Canonical Allele Identifier: CA2629164051

Gene: CLN6

Linked Data

• gnomAD v4: 15-68218593-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218594del , CM000677.2:g.68218594del	GRCh38
NC_000015.9:g.68510932del , CM000677.1:g.68510932del	GRCh37
NC_000015.8:g.66297986del	NCBI36
NG_008764.2:g.43618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.140del MANE Select	ENSP00000249806.5:p.Leu47ProfsTer?
ENST00000562767.2:c.83+10908del	ENSP00000456336.1:n.83+10908del
ENST00000563917.2:n.41-4206del
ENST00000565471.6:c.84-8835del	ENSP00000457384.1:n.84-8835del
ENST00000569336.2:n.49del
ENST00000635747.1:c.*43del	ENSP00000490627.1:n.*43del
ENST00000636020.1:n.272del
ENST00000636212.1:c.140del	ENSP00000489851.1:p.Leu47ProfsTer?
ENST00000636314.1:c.84-4206del	ENSP00000490295.1:n.84-4206del
ENST00000636876.1:c.*160del	ENSP00000489950.1:n.*160del
ENST00000637054.1:c.140del	ENSP00000490807.1:p.Leu47ProfsTer20
ENST00000637223.1:c.*43del	ENSP00000490010.1:n.*43del
ENST00000637329.1:c.51del
ENST00000637450.1:c.84-4206del	ENSP00000490204.1:n.84-4206del
ENST00000637494.1:c.140del	ENSP00000490057.1:p.Leu47ProfsTer20
ENST00000637667.1:c.140del	ENSP00000489843.1:p.Leu47ProfsTer?
ENST00000637823.1:c.66del
ENST00000637888.1:c.140del	ENSP00000490546.1:p.Leu47ProfsTer20
ENST00000638076.1:c.140del	ENSP00000490373.1:p.Leu47ProfsTer?
ENST00000638144.1:n.31-4206del
ENST00000249806.9:c.140del	ENSP00000249806.5:p.Leu47ProfsTer?
ENST00000538696.5:c.236del	ENSP00000445770.1:p.Leu79ProfsTer?
ENST00000562767.1:c.83+10908del	ENSP00000456336.1:n.83+10908del
ENST00000564752.1:c.140del	ENSP00000457822.1:p.Leu47ProfsTer?
ENST00000564846.1:n.572del
ENST00000565471.5:c.84-8835del	ENSP00000457384.1:n.84-8835del
ENST00000566347.5:c.140del	ENSP00000457783.1:p.Leu47ProfsTer?
ENST00000567060.5:c.140del	ENSP00000454818.1:p.Leu47ProfsTer?
ENST00000569336.1:n.226del
NM_017882.2:c.140del	NP_060352.1:p.Leu47ProfsTer?
XR_931861.1:n.243del
NM_017882.3:c.140del MANE Select	NP_060352.1:p.Leu47ProfsTer?