Canonical Allele Identifier: CA2184878164

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208329C= , CM000677.2:g.68208329C=	GRCh38
NC_000015.9:g.68500667C= , CM000677.1:g.68500667C=	GRCh37
NC_000015.8:g.66287721C=	NCBI36
NG_008764.2:g.53883G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.747G= MANE Select	ENSP00000249806.5:p.Lys249=
ENST00000562767.2:c.84-10701G=	ENSP00000456336.1:n.84-10701G=
ENST00000565471.6:c.288G=	ENSP00000457384.1:p.Lys96=
ENST00000635747.1:c.*650G=	ENSP00000490627.1:n.*650G=
ENST00000636212.1:c.*417G=	ENSP00000489851.1:n.*417G=
ENST00000636674.1:n.1849G=
ENST00000636964.1:n.2275G=
ENST00000637054.1:c.198+10207G=	ENSP00000490807.1:n.198+10207G=
ENST00000637329.1:c.716G=
ENST00000637450.1:c.*401G=	ENSP00000490204.1:n.*401G=
ENST00000637494.1:c.459G=	ENSP00000490057.1:p.Lys153=
ENST00000637667.1:c.648G=	ENSP00000489843.1:p.Lys216=
ENST00000637823.1:c.572G=
ENST00000637888.1:c.198+10207G=	ENSP00000490546.1:n.198+10207G=
ENST00000638076.1:c.*350G=	ENSP00000490373.1:n.*350G=
ENST00000638144.1:n.390G=
ENST00000646164.1:c.39-8648G=
ENST00000249806.9:c.747G=	ENSP00000249806.5:p.Lys249=
ENST00000538696.5:c.843G=	ENSP00000445770.1:p.Lys281=
ENST00000562767.1:c.84-10701G=	ENSP00000456336.1:n.84-10701G=
ENST00000564752.1:c.*131G=	ENSP00000457822.1:n.*131G=
ENST00000565471.5:c.288G=	ENSP00000457384.1:p.Lys96=
ENST00000566347.5:c.558G=	ENSP00000457783.1:p.Lys186=
ENST00000567060.5:c.*145G=	ENSP00000454818.1:n.*145G=
NM_017882.2:c.747G=	NP_060352.1:p.Lys249=
NM_017882.3:c.747G= MANE Select	NP_060352.1:p.Lys249=