Canonical Allele Identifier: CA2184879561

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209689A= , CM000677.2:g.68209689A=	GRCh38
NC_000015.9:g.68502027A= , CM000677.1:g.68502027A=	GRCh37
NC_000015.8:g.66289081A=	NCBI36
NG_008764.2:g.52523T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.613T= MANE Select	ENSP00000249806.5:p.Leu205=
ENST00000562767.2:c.84-12061T=	ENSP00000456336.1:n.84-12061T=
ENST00000563917.2:n.455T=
ENST00000565471.6:c.154T=	ENSP00000457384.1:p.Leu52=
ENST00000635747.1:c.*516T=	ENSP00000490627.1:n.*516T=
ENST00000636212.1:c.*283T=	ENSP00000489851.1:n.*283T=
ENST00000636314.1:c.309T=	ENSP00000490295.1:p.Ala103=
ENST00000636674.1:n.1715T=
ENST00000636964.1:n.2141T=
ENST00000637054.1:c.198+8847T=	ENSP00000490807.1:n.198+8847T=
ENST00000637329.1:c.582T=
ENST00000637450.1:c.*267T=	ENSP00000490204.1:n.*267T=
ENST00000637494.1:c.325T=	ENSP00000490057.1:p.Leu109=
ENST00000637667.1:c.514T=	ENSP00000489843.1:p.Leu172=
ENST00000637823.1:c.438T=
ENST00000637888.1:c.198+8847T=	ENSP00000490546.1:n.198+8847T=
ENST00000638076.1:c.*216T=	ENSP00000490373.1:n.*216T=
ENST00000638144.1:n.256T=
ENST00000646164.1:c.38+8847T=
ENST00000249806.9:c.613T=	ENSP00000249806.5:p.Leu205=
ENST00000538696.5:c.709T=	ENSP00000445770.1:p.Leu237=
ENST00000562767.1:c.84-12061T=	ENSP00000456336.1:n.84-12061T=
ENST00000563917.1:n.513T=
ENST00000564752.1:c.639T=	ENSP00000457822.1:p.Ala213=
ENST00000565471.5:c.154T=	ENSP00000457384.1:p.Leu52=
ENST00000566347.5:c.424T=	ENSP00000457783.1:p.Leu142=
ENST00000567060.5:c.*11T=	ENSP00000454818.1:n.*11T=
NM_017882.2:c.613T=	NP_060352.1:p.Leu205=
XR_931861.1:n.835T=
NM_017882.3:c.613T= MANE Select	NP_060352.1:p.Leu205=