Canonical Allele Identifier: CA2184876813

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207508A= , CM000677.2:g.68207508A=	GRCh38
NC_000015.9:g.68499846A= , CM000677.1:g.68499846A=	GRCh37
NC_000015.8:g.66286900A=	NCBI36
NG_008764.2:g.54704T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*632T= MANE Select	ENSP00000249806.5:n.*632T=
ENST00000562767.2:c.84-9880T=	ENSP00000456336.1:n.84-9880T=
ENST00000636964.1:n.3096T=
ENST00000637054.1:c.199-9880T=	ENSP00000490807.1:n.199-9880T=
ENST00000637888.1:c.199-9880T=	ENSP00000490546.1:n.199-9880T=
ENST00000638026.1:n.173T=
ENST00000638076.1:c.*1171T=	ENSP00000490373.1:n.*1171T=
ENST00000646164.1:c.39-7827T=
ENST00000249806.9:c.*632T=	ENSP00000249806.5:n.*632T=
ENST00000562767.1:c.84-9880T=	ENSP00000456336.1:n.84-9880T=
NM_017882.2:c.*632T=	NP_060352.1:n.*632T=
NM_017882.3:c.*632T= MANE Select	NP_060352.1:n.*632T=