Canonical Allele Identifier: CA2629165114

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211899-C-CGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211899_68211900insGTGG , CM000677.2:g.68211899_68211900insGTGG	GRCh38
NC_000015.9:g.68504237_68504238insGTGG , CM000677.1:g.68504237_68504238insGTGG	GRCh37
NC_000015.8:g.66291291_66291292insGTGG	NCBI36
NG_008764.2:g.50312_50313insCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-37_298-36insCCAC MANE Select	ENSP00000249806.5:n.298-37_298-36insCCAC
ENST00000562767.2:c.84-14272_84-14271insCCAC	ENSP00000456336.1:n.84-14272_84-14271insCCAC
ENST00000563917.2:n.140-37_140-36insCCAC
ENST00000565471.6:c.84-2141_84-2140insCCAC	ENSP00000457384.1:n.84-2141_84-2140insCCAC
ENST00000635747.1:c.*201-37_*201-36insCCAC	ENSP00000490627.1:n.*201-37_*201-36insCCAC
ENST00000636212.1:c.298-159_298-158insCCAC	ENSP00000489851.1:n.298-159_298-158insCCAC
ENST00000636314.1:c.183-582_183-581insCCAC	ENSP00000490295.1:n.183-582_183-581insCCAC
ENST00000636674.1:n.1244_1245insCCAC
ENST00000636964.1:n.1433_1434insCCAC
ENST00000637054.1:c.198+6636_198+6637insCCAC	ENSP00000490807.1:n.198+6636_198+6637insCCAC
ENST00000637223.1:c.*201-582_*201-581insCCAC	ENSP00000490010.1:n.*201-582_*201-581insCCAC
ENST00000637329.1:c.230_231insCCAC
ENST00000637450.1:c.183-37_183-36insCCAC	ENSP00000490204.1:n.183-37_183-36insCCAC
ENST00000637494.1:c.199-582_199-581insCCAC	ENSP00000490057.1:n.199-582_199-581insCCAC
ENST00000637667.1:c.199-37_199-36insCCAC	ENSP00000489843.1:n.199-37_199-36insCCAC
ENST00000637823.1:c.224-257_224-256insCCAC
ENST00000637888.1:c.198+6636_198+6637insCCAC	ENSP00000490546.1:n.198+6636_198+6637insCCAC
ENST00000638076.1:c.298-37_298-36insCCAC	ENSP00000490373.1:n.298-37_298-36insCCAC
ENST00000638144.1:n.130-582_130-581insCCAC
ENST00000646164.1:c.38+6636_38+6637insCCAC
ENST00000249806.9:c.298-37_298-36insCCAC	ENSP00000249806.5:n.298-37_298-36insCCAC
ENST00000538696.5:c.394-37_394-36insCCAC	ENSP00000445770.1:n.394-37_394-36insCCAC
ENST00000562767.1:c.84-14272_84-14271insCCAC	ENSP00000456336.1:n.84-14272_84-14271insCCAC
ENST00000563917.1:n.79-37_79-36insCCAC
ENST00000564752.1:c.298-37_298-36insCCAC	ENSP00000457822.1:n.298-37_298-36insCCAC
ENST00000565471.5:c.84-2141_84-2140insCCAC	ENSP00000457384.1:n.84-2141_84-2140insCCAC
ENST00000566347.5:c.298-582_298-581insCCAC	ENSP00000457783.1:n.298-582_298-581insCCAC
ENST00000567060.5:c.298-2180_298-2179insCCAC	ENSP00000454818.1:n.298-2180_298-2179insCCAC
NM_017882.2:c.298-37_298-36insCCAC	NP_060352.1:n.298-37_298-36insCCAC
XR_931861.1:n.401-37_401-36insCCAC
NM_017882.3:c.298-37_298-36insCCAC MANE Select	NP_060352.1:n.298-37_298-36insCCAC