Canonical Allele Identifier: CA2184879778

Gene: CLN6

Linked Data

• dbSNP Id: rs2093199405

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209780_68209784dup , CM000677.2:g.68209780_68209784dup	GRCh38
NC_000015.9:g.68502118_68502122dup , CM000677.1:g.68502118_68502122dup	GRCh37
NC_000015.8:g.66289172_66289176dup	NCBI36
NG_008764.2:g.52428_52432dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-25_543-21dup MANE Select	ENSP00000249806.5:n.543-25_543-21dup
ENST00000562767.2:c.84-12156_84-12152dup	ENSP00000456336.1:n.84-12156_84-12152dup
ENST00000563917.2:n.385-25_385-21dup
ENST00000565471.6:c.84-25_84-21dup	ENSP00000457384.1:n.84-25_84-21dup
ENST00000635747.1:c.*446-25_*446-21dup	ENSP00000490627.1:n.*446-25_*446-21dup
ENST00000636212.1:c.*213-25_*213-21dup	ENSP00000489851.1:n.*213-25_*213-21dup
ENST00000636314.1:c.239-25_239-21dup	ENSP00000490295.1:n.239-25_239-21dup
ENST00000636674.1:n.1645-25_1645-21dup
ENST00000636964.1:n.2071-25_2071-21dup
ENST00000637054.1:c.198+8752_198+8756dup	ENSP00000490807.1:n.198+8752_198+8756dup
ENST00000637223.1:c.*257-25_*257-21dup	ENSP00000490010.1:n.*257-25_*257-21dup
ENST00000637329.1:c.512-25_512-21dup
ENST00000637450.1:c.*197-25_*197-21dup	ENSP00000490204.1:n.*197-25_*197-21dup
ENST00000637494.1:c.255-25_255-21dup	ENSP00000490057.1:n.255-25_255-21dup
ENST00000637667.1:c.444-25_444-21dup	ENSP00000489843.1:n.444-25_444-21dup
ENST00000637823.1:c.368-25_368-21dup
ENST00000637888.1:c.198+8752_198+8756dup	ENSP00000490546.1:n.198+8752_198+8756dup
ENST00000638076.1:c.*146-25_*146-21dup	ENSP00000490373.1:n.*146-25_*146-21dup
ENST00000638144.1:n.186-25_186-21dup
ENST00000646164.1:c.38+8752_38+8756dup
ENST00000249806.9:c.543-25_543-21dup	ENSP00000249806.5:n.543-25_543-21dup
ENST00000538696.5:c.639-25_639-21dup	ENSP00000445770.1:n.639-25_639-21dup
ENST00000562767.1:c.84-12156_84-12152dup	ENSP00000456336.1:n.84-12156_84-12152dup
ENST00000563917.1:n.443-25_443-21dup
ENST00000564752.1:c.569-25_569-21dup	ENSP00000457822.1:n.569-25_569-21dup
ENST00000565471.5:c.84-25_84-21dup	ENSP00000457384.1:n.84-25_84-21dup
ENST00000566347.5:c.354-25_354-21dup	ENSP00000457783.1:n.354-25_354-21dup
ENST00000567060.5:c.298-64_298-60dup	ENSP00000454818.1:n.298-64_298-60dup
NM_017882.2:c.543-25_543-21dup	NP_060352.1:n.543-25_543-21dup
XR_931861.1:n.765-25_765-21dup
NM_017882.3:c.543-25_543-21dup MANE Select	NP_060352.1:n.543-25_543-21dup