Canonical Allele Identifier: CA2629164353

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209710-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209713del , CM000677.2:g.68209713del	GRCh38
NC_000015.9:g.68502051del , CM000677.1:g.68502051del	GRCh37
NC_000015.8:g.66289105del	NCBI36
NG_008764.2:g.52501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.591del MANE Select	ENSP00000249806.5:p.Phe197LeufsTer9
ENST00000562767.2:c.84-12083del	ENSP00000456336.1:n.84-12083del
ENST00000563917.2:n.433del
ENST00000565471.6:c.132del	ENSP00000457384.1:p.Phe44LeufsTer9
ENST00000635747.1:c.*494del	ENSP00000490627.1:n.*494del
ENST00000636212.1:c.*261del	ENSP00000489851.1:n.*261del
ENST00000636314.1:c.287del	ENSP00000490295.1:p.Leu96TyrfsTer4
ENST00000636674.1:n.1693del
ENST00000636964.1:n.2119del
ENST00000637054.1:c.198+8825del	ENSP00000490807.1:n.198+8825del
ENST00000637223.1:c.*305del	ENSP00000490010.1:n.*305del
ENST00000637329.1:c.560del
ENST00000637450.1:c.*245del	ENSP00000490204.1:n.*245del
ENST00000637494.1:c.303del	ENSP00000490057.1:p.Phe101LeufsTer9
ENST00000637667.1:c.492del	ENSP00000489843.1:p.Phe164LeufsTer9
ENST00000637823.1:c.416del
ENST00000637888.1:c.198+8825del	ENSP00000490546.1:n.198+8825del
ENST00000638076.1:c.*194del	ENSP00000490373.1:n.*194del
ENST00000638144.1:n.234del
ENST00000646164.1:c.38+8825del
ENST00000249806.9:c.591del	ENSP00000249806.5:p.Phe197LeufsTer9
ENST00000538696.5:c.687del	ENSP00000445770.1:p.Phe229LeufsTer9
ENST00000562767.1:c.84-12083del	ENSP00000456336.1:n.84-12083del
ENST00000563917.1:n.491del
ENST00000564752.1:c.617del	ENSP00000457822.1:p.Leu206TyrfsTer4
ENST00000565471.5:c.132del	ENSP00000457384.1:p.Phe44LeufsTer9
ENST00000566347.5:c.402del	ENSP00000457783.1:p.Phe134LeufsTer9
ENST00000567060.5:c.307del	ENSP00000454818.1:p.Tyr103ThrfsTer?
NM_017882.2:c.591del	NP_060352.1:p.Phe197LeufsTer9
XR_931861.1:n.813del
NM_017882.3:c.591del MANE Select	NP_060352.1:p.Phe197LeufsTer9