Canonical Allele Identifier: CA2804592623

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209909_68209910insACA , CM000677.2:g.68209909_68209910insACA	GRCh38
NC_000015.9:g.68502247_68502248insACA , CM000677.1:g.68502247_68502248insACA	GRCh37
NC_000015.8:g.66289301_66289302insACA	NCBI36
NG_008764.2:g.52302_52303insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-151_543-150insTGT MANE Select	ENSP00000249806.5:n.543-151_543-150insTGT
ENST00000562767.2:c.84-12282_84-12281insTGT	ENSP00000456336.1:n.84-12282_84-12281insTGT
ENST00000563917.2:n.385-151_385-150insTGT
ENST00000565471.6:c.84-151_84-150insTGT	ENSP00000457384.1:n.84-151_84-150insTGT
ENST00000635747.1:c.*446-151_*446-150insTGT	ENSP00000490627.1:n.*446-151_*446-150insTGT
ENST00000636212.1:c.*213-151_*213-150insTGT	ENSP00000489851.1:n.*213-151_*213-150insTGT
ENST00000636314.1:c.239-151_239-150insTGT	ENSP00000490295.1:n.239-151_239-150insTGT
ENST00000636674.1:n.1645-151_1645-150insTGT
ENST00000636964.1:n.2071-151_2071-150insTGT
ENST00000637054.1:c.198+8626_198+8627insTGT	ENSP00000490807.1:n.198+8626_198+8627insTGT
ENST00000637223.1:c.*257-151_*257-150insTGT	ENSP00000490010.1:n.*257-151_*257-150insTGT
ENST00000637329.1:c.512-151_512-150insTGT
ENST00000637450.1:c.*197-151_*197-150insTGT	ENSP00000490204.1:n.*197-151_*197-150insTGT
ENST00000637494.1:c.255-151_255-150insTGT	ENSP00000490057.1:n.255-151_255-150insTGT
ENST00000637667.1:c.444-151_444-150insTGT	ENSP00000489843.1:n.444-151_444-150insTGT
ENST00000637823.1:c.368-151_368-150insTGT
ENST00000637888.1:c.198+8626_198+8627insTGT	ENSP00000490546.1:n.198+8626_198+8627insTGT
ENST00000638076.1:c.*146-151_*146-150insTGT	ENSP00000490373.1:n.*146-151_*146-150insTGT
ENST00000638144.1:n.186-151_186-150insTGT
ENST00000646164.1:c.38+8626_38+8627insTGT
ENST00000249806.9:c.543-151_543-150insTGT	ENSP00000249806.5:n.543-151_543-150insTGT
ENST00000538696.5:c.639-151_639-150insTGT	ENSP00000445770.1:n.639-151_639-150insTGT
ENST00000562767.1:c.84-12282_84-12281insTGT	ENSP00000456336.1:n.84-12282_84-12281insTGT
ENST00000563917.1:n.443-151_443-150insTGT
ENST00000564752.1:c.569-151_569-150insTGT	ENSP00000457822.1:n.569-151_569-150insTGT
ENST00000565471.5:c.84-151_84-150insTGT	ENSP00000457384.1:n.84-151_84-150insTGT
ENST00000566347.5:c.354-151_354-150insTGT	ENSP00000457783.1:n.354-151_354-150insTGT
ENST00000567060.5:c.298-190_298-189insTGT	ENSP00000454818.1:n.298-190_298-189insTGT
NM_017882.2:c.543-151_543-150insTGT	NP_060352.1:n.543-151_543-150insTGT
XR_931861.1:n.765-151_765-150insTGT
NM_017882.3:c.543-151_543-150insTGT MANE Select	NP_060352.1:n.543-151_543-150insTGT