Canonical Allele Identifier: CA2184878454

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218595G= , CM000677.2:g.68218595G=	GRCh38
NC_000015.9:g.68510933G= , CM000677.1:g.68510933G=	GRCh37
NC_000015.8:g.66297987G=	NCBI36
NG_008764.2:g.43617C=

Transcript Alleles

HGVS	Amino-acid Change
NM_017882.3:c.139C= MANE Select	NP_060352.1:p.Leu47=
ENST00000249806.11:c.139C= MANE Select	ENSP00000249806.5:p.Leu47=
NM_017882.2:c.139C=	NP_060352.1:p.Leu47=
ENST00000249806.9:c.139C=	ENSP00000249806.5:p.Leu47=
ENST00000538696.5:c.235C=	ENSP00000445770.1:p.Leu79=
ENST00000562767.1:c.83+10907C=	ENSP00000456336.1:n.83+10907C=
ENST00000562767.2:c.83+10907C=	ENSP00000456336.1:n.83+10907C=
ENST00000563917.2:n.41-4207C=
ENST00000564752.1:c.139C=	ENSP00000457822.1:p.Leu47=
ENST00000564846.1:n.571C=
ENST00000565471.5:c.84-8836C=	ENSP00000457384.1:n.84-8836C=
ENST00000565471.6:c.84-8836C=	ENSP00000457384.1:n.84-8836C=
ENST00000566347.5:c.139C=	ENSP00000457783.1:p.Leu47=
ENST00000567060.5:c.139C=	ENSP00000454818.1:p.Leu47=
ENST00000569336.1:n.225C=
ENST00000569336.2:n.48C=
ENST00000635747.1:c.*42C=	ENSP00000490627.1:n.*42C=
ENST00000636020.1:n.271C=
ENST00000636212.1:c.139C=	ENSP00000489851.1:p.Leu47=
ENST00000636314.1:c.84-4207C=	ENSP00000490295.1:n.84-4207C=
ENST00000636876.1:c.*159C=	ENSP00000489950.1:n.*159C=
ENST00000637054.1:c.139C=	ENSP00000490807.1:p.Leu47=
ENST00000637223.1:c.*42C=	ENSP00000490010.1:n.*42C=
ENST00000637329.1:c.50C=
ENST00000637450.1:c.84-4207C=	ENSP00000490204.1:n.84-4207C=
ENST00000637494.1:c.139C=	ENSP00000490057.1:p.Leu47=
ENST00000637667.1:c.139C=	ENSP00000489843.1:p.Leu47=
ENST00000637823.1:c.65C=
ENST00000637888.1:c.139C=	ENSP00000490546.1:p.Leu47=
ENST00000638076.1:c.139C=	ENSP00000490373.1:p.Leu47=
ENST00000638144.1:n.31-4207C=
XR_931861.1:n.242C=