Canonical Allele Identifier: CA2184877802

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208178A= , CM000677.2:g.68208178A=	GRCh38
NC_000015.9:g.68500516A= , CM000677.1:g.68500516A=	GRCh37
NC_000015.8:g.66287570A=	NCBI36
NG_008764.2:g.54034T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.898T= MANE Select	ENSP00000249806.5:p.Trp300=
ENST00000562767.2:c.84-10550T=	ENSP00000456336.1:n.84-10550T=
ENST00000565471.6:c.439T=	ENSP00000457384.1:p.Trp147=
ENST00000635747.1:c.*801T=	ENSP00000490627.1:n.*801T=
ENST00000636212.1:c.*568T=	ENSP00000489851.1:n.*568T=
ENST00000636674.1:n.2000T=
ENST00000636964.1:n.2426T=
ENST00000637054.1:c.198+10358T=	ENSP00000490807.1:n.198+10358T=
ENST00000637329.1:c.867T=
ENST00000637494.1:c.610T=	ENSP00000490057.1:p.Trp204=
ENST00000637888.1:c.198+10358T=	ENSP00000490546.1:n.198+10358T=
ENST00000638076.1:c.*501T=	ENSP00000490373.1:n.*501T=
ENST00000638144.1:n.541T=
ENST00000646164.1:c.39-8497T=
ENST00000249806.9:c.898T=	ENSP00000249806.5:p.Trp300=
ENST00000538696.5:c.994T=	ENSP00000445770.1:p.Trp332=
ENST00000562767.1:c.84-10550T=	ENSP00000456336.1:n.84-10550T=
ENST00000565471.5:c.439T=	ENSP00000457384.1:p.Trp147=
ENST00000566347.5:c.709T=	ENSP00000457783.1:p.Trp237=
ENST00000567060.5:c.*296T=	ENSP00000454818.1:n.*296T=
NM_017882.2:c.898T=	NP_060352.1:p.Trp300=
NM_017882.3:c.898T= MANE Select	NP_060352.1:p.Trp300=