Canonical Allele Identifier: CA2184876916

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207635A= , CM000677.2:g.68207635A=	GRCh38
NC_000015.9:g.68499973A= , CM000677.1:g.68499973A=	GRCh37
NC_000015.8:g.66287027A=	NCBI36
NG_008764.2:g.54577T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*505T= MANE Select	ENSP00000249806.5:n.*505T=
ENST00000562767.2:c.84-10007T=	ENSP00000456336.1:n.84-10007T=
ENST00000565471.6:c.*505T=	ENSP00000457384.1:n.*505T=
ENST00000636964.1:n.2969T=
ENST00000637054.1:c.199-10007T=	ENSP00000490807.1:n.199-10007T=
ENST00000637888.1:c.199-10007T=	ENSP00000490546.1:n.199-10007T=
ENST00000638026.1:n.46T=
ENST00000638076.1:c.*1044T=	ENSP00000490373.1:n.*1044T=
ENST00000646164.1:c.39-7954T=
ENST00000249806.9:c.*505T=	ENSP00000249806.5:n.*505T=
ENST00000562767.1:c.84-10007T=	ENSP00000456336.1:n.84-10007T=
ENST00000565471.5:c.*505T=	ENSP00000457384.1:n.*505T=
NM_017882.2:c.*505T=	NP_060352.1:n.*505T=
NM_017882.3:c.*505T= MANE Select	NP_060352.1:n.*505T=