Canonical Allele Identifier: CA2629165002

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211704-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211708dup , CM000677.2:g.68211708dup	GRCh38
NC_000015.9:g.68504046dup , CM000677.1:g.68504046dup	GRCh37
NC_000015.8:g.66291100dup	NCBI36
NG_008764.2:g.50507dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.456dup MANE Select	ENSP00000249806.5:p.Ile153HisfsTer15
ENST00000562767.2:c.84-14077dup	ENSP00000456336.1:n.84-14077dup
ENST00000563917.2:n.298dup
ENST00000565471.6:c.84-1946dup	ENSP00000457384.1:n.84-1946dup
ENST00000635747.1:c.*359dup	ENSP00000490627.1:n.*359dup
ENST00000636212.1:c.*7dup	ENSP00000489851.1:n.*7dup
ENST00000636314.1:c.183-387dup	ENSP00000490295.1:n.183-387dup
ENST00000636674.1:n.1439dup
ENST00000636964.1:n.1628dup
ENST00000637054.1:c.198+6831dup	ENSP00000490807.1:n.198+6831dup
ENST00000637223.1:c.*201-387dup	ENSP00000490010.1:n.*201-387dup
ENST00000637329.1:c.425dup
ENST00000637450.1:c.*110dup	ENSP00000490204.1:n.*110dup
ENST00000637494.1:c.199-387dup	ENSP00000490057.1:n.199-387dup
ENST00000637667.1:c.357dup	ENSP00000489843.1:p.Ile120HisfsTer15
ENST00000637823.1:c.224-62dup
ENST00000637888.1:c.198+6831dup	ENSP00000490546.1:n.198+6831dup
ENST00000638076.1:c.456dup	ENSP00000490373.1:p.Ile153HisfsTer?
ENST00000638144.1:n.130-387dup
ENST00000646164.1:c.38+6831dup
ENST00000249806.9:c.456dup	ENSP00000249806.5:p.Ile153HisfsTer15
ENST00000538696.5:c.552dup	ENSP00000445770.1:p.Ile185HisfsTer15
ENST00000562767.1:c.84-14077dup	ENSP00000456336.1:n.84-14077dup
ENST00000563917.1:n.237dup
ENST00000564752.1:c.456dup	ENSP00000457822.1:p.Ile153HisfsTer?
ENST00000565471.5:c.84-1946dup	ENSP00000457384.1:n.84-1946dup
ENST00000566347.5:c.298-387dup	ENSP00000457783.1:n.298-387dup
ENST00000567060.5:c.298-1985dup	ENSP00000454818.1:n.298-1985dup
NM_017882.2:c.456dup	NP_060352.1:p.Ile153HisfsTer15
XR_931861.1:n.559dup
NM_017882.3:c.456dup MANE Select	NP_060352.1:p.Ile153HisfsTer15