Canonical Allele Identifier: CA2804592622

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209900_68209901insAGT , CM000677.2:g.68209900_68209901insAGT	GRCh38
NC_000015.9:g.68502238_68502239insAGT , CM000677.1:g.68502238_68502239insAGT	GRCh37
NC_000015.8:g.66289292_66289293insAGT	NCBI36
NG_008764.2:g.52311_52312insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-142_543-141insACT MANE Select	ENSP00000249806.5:n.543-142_543-141insACT
ENST00000562767.2:c.84-12273_84-12272insACT	ENSP00000456336.1:n.84-12273_84-12272insACT
ENST00000563917.2:n.385-142_385-141insACT
ENST00000565471.6:c.84-142_84-141insACT	ENSP00000457384.1:n.84-142_84-141insACT
ENST00000635747.1:c.*446-142_*446-141insACT	ENSP00000490627.1:n.*446-142_*446-141insACT
ENST00000636212.1:c.*213-142_*213-141insACT	ENSP00000489851.1:n.*213-142_*213-141insACT
ENST00000636314.1:c.239-142_239-141insACT	ENSP00000490295.1:n.239-142_239-141insACT
ENST00000636674.1:n.1645-142_1645-141insACT
ENST00000636964.1:n.2071-142_2071-141insACT
ENST00000637054.1:c.198+8635_198+8636insACT	ENSP00000490807.1:n.198+8635_198+8636insACT
ENST00000637223.1:c.*257-142_*257-141insACT	ENSP00000490010.1:n.*257-142_*257-141insACT
ENST00000637329.1:c.512-142_512-141insACT
ENST00000637450.1:c.*197-142_*197-141insACT	ENSP00000490204.1:n.*197-142_*197-141insACT
ENST00000637494.1:c.255-142_255-141insACT	ENSP00000490057.1:n.255-142_255-141insACT
ENST00000637667.1:c.444-142_444-141insACT	ENSP00000489843.1:n.444-142_444-141insACT
ENST00000637823.1:c.368-142_368-141insACT
ENST00000637888.1:c.198+8635_198+8636insACT	ENSP00000490546.1:n.198+8635_198+8636insACT
ENST00000638076.1:c.*146-142_*146-141insACT	ENSP00000490373.1:n.*146-142_*146-141insACT
ENST00000638144.1:n.186-142_186-141insACT
ENST00000646164.1:c.38+8635_38+8636insACT
ENST00000249806.9:c.543-142_543-141insACT	ENSP00000249806.5:n.543-142_543-141insACT
ENST00000538696.5:c.639-142_639-141insACT	ENSP00000445770.1:n.639-142_639-141insACT
ENST00000562767.1:c.84-12273_84-12272insACT	ENSP00000456336.1:n.84-12273_84-12272insACT
ENST00000563917.1:n.443-142_443-141insACT
ENST00000564752.1:c.569-142_569-141insACT	ENSP00000457822.1:n.569-142_569-141insACT
ENST00000565471.5:c.84-142_84-141insACT	ENSP00000457384.1:n.84-142_84-141insACT
ENST00000566347.5:c.354-142_354-141insACT	ENSP00000457783.1:n.354-142_354-141insACT
ENST00000567060.5:c.298-181_298-180insACT	ENSP00000454818.1:n.298-181_298-180insACT
NM_017882.2:c.543-142_543-141insACT	NP_060352.1:n.543-142_543-141insACT
XR_931861.1:n.765-142_765-141insACT
NM_017882.3:c.543-142_543-141insACT MANE Select	NP_060352.1:n.543-142_543-141insACT