Canonical Allele Identifier: CA2804592591

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209881_68209882insACAC , CM000677.2:g.68209881_68209882insACAC	GRCh38
NC_000015.9:g.68502219_68502220insACAC , CM000677.1:g.68502219_68502220insACAC	GRCh37
NC_000015.8:g.66289273_66289274insACAC	NCBI36
NG_008764.2:g.52330_52331insGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-123_543-122insGTGT MANE Select	ENSP00000249806.5:n.543-123_543-122insGTGT
ENST00000562767.2:c.84-12254_84-12253insGTGT	ENSP00000456336.1:n.84-12254_84-12253insGTGT
ENST00000563917.2:n.385-123_385-122insGTGT
ENST00000565471.6:c.84-123_84-122insGTGT	ENSP00000457384.1:n.84-123_84-122insGTGT
ENST00000635747.1:c.*446-123_*446-122insGTGT	ENSP00000490627.1:n.*446-123_*446-122insGTGT
ENST00000636212.1:c.*213-123_*213-122insGTGT	ENSP00000489851.1:n.*213-123_*213-122insGTGT
ENST00000636314.1:c.239-123_239-122insGTGT	ENSP00000490295.1:n.239-123_239-122insGTGT
ENST00000636674.1:n.1645-123_1645-122insGTGT
ENST00000636964.1:n.2071-123_2071-122insGTGT
ENST00000637054.1:c.198+8654_198+8655insGTGT	ENSP00000490807.1:n.198+8654_198+8655insGTGT
ENST00000637223.1:c.*257-123_*257-122insGTGT	ENSP00000490010.1:n.*257-123_*257-122insGTGT
ENST00000637329.1:c.512-123_512-122insGTGT
ENST00000637450.1:c.*197-123_*197-122insGTGT	ENSP00000490204.1:n.*197-123_*197-122insGTGT
ENST00000637494.1:c.255-123_255-122insGTGT	ENSP00000490057.1:n.255-123_255-122insGTGT
ENST00000637667.1:c.444-123_444-122insGTGT	ENSP00000489843.1:n.444-123_444-122insGTGT
ENST00000637823.1:c.368-123_368-122insGTGT
ENST00000637888.1:c.198+8654_198+8655insGTGT	ENSP00000490546.1:n.198+8654_198+8655insGTGT
ENST00000638076.1:c.*146-123_*146-122insGTGT	ENSP00000490373.1:n.*146-123_*146-122insGTGT
ENST00000638144.1:n.186-123_186-122insGTGT
ENST00000646164.1:c.38+8654_38+8655insGTGT
ENST00000249806.9:c.543-123_543-122insGTGT	ENSP00000249806.5:n.543-123_543-122insGTGT
ENST00000538696.5:c.639-123_639-122insGTGT	ENSP00000445770.1:n.639-123_639-122insGTGT
ENST00000562767.1:c.84-12254_84-12253insGTGT	ENSP00000456336.1:n.84-12254_84-12253insGTGT
ENST00000563917.1:n.443-123_443-122insGTGT
ENST00000564752.1:c.569-123_569-122insGTGT	ENSP00000457822.1:n.569-123_569-122insGTGT
ENST00000565471.5:c.84-123_84-122insGTGT	ENSP00000457384.1:n.84-123_84-122insGTGT
ENST00000566347.5:c.354-123_354-122insGTGT	ENSP00000457783.1:n.354-123_354-122insGTGT
ENST00000567060.5:c.298-162_298-161insGTGT	ENSP00000454818.1:n.298-162_298-161insGTGT
NM_017882.2:c.543-123_543-122insGTGT	NP_060352.1:n.543-123_543-122insGTGT
XR_931861.1:n.765-123_765-122insGTGT
NM_017882.3:c.543-123_543-122insGTGT MANE Select	NP_060352.1:n.543-123_543-122insGTGT