Canonical Allele Identifier: CA2804592540

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209856_68209857insAGA , CM000677.2:g.68209856_68209857insAGA	GRCh38
NC_000015.9:g.68502194_68502195insAGA , CM000677.1:g.68502194_68502195insAGA	GRCh37
NC_000015.8:g.66289248_66289249insAGA	NCBI36
NG_008764.2:g.52355_52356insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-98_543-97insTCT MANE Select	ENSP00000249806.5:n.543-98_543-97insTCT
ENST00000562767.2:c.84-12229_84-12228insTCT	ENSP00000456336.1:n.84-12229_84-12228insTCT
ENST00000563917.2:n.385-98_385-97insTCT
ENST00000565471.6:c.84-98_84-97insTCT	ENSP00000457384.1:n.84-98_84-97insTCT
ENST00000635747.1:c.*446-98_*446-97insTCT	ENSP00000490627.1:n.*446-98_*446-97insTCT
ENST00000636212.1:c.*213-98_*213-97insTCT	ENSP00000489851.1:n.*213-98_*213-97insTCT
ENST00000636314.1:c.239-98_239-97insTCT	ENSP00000490295.1:n.239-98_239-97insTCT
ENST00000636674.1:n.1645-98_1645-97insTCT
ENST00000636964.1:n.2071-98_2071-97insTCT
ENST00000637054.1:c.198+8679_198+8680insTCT	ENSP00000490807.1:n.198+8679_198+8680insTCT
ENST00000637223.1:c.*257-98_*257-97insTCT	ENSP00000490010.1:n.*257-98_*257-97insTCT
ENST00000637329.1:c.512-98_512-97insTCT
ENST00000637450.1:c.*197-98_*197-97insTCT	ENSP00000490204.1:n.*197-98_*197-97insTCT
ENST00000637494.1:c.255-98_255-97insTCT	ENSP00000490057.1:n.255-98_255-97insTCT
ENST00000637667.1:c.444-98_444-97insTCT	ENSP00000489843.1:n.444-98_444-97insTCT
ENST00000637823.1:c.368-98_368-97insTCT
ENST00000637888.1:c.198+8679_198+8680insTCT	ENSP00000490546.1:n.198+8679_198+8680insTCT
ENST00000638076.1:c.*146-98_*146-97insTCT	ENSP00000490373.1:n.*146-98_*146-97insTCT
ENST00000638144.1:n.186-98_186-97insTCT
ENST00000646164.1:c.38+8679_38+8680insTCT
ENST00000249806.9:c.543-98_543-97insTCT	ENSP00000249806.5:n.543-98_543-97insTCT
ENST00000538696.5:c.639-98_639-97insTCT	ENSP00000445770.1:n.639-98_639-97insTCT
ENST00000562767.1:c.84-12229_84-12228insTCT	ENSP00000456336.1:n.84-12229_84-12228insTCT
ENST00000563917.1:n.443-98_443-97insTCT
ENST00000564752.1:c.569-98_569-97insTCT	ENSP00000457822.1:n.569-98_569-97insTCT
ENST00000565471.5:c.84-98_84-97insTCT	ENSP00000457384.1:n.84-98_84-97insTCT
ENST00000566347.5:c.354-98_354-97insTCT	ENSP00000457783.1:n.354-98_354-97insTCT
ENST00000567060.5:c.298-137_298-136insTCT	ENSP00000454818.1:n.298-137_298-136insTCT
NM_017882.2:c.543-98_543-97insTCT	NP_060352.1:n.543-98_543-97insTCT
XR_931861.1:n.765-98_765-97insTCT
NM_017882.3:c.543-98_543-97insTCT MANE Select	NP_060352.1:n.543-98_543-97insTCT