Canonical Allele Identifier: CA2184877842

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208189A= , CM000677.2:g.68208189A=	GRCh38
NC_000015.9:g.68500527A= , CM000677.1:g.68500527A=	GRCh37
NC_000015.8:g.66287581A=	NCBI36
NG_008764.2:g.54023T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.887T= MANE Select	ENSP00000249806.5:p.Val296=
ENST00000562767.2:c.84-10561T=	ENSP00000456336.1:n.84-10561T=
ENST00000565471.6:c.428T=	ENSP00000457384.1:p.Val143=
ENST00000635747.1:c.*790T=	ENSP00000490627.1:n.*790T=
ENST00000636212.1:c.*557T=	ENSP00000489851.1:n.*557T=
ENST00000636674.1:n.1989T=
ENST00000636964.1:n.2415T=
ENST00000637054.1:c.198+10347T=	ENSP00000490807.1:n.198+10347T=
ENST00000637329.1:c.856T=
ENST00000637450.1:c.*541T=	ENSP00000490204.1:n.*541T=
ENST00000637494.1:c.599T=	ENSP00000490057.1:p.Val200=
ENST00000637823.1:c.712T=
ENST00000637888.1:c.198+10347T=	ENSP00000490546.1:n.198+10347T=
ENST00000638076.1:c.*490T=	ENSP00000490373.1:n.*490T=
ENST00000638144.1:n.530T=
ENST00000646164.1:c.39-8508T=
ENST00000249806.9:c.887T=	ENSP00000249806.5:p.Val296=
ENST00000538696.5:c.983T=	ENSP00000445770.1:p.Val328=
ENST00000562767.1:c.84-10561T=	ENSP00000456336.1:n.84-10561T=
ENST00000565471.5:c.428T=	ENSP00000457384.1:p.Val143=
ENST00000566347.5:c.698T=	ENSP00000457783.1:p.Val233=
ENST00000567060.5:c.*285T=	ENSP00000454818.1:n.*285T=
NM_017882.2:c.887T=	NP_060352.1:p.Val296=
NM_017882.3:c.887T= MANE Select	NP_060352.1:p.Val296=