Canonical Allele Identifier: CA2184879864

Gene: CLN6

Linked Data

• dbSNP Id: rs2093199789

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209874_68209876dup , CM000677.2:g.68209874_68209876dup	GRCh38
NC_000015.9:g.68502212_68502214dup , CM000677.1:g.68502212_68502214dup	GRCh37
NC_000015.8:g.66289266_66289268dup	NCBI36
NG_008764.2:g.52336_52338dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-117_543-115dup MANE Select	ENSP00000249806.5:n.543-117_543-115dup
ENST00000562767.2:c.84-12248_84-12246dup	ENSP00000456336.1:n.84-12248_84-12246dup
ENST00000563917.2:n.385-117_385-115dup
ENST00000565471.6:c.84-117_84-115dup	ENSP00000457384.1:n.84-117_84-115dup
ENST00000635747.1:c.*446-117_*446-115dup	ENSP00000490627.1:n.*446-117_*446-115dup
ENST00000636212.1:c.*213-117_*213-115dup	ENSP00000489851.1:n.*213-117_*213-115dup
ENST00000636314.1:c.239-117_239-115dup	ENSP00000490295.1:n.239-117_239-115dup
ENST00000636674.1:n.1645-117_1645-115dup
ENST00000636964.1:n.2071-117_2071-115dup
ENST00000637054.1:c.198+8660_198+8662dup	ENSP00000490807.1:n.198+8660_198+8662dup
ENST00000637223.1:c.*257-117_*257-115dup	ENSP00000490010.1:n.*257-117_*257-115dup
ENST00000637329.1:c.512-117_512-115dup
ENST00000637450.1:c.*197-117_*197-115dup	ENSP00000490204.1:n.*197-117_*197-115dup
ENST00000637494.1:c.255-117_255-115dup	ENSP00000490057.1:n.255-117_255-115dup
ENST00000637667.1:c.444-117_444-115dup	ENSP00000489843.1:n.444-117_444-115dup
ENST00000637823.1:c.368-117_368-115dup
ENST00000637888.1:c.198+8660_198+8662dup	ENSP00000490546.1:n.198+8660_198+8662dup
ENST00000638076.1:c.*146-117_*146-115dup	ENSP00000490373.1:n.*146-117_*146-115dup
ENST00000638144.1:n.186-117_186-115dup
ENST00000646164.1:c.38+8660_38+8662dup
ENST00000249806.9:c.543-117_543-115dup	ENSP00000249806.5:n.543-117_543-115dup
ENST00000538696.5:c.639-117_639-115dup	ENSP00000445770.1:n.639-117_639-115dup
ENST00000562767.1:c.84-12248_84-12246dup	ENSP00000456336.1:n.84-12248_84-12246dup
ENST00000563917.1:n.443-117_443-115dup
ENST00000564752.1:c.569-117_569-115dup	ENSP00000457822.1:n.569-117_569-115dup
ENST00000565471.5:c.84-117_84-115dup	ENSP00000457384.1:n.84-117_84-115dup
ENST00000566347.5:c.354-117_354-115dup	ENSP00000457783.1:n.354-117_354-115dup
ENST00000567060.5:c.298-156_298-154dup	ENSP00000454818.1:n.298-156_298-154dup
NM_017882.2:c.543-117_543-115dup	NP_060352.1:n.543-117_543-115dup
XR_931861.1:n.765-117_765-115dup
NM_017882.3:c.543-117_543-115dup MANE Select	NP_060352.1:n.543-117_543-115dup