Canonical Allele Identifier: CA2804592653

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209935_68209936insA , CM000677.2:g.68209935_68209936insA	GRCh38
NC_000015.9:g.68502273_68502274insA , CM000677.1:g.68502273_68502274insA	GRCh37
NC_000015.8:g.66289327_66289328insA	NCBI36
NG_008764.2:g.52276_52277insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-177_543-176insT MANE Select	ENSP00000249806.5:n.543-177_543-176insT
ENST00000562767.2:c.84-12308_84-12307insT	ENSP00000456336.1:n.84-12308_84-12307insT
ENST00000563917.2:n.385-177_385-176insT
ENST00000565471.6:c.84-177_84-176insT	ENSP00000457384.1:n.84-177_84-176insT
ENST00000635747.1:c.*446-177_*446-176insT	ENSP00000490627.1:n.*446-177_*446-176insT
ENST00000636212.1:c.*213-177_*213-176insT	ENSP00000489851.1:n.*213-177_*213-176insT
ENST00000636314.1:c.239-177_239-176insT	ENSP00000490295.1:n.239-177_239-176insT
ENST00000636674.1:n.1645-177_1645-176insT
ENST00000636964.1:n.2071-177_2071-176insT
ENST00000637054.1:c.198+8600_198+8601insT	ENSP00000490807.1:n.198+8600_198+8601insT
ENST00000637223.1:c.*257-177_*257-176insT	ENSP00000490010.1:n.*257-177_*257-176insT
ENST00000637329.1:c.512-177_512-176insT
ENST00000637450.1:c.*197-177_*197-176insT	ENSP00000490204.1:n.*197-177_*197-176insT
ENST00000637494.1:c.255-177_255-176insT	ENSP00000490057.1:n.255-177_255-176insT
ENST00000637667.1:c.444-177_444-176insT	ENSP00000489843.1:n.444-177_444-176insT
ENST00000637823.1:c.368-177_368-176insT
ENST00000637888.1:c.198+8600_198+8601insT	ENSP00000490546.1:n.198+8600_198+8601insT
ENST00000638076.1:c.*146-177_*146-176insT	ENSP00000490373.1:n.*146-177_*146-176insT
ENST00000638144.1:n.186-177_186-176insT
ENST00000646164.1:c.38+8600_38+8601insT
ENST00000249806.9:c.543-177_543-176insT	ENSP00000249806.5:n.543-177_543-176insT
ENST00000538696.5:c.639-177_639-176insT	ENSP00000445770.1:n.639-177_639-176insT
ENST00000562767.1:c.84-12308_84-12307insT	ENSP00000456336.1:n.84-12308_84-12307insT
ENST00000563917.1:n.443-177_443-176insT
ENST00000564752.1:c.569-177_569-176insT	ENSP00000457822.1:n.569-177_569-176insT
ENST00000565471.5:c.84-177_84-176insT	ENSP00000457384.1:n.84-177_84-176insT
ENST00000566347.5:c.354-177_354-176insT	ENSP00000457783.1:n.354-177_354-176insT
ENST00000567060.5:c.298-216_298-215insT	ENSP00000454818.1:n.298-216_298-215insT
NM_017882.2:c.543-177_543-176insT	NP_060352.1:n.543-177_543-176insT
XR_931861.1:n.765-177_765-176insT
NM_017882.3:c.543-177_543-176insT MANE Select	NP_060352.1:n.543-177_543-176insT