Canonical Allele Identifier: CA2804592655

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209937_68209938insAGT , CM000677.2:g.68209937_68209938insAGT	GRCh38
NC_000015.9:g.68502275_68502276insAGT , CM000677.1:g.68502275_68502276insAGT	GRCh37
NC_000015.8:g.66289329_66289330insAGT	NCBI36
NG_008764.2:g.52274_52275insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-179_543-178insACT MANE Select	ENSP00000249806.5:n.543-179_543-178insACT
ENST00000562767.2:c.84-12310_84-12309insACT	ENSP00000456336.1:n.84-12310_84-12309insACT
ENST00000563917.2:n.385-179_385-178insACT
ENST00000565471.6:c.84-179_84-178insACT	ENSP00000457384.1:n.84-179_84-178insACT
ENST00000635747.1:c.*446-179_*446-178insACT	ENSP00000490627.1:n.*446-179_*446-178insACT
ENST00000636212.1:c.*213-179_*213-178insACT	ENSP00000489851.1:n.*213-179_*213-178insACT
ENST00000636314.1:c.239-179_239-178insACT	ENSP00000490295.1:n.239-179_239-178insACT
ENST00000636674.1:n.1645-179_1645-178insACT
ENST00000636964.1:n.2071-179_2071-178insACT
ENST00000637054.1:c.198+8598_198+8599insACT	ENSP00000490807.1:n.198+8598_198+8599insACT
ENST00000637223.1:c.*257-179_*257-178insACT	ENSP00000490010.1:n.*257-179_*257-178insACT
ENST00000637329.1:c.512-179_512-178insACT
ENST00000637450.1:c.*197-179_*197-178insACT	ENSP00000490204.1:n.*197-179_*197-178insACT
ENST00000637494.1:c.255-179_255-178insACT	ENSP00000490057.1:n.255-179_255-178insACT
ENST00000637667.1:c.444-179_444-178insACT	ENSP00000489843.1:n.444-179_444-178insACT
ENST00000637823.1:c.368-179_368-178insACT
ENST00000637888.1:c.198+8598_198+8599insACT	ENSP00000490546.1:n.198+8598_198+8599insACT
ENST00000638076.1:c.*146-179_*146-178insACT	ENSP00000490373.1:n.*146-179_*146-178insACT
ENST00000638144.1:n.186-179_186-178insACT
ENST00000646164.1:c.38+8598_38+8599insACT
ENST00000249806.9:c.543-179_543-178insACT	ENSP00000249806.5:n.543-179_543-178insACT
ENST00000538696.5:c.639-179_639-178insACT	ENSP00000445770.1:n.639-179_639-178insACT
ENST00000562767.1:c.84-12310_84-12309insACT	ENSP00000456336.1:n.84-12310_84-12309insACT
ENST00000563917.1:n.443-179_443-178insACT
ENST00000564752.1:c.569-179_569-178insACT	ENSP00000457822.1:n.569-179_569-178insACT
ENST00000565471.5:c.84-179_84-178insACT	ENSP00000457384.1:n.84-179_84-178insACT
ENST00000566347.5:c.354-179_354-178insACT	ENSP00000457783.1:n.354-179_354-178insACT
ENST00000567060.5:c.298-218_298-217insACT	ENSP00000454818.1:n.298-218_298-217insACT
NM_017882.2:c.543-179_543-178insACT	NP_060352.1:n.543-179_543-178insACT
XR_931861.1:n.765-179_765-178insACT
NM_017882.3:c.543-179_543-178insACT MANE Select	NP_060352.1:n.543-179_543-178insACT