ENST00000636212.1:c.298-130A>T	ENSP00000489851.1:n.298-130A>T
ENST00000636314.1:c.183-553A>T	ENSP00000490295.1:n.183-553A>T
ENST00000636674.1:n.1273A>T
ENST00000636964.1:n.1462A>T
ENST00000637054.1:c.198+6665A>T	ENSP00000490807.1:n.198+6665A>T
ENST00000637223.1:c.*201-553A>T	ENSP00000490010.1:n.*201-553A>T
ENST00000637329.1:c.259A>T
ENST00000637450.1:c.183-8A>T	ENSP00000490204.1:n.183-8A>T
ENST00000637494.1:c.199-553A>T	ENSP00000490057.1:n.199-553A>T
ENST00000637667.1:c.199-8A>T	ENSP00000489843.1:n.199-8A>T
ENST00000637823.1:c.224-228A>T
ENST00000637888.1:c.198+6665A>T	ENSP00000490546.1:n.198+6665A>T
ENST00000638076.1:c.298-8A>T	ENSP00000490373.1:n.298-8A>T
ENST00000638144.1:n.130-553A>T
ENST00000646164.1:c.38+6665A>T
ENST00000249806.9:c.298-8A>T	ENSP00000249806.5:n.298-8A>T
ENST00000538696.5:c.394-8A>T	ENSP00000445770.1:n.394-8A>T
ENST00000562767.1:c.84-14243A>T	ENSP00000456336.1:n.84-14243A>T
ENST00000563917.1:n.79-8A>T
ENST00000564752.1:c.298-8A>T	ENSP00000457822.1:n.298-8A>T
ENST00000565471.5:c.84-2112A>T	ENSP00000457384.1:n.84-2112A>T
ENST00000566347.5:c.298-553A>T	ENSP00000457783.1:n.298-553A>T
ENST00000567060.5:c.298-2151A>T	ENSP00000454818.1:n.298-2151A>T
NM_017882.2:c.298-8A>T	NP_060352.1:n.298-8A>T
XR_931861.1:n.401-8A>T
NM_017882.3:c.298-8A>T MANE Select	NP_060352.1:n.298-8A>T