Canonical Allele Identifier: CA2804592582

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209877_68209878insAGAT , CM000677.2:g.68209877_68209878insAGAT	GRCh38
NC_000015.9:g.68502215_68502216insAGAT , CM000677.1:g.68502215_68502216insAGAT	GRCh37
NC_000015.8:g.66289269_66289270insAGAT	NCBI36
NG_008764.2:g.52334_52335insATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-119_543-118insATCT MANE Select	ENSP00000249806.5:n.543-119_543-118insATCT
ENST00000562767.2:c.84-12250_84-12249insATCT	ENSP00000456336.1:n.84-12250_84-12249insATCT
ENST00000563917.2:n.385-119_385-118insATCT
ENST00000565471.6:c.84-119_84-118insATCT	ENSP00000457384.1:n.84-119_84-118insATCT
ENST00000635747.1:c.*446-119_*446-118insATCT	ENSP00000490627.1:n.*446-119_*446-118insATCT
ENST00000636212.1:c.*213-119_*213-118insATCT	ENSP00000489851.1:n.*213-119_*213-118insATCT
ENST00000636314.1:c.239-119_239-118insATCT	ENSP00000490295.1:n.239-119_239-118insATCT
ENST00000636674.1:n.1645-119_1645-118insATCT
ENST00000636964.1:n.2071-119_2071-118insATCT
ENST00000637054.1:c.198+8658_198+8659insATCT	ENSP00000490807.1:n.198+8658_198+8659insATCT
ENST00000637223.1:c.*257-119_*257-118insATCT	ENSP00000490010.1:n.*257-119_*257-118insATCT
ENST00000637329.1:c.512-119_512-118insATCT
ENST00000637450.1:c.*197-119_*197-118insATCT	ENSP00000490204.1:n.*197-119_*197-118insATCT
ENST00000637494.1:c.255-119_255-118insATCT	ENSP00000490057.1:n.255-119_255-118insATCT
ENST00000637667.1:c.444-119_444-118insATCT	ENSP00000489843.1:n.444-119_444-118insATCT
ENST00000637823.1:c.368-119_368-118insATCT
ENST00000637888.1:c.198+8658_198+8659insATCT	ENSP00000490546.1:n.198+8658_198+8659insATCT
ENST00000638076.1:c.*146-119_*146-118insATCT	ENSP00000490373.1:n.*146-119_*146-118insATCT
ENST00000638144.1:n.186-119_186-118insATCT
ENST00000646164.1:c.38+8658_38+8659insATCT
ENST00000249806.9:c.543-119_543-118insATCT	ENSP00000249806.5:n.543-119_543-118insATCT
ENST00000538696.5:c.639-119_639-118insATCT	ENSP00000445770.1:n.639-119_639-118insATCT
ENST00000562767.1:c.84-12250_84-12249insATCT	ENSP00000456336.1:n.84-12250_84-12249insATCT
ENST00000563917.1:n.443-119_443-118insATCT
ENST00000564752.1:c.569-119_569-118insATCT	ENSP00000457822.1:n.569-119_569-118insATCT
ENST00000565471.5:c.84-119_84-118insATCT	ENSP00000457384.1:n.84-119_84-118insATCT
ENST00000566347.5:c.354-119_354-118insATCT	ENSP00000457783.1:n.354-119_354-118insATCT
ENST00000567060.5:c.298-158_298-157insATCT	ENSP00000454818.1:n.298-158_298-157insATCT
NM_017882.2:c.543-119_543-118insATCT	NP_060352.1:n.543-119_543-118insATCT
XR_931861.1:n.765-119_765-118insATCT
NM_017882.3:c.543-119_543-118insATCT MANE Select	NP_060352.1:n.543-119_543-118insATCT