Canonical Allele Identifier: CA2184876824

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207518G= , CM000677.2:g.68207518G=	GRCh38
NC_000015.9:g.68499856G= , CM000677.1:g.68499856G=	GRCh37
NC_000015.8:g.66286910G=	NCBI36
NG_008764.2:g.54694C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*622C= MANE Select	ENSP00000249806.5:n.*622C=
ENST00000562767.2:c.84-9890C=	ENSP00000456336.1:n.84-9890C=
ENST00000636964.1:n.3086C=
ENST00000637054.1:c.199-9890C=	ENSP00000490807.1:n.199-9890C=
ENST00000637888.1:c.199-9890C=	ENSP00000490546.1:n.199-9890C=
ENST00000638026.1:n.163C=
ENST00000638076.1:c.*1161C=	ENSP00000490373.1:n.*1161C=
ENST00000646164.1:c.39-7837C=
ENST00000249806.9:c.*622C=	ENSP00000249806.5:n.*622C=
ENST00000562767.1:c.84-9890C=	ENSP00000456336.1:n.84-9890C=
NM_017882.2:c.*622C=	NP_060352.1:n.*622C=
NM_017882.3:c.*622C= MANE Select	NP_060352.1:n.*622C=