Canonical Allele Identifier: CA2184872545

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211736T= , CM000677.2:g.68211736T=	GRCh38
NC_000015.9:g.68504074T= , CM000677.1:g.68504074T=	GRCh37
NC_000015.8:g.66291128T=	NCBI36
NG_008764.2:g.50476A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.425A= MANE Select	ENSP00000249806.5:p.Tyr142=
ENST00000562767.2:c.84-14108A=	ENSP00000456336.1:n.84-14108A=
ENST00000563917.2:n.267A=
ENST00000565471.6:c.84-1977A=	ENSP00000457384.1:n.84-1977A=
ENST00000635747.1:c.*328A=	ENSP00000490627.1:n.*328A=
ENST00000636212.1:c.303A=	ENSP00000489851.1:p.Leu101=
ENST00000636314.1:c.183-418A=	ENSP00000490295.1:n.183-418A=
ENST00000636674.1:n.1408A=
ENST00000636964.1:n.1597A=
ENST00000637054.1:c.198+6800A=	ENSP00000490807.1:n.198+6800A=
ENST00000637223.1:c.*201-418A=	ENSP00000490010.1:n.*201-418A=
ENST00000637329.1:c.394A=
ENST00000637450.1:c.*79A=	ENSP00000490204.1:n.*79A=
ENST00000637494.1:c.199-418A=	ENSP00000490057.1:n.199-418A=
ENST00000637667.1:c.326A=	ENSP00000489843.1:p.Tyr109=
ENST00000637823.1:c.224-93A=
ENST00000637888.1:c.198+6800A=	ENSP00000490546.1:n.198+6800A=
ENST00000638076.1:c.425A=	ENSP00000490373.1:p.Tyr142=
ENST00000638144.1:n.130-418A=
ENST00000646164.1:c.38+6800A=
ENST00000249806.9:c.425A=	ENSP00000249806.5:p.Tyr142=
ENST00000538696.5:c.521A=	ENSP00000445770.1:p.Tyr174=
ENST00000562767.1:c.84-14108A=	ENSP00000456336.1:n.84-14108A=
ENST00000563917.1:n.206A=
ENST00000564752.1:c.425A=	ENSP00000457822.1:p.Tyr142=
ENST00000565471.5:c.84-1977A=	ENSP00000457384.1:n.84-1977A=
ENST00000566347.5:c.298-418A=	ENSP00000457783.1:n.298-418A=
ENST00000567060.5:c.298-2016A=	ENSP00000454818.1:n.298-2016A=
NM_017882.2:c.425A=	NP_060352.1:p.Tyr142=
XR_931861.1:n.528A=
NM_017882.3:c.425A= MANE Select	NP_060352.1:p.Tyr142=