Canonical Allele Identifier: CA2843137401

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218655G>T , CM000677.2:g.68218655G>T	GRCh38
NC_000015.9:g.68510993G>T , CM000677.1:g.68510993G>T	GRCh37
NC_000015.8:g.66298047G>T	NCBI36
NG_008764.2:g.43557C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.84-5C>A MANE Select	ENSP00000249806.5:n.84-5C>A
ENST00000562767.2:c.83+10847C>A	ENSP00000456336.1:n.83+10847C>A
ENST00000563917.2:n.41-4267C>A
ENST00000565471.6:c.84-8896C>A	ENSP00000457384.1:n.84-8896C>A
ENST00000635747.1:c.173-5C>A	ENSP00000490627.1:n.173-5C>A
ENST00000636020.1:n.216-5C>A
ENST00000636212.1:c.84-5C>A	ENSP00000489851.1:n.84-5C>A
ENST00000636314.1:c.84-4267C>A	ENSP00000490295.1:n.84-4267C>A
ENST00000636876.1:c.*104-5C>A	ENSP00000489950.1:n.*104-5C>A
ENST00000637054.1:c.84-5C>A	ENSP00000490807.1:n.84-5C>A
ENST00000637223.1:c.173-5C>A	ENSP00000490010.1:n.173-5C>A
ENST00000637450.1:c.84-4267C>A	ENSP00000490204.1:n.84-4267C>A
ENST00000637494.1:c.84-5C>A	ENSP00000490057.1:n.84-5C>A
ENST00000637667.1:c.84-5C>A	ENSP00000489843.1:n.84-5C>A
ENST00000637823.1:c.10-5C>A
ENST00000637888.1:c.84-5C>A	ENSP00000490546.1:n.84-5C>A
ENST00000638076.1:c.84-5C>A	ENSP00000490373.1:n.84-5C>A
ENST00000638144.1:n.31-4267C>A
ENST00000249806.9:c.84-5C>A	ENSP00000249806.5:n.84-5C>A
ENST00000538696.5:c.180-5C>A	ENSP00000445770.1:n.180-5C>A
ENST00000562767.1:c.83+10847C>A	ENSP00000456336.1:n.83+10847C>A
ENST00000564752.1:c.84-5C>A	ENSP00000457822.1:n.84-5C>A
ENST00000564846.1:n.516-5C>A
ENST00000565471.5:c.84-8896C>A	ENSP00000457384.1:n.84-8896C>A
ENST00000566347.5:c.84-5C>A	ENSP00000457783.1:n.84-5C>A
ENST00000567060.5:c.84-5C>A	ENSP00000454818.1:n.84-5C>A
ENST00000569336.1:n.170-5C>A
NM_017882.2:c.84-5C>A	NP_060352.1:n.84-5C>A
XR_931861.1:n.187-5C>A
NM_017882.3:c.84-5C>A MANE Select	NP_060352.1:n.84-5C>A