Canonical Allele Identifier: CA2629164778

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211289-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211290dup , CM000677.2:g.68211290dup	GRCh38
NC_000015.9:g.68503628dup , CM000677.1:g.68503628dup	GRCh37
NC_000015.8:g.66290682dup	NCBI36
NG_008764.2:g.50922dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.515dup MANE Select	ENSP00000249806.5:p.Tyr172Ter
ENST00000562767.2:c.84-13662dup	ENSP00000456336.1:n.84-13662dup
ENST00000563917.2:n.357dup
ENST00000565471.6:c.84-1531dup	ENSP00000457384.1:n.84-1531dup
ENST00000635747.1:c.*418dup	ENSP00000490627.1:n.*418dup
ENST00000636212.1:c.*185dup	ENSP00000489851.1:n.*185dup
ENST00000636314.1:c.211dup	ENSP00000490295.1:p.Met71AsnfsTer?
ENST00000636674.1:n.1617dup
ENST00000636964.1:n.2043dup
ENST00000637054.1:c.198+7246dup	ENSP00000490807.1:n.198+7246dup
ENST00000637223.1:c.*229dup	ENSP00000490010.1:n.*229dup
ENST00000637329.1:c.484dup
ENST00000637450.1:c.*169dup	ENSP00000490204.1:n.*169dup
ENST00000637494.1:c.227dup	ENSP00000490057.1:p.Tyr76Ter
ENST00000637667.1:c.416dup	ENSP00000489843.1:p.Tyr139Ter
ENST00000637823.1:c.340dup
ENST00000637888.1:c.198+7246dup	ENSP00000490546.1:n.198+7246dup
ENST00000638076.1:c.*118dup	ENSP00000490373.1:n.*118dup
ENST00000638144.1:n.158dup
ENST00000646164.1:c.38+7246dup
ENST00000249806.9:c.515dup	ENSP00000249806.5:p.Tyr172Ter
ENST00000538696.5:c.611dup	ENSP00000445770.1:p.Tyr204Ter
ENST00000562767.1:c.84-13662dup	ENSP00000456336.1:n.84-13662dup
ENST00000563917.1:n.415dup
ENST00000564752.1:c.541dup	ENSP00000457822.1:p.Met181AsnfsTer?
ENST00000565471.5:c.84-1531dup	ENSP00000457384.1:n.84-1531dup
ENST00000566347.5:c.326dup	ENSP00000457783.1:p.Tyr109Ter
ENST00000567060.5:c.298-1570dup	ENSP00000454818.1:n.298-1570dup
NM_017882.2:c.515dup	NP_060352.1:p.Tyr172Ter
XR_931861.1:n.737dup
NM_017882.3:c.515dup MANE Select	NP_060352.1:p.Tyr172Ter