Canonical Allele Identifier: CA2695220937

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208379_68208387del , CM000677.2:g.68208379_68208387del	GRCh38
NC_000015.9:g.68500717_68500725del , CM000677.1:g.68500717_68500725del	GRCh37
NC_000015.8:g.66287771_66287779del	NCBI36
NG_008764.2:g.53833_53841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.697_705del MANE Select	ENSP00000249806.5:p.Leu233_Ile235del
ENST00000562767.2:c.84-10751_84-10743del	ENSP00000456336.1:n.84-10751_84-10743del
ENST00000563917.2:n.539_547del
ENST00000565471.6:c.238_246del	ENSP00000457384.1:p.Leu80_Ile82del
ENST00000635747.1:c.*600_*608del	ENSP00000490627.1:n.*600_*608del
ENST00000636212.1:c.*367_*375del	ENSP00000489851.1:n.*367_*375del
ENST00000636674.1:n.1799_1807del
ENST00000636964.1:n.2225_2233del
ENST00000637054.1:c.198+10157_198+10165del	ENSP00000490807.1:n.198+10157_198+10165del
ENST00000637329.1:c.666_674del
ENST00000637450.1:c.*351_*359del	ENSP00000490204.1:n.*351_*359del
ENST00000637494.1:c.409_417del	ENSP00000490057.1:p.Leu137_Ile139del
ENST00000637667.1:c.598_606del	ENSP00000489843.1:p.Leu200_Ile202del
ENST00000637823.1:c.522_530del
ENST00000637888.1:c.198+10157_198+10165del	ENSP00000490546.1:n.198+10157_198+10165del
ENST00000638076.1:c.*300_*308del	ENSP00000490373.1:n.*300_*308del
ENST00000638144.1:n.340_348del
ENST00000646164.1:c.39-8698_39-8690del
ENST00000249806.9:c.697_705del	ENSP00000249806.5:p.Leu233_Ile235del
ENST00000538696.5:c.793_801del	ENSP00000445770.1:p.Leu265_Ile267del
ENST00000562767.1:c.84-10751_84-10743del	ENSP00000456336.1:n.84-10751_84-10743del
ENST00000564752.1:c.*81_*89del	ENSP00000457822.1:n.*81_*89del
ENST00000565471.5:c.238_246del	ENSP00000457384.1:p.Leu80_Ile82del
ENST00000566347.5:c.508_516del	ENSP00000457783.1:p.Leu170_Ile172del
ENST00000567060.5:c.*95_*103del	ENSP00000454818.1:n.*95_*103del
NM_017882.2:c.697_705del	NP_060352.1:p.Leu233_Ile235del
NM_017882.3:c.697_705del MANE Select	NP_060352.1:p.Leu233_Ile235del