Canonical Allele Identifier: CA2629164951

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211622-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211622A>G , CM000677.2:g.68211622A>G	GRCh38
NC_000015.9:g.68503960A>G , CM000677.1:g.68503960A>G	GRCh37
NC_000015.8:g.66291014A>G	NCBI36
NG_008764.2:g.50590T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+53T>C MANE Select	ENSP00000249806.5:n.486+53T>C
ENST00000562767.2:c.84-13994T>C	ENSP00000456336.1:n.84-13994T>C
ENST00000563917.2:n.328+53T>C
ENST00000565471.6:c.84-1863T>C	ENSP00000457384.1:n.84-1863T>C
ENST00000635747.1:c.*389+53T>C	ENSP00000490627.1:n.*389+53T>C
ENST00000636212.1:c.*90T>C	ENSP00000489851.1:n.*90T>C
ENST00000636314.1:c.183-304T>C	ENSP00000490295.1:n.183-304T>C
ENST00000636674.1:n.1522T>C
ENST00000636964.1:n.1711T>C
ENST00000637054.1:c.198+6914T>C	ENSP00000490807.1:n.198+6914T>C
ENST00000637223.1:c.*201-304T>C	ENSP00000490010.1:n.*201-304T>C
ENST00000637329.1:c.455+53T>C
ENST00000637450.1:c.*140+53T>C	ENSP00000490204.1:n.*140+53T>C
ENST00000637494.1:c.199-304T>C	ENSP00000490057.1:n.199-304T>C
ENST00000637667.1:c.387+53T>C	ENSP00000489843.1:n.387+53T>C
ENST00000637823.1:c.245T>C
ENST00000637888.1:c.198+6914T>C	ENSP00000490546.1:n.198+6914T>C
ENST00000638076.1:c.*23T>C	ENSP00000490373.1:n.*23T>C
ENST00000638144.1:n.130-304T>C
ENST00000646164.1:c.38+6914T>C
ENST00000249806.9:c.486+53T>C	ENSP00000249806.5:n.486+53T>C
ENST00000538696.5:c.582+53T>C	ENSP00000445770.1:n.582+53T>C
ENST00000562767.1:c.84-13994T>C	ENSP00000456336.1:n.84-13994T>C
ENST00000563917.1:n.320T>C
ENST00000564752.1:c.512+27T>C	ENSP00000457822.1:n.512+27T>C
ENST00000565471.5:c.84-1863T>C	ENSP00000457384.1:n.84-1863T>C
ENST00000566347.5:c.298-304T>C	ENSP00000457783.1:n.298-304T>C
ENST00000567060.5:c.298-1902T>C	ENSP00000454818.1:n.298-1902T>C
NM_017882.2:c.486+53T>C	NP_060352.1:n.486+53T>C
XR_931861.1:n.642T>C
NM_017882.3:c.486+53T>C MANE Select	NP_060352.1:n.486+53T>C