Canonical Allele Identifier: CA2804592602

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209889_68209890insACA , CM000677.2:g.68209889_68209890insACA	GRCh38
NC_000015.9:g.68502227_68502228insACA , CM000677.1:g.68502227_68502228insACA	GRCh37
NC_000015.8:g.66289281_66289282insACA	NCBI36
NG_008764.2:g.52322_52323insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-131_543-130insTGT MANE Select	ENSP00000249806.5:n.543-131_543-130insTGT
ENST00000562767.2:c.84-12262_84-12261insTGT	ENSP00000456336.1:n.84-12262_84-12261insTGT
ENST00000563917.2:n.385-131_385-130insTGT
ENST00000565471.6:c.84-131_84-130insTGT	ENSP00000457384.1:n.84-131_84-130insTGT
ENST00000635747.1:c.*446-131_*446-130insTGT	ENSP00000490627.1:n.*446-131_*446-130insTGT
ENST00000636212.1:c.*213-131_*213-130insTGT	ENSP00000489851.1:n.*213-131_*213-130insTGT
ENST00000636314.1:c.239-131_239-130insTGT	ENSP00000490295.1:n.239-131_239-130insTGT
ENST00000636674.1:n.1645-131_1645-130insTGT
ENST00000636964.1:n.2071-131_2071-130insTGT
ENST00000637054.1:c.198+8646_198+8647insTGT	ENSP00000490807.1:n.198+8646_198+8647insTGT
ENST00000637223.1:c.*257-131_*257-130insTGT	ENSP00000490010.1:n.*257-131_*257-130insTGT
ENST00000637329.1:c.512-131_512-130insTGT
ENST00000637450.1:c.*197-131_*197-130insTGT	ENSP00000490204.1:n.*197-131_*197-130insTGT
ENST00000637494.1:c.255-131_255-130insTGT	ENSP00000490057.1:n.255-131_255-130insTGT
ENST00000637667.1:c.444-131_444-130insTGT	ENSP00000489843.1:n.444-131_444-130insTGT
ENST00000637823.1:c.368-131_368-130insTGT
ENST00000637888.1:c.198+8646_198+8647insTGT	ENSP00000490546.1:n.198+8646_198+8647insTGT
ENST00000638076.1:c.*146-131_*146-130insTGT	ENSP00000490373.1:n.*146-131_*146-130insTGT
ENST00000638144.1:n.186-131_186-130insTGT
ENST00000646164.1:c.38+8646_38+8647insTGT
ENST00000249806.9:c.543-131_543-130insTGT	ENSP00000249806.5:n.543-131_543-130insTGT
ENST00000538696.5:c.639-131_639-130insTGT	ENSP00000445770.1:n.639-131_639-130insTGT
ENST00000562767.1:c.84-12262_84-12261insTGT	ENSP00000456336.1:n.84-12262_84-12261insTGT
ENST00000563917.1:n.443-131_443-130insTGT
ENST00000564752.1:c.569-131_569-130insTGT	ENSP00000457822.1:n.569-131_569-130insTGT
ENST00000565471.5:c.84-131_84-130insTGT	ENSP00000457384.1:n.84-131_84-130insTGT
ENST00000566347.5:c.354-131_354-130insTGT	ENSP00000457783.1:n.354-131_354-130insTGT
ENST00000567060.5:c.298-170_298-169insTGT	ENSP00000454818.1:n.298-170_298-169insTGT
NM_017882.2:c.543-131_543-130insTGT	NP_060352.1:n.543-131_543-130insTGT
XR_931861.1:n.765-131_765-130insTGT
NM_017882.3:c.543-131_543-130insTGT MANE Select	NP_060352.1:n.543-131_543-130insTGT