Canonical Allele Identifier: CA2804591321

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211971_68211972insGT , CM000677.2:g.68211971_68211972insGT	GRCh38
NC_000015.9:g.68504309_68504310insGT , CM000677.1:g.68504309_68504310insGT	GRCh37
NC_000015.8:g.66291363_66291364insGT	NCBI36
NG_008764.2:g.50240_50241insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-109_298-108insAC MANE Select	ENSP00000249806.5:n.298-109_298-108insAC
ENST00000562767.2:c.84-14344_84-14343insAC	ENSP00000456336.1:n.84-14344_84-14343insAC
ENST00000563917.2:n.140-109_140-108insAC
ENST00000565471.6:c.84-2213_84-2212insAC	ENSP00000457384.1:n.84-2213_84-2212insAC
ENST00000635747.1:c.*201-109_*201-108insAC	ENSP00000490627.1:n.*201-109_*201-108insAC
ENST00000636212.1:c.298-231_298-230insAC	ENSP00000489851.1:n.298-231_298-230insAC
ENST00000636314.1:c.183-654_183-653insAC	ENSP00000490295.1:n.183-654_183-653insAC
ENST00000636674.1:n.1172_1173insAC
ENST00000636964.1:n.1361_1362insAC
ENST00000637054.1:c.198+6564_198+6565insAC	ENSP00000490807.1:n.198+6564_198+6565insAC
ENST00000637223.1:c.*201-654_*201-653insAC	ENSP00000490010.1:n.*201-654_*201-653insAC
ENST00000637329.1:c.209-51_209-50insAC
ENST00000637450.1:c.183-109_183-108insAC	ENSP00000490204.1:n.183-109_183-108insAC
ENST00000637494.1:c.199-654_199-653insAC	ENSP00000490057.1:n.199-654_199-653insAC
ENST00000637667.1:c.199-109_199-108insAC	ENSP00000489843.1:n.199-109_199-108insAC
ENST00000637823.1:c.224-329_224-328insAC
ENST00000637888.1:c.198+6564_198+6565insAC	ENSP00000490546.1:n.198+6564_198+6565insAC
ENST00000638076.1:c.298-109_298-108insAC	ENSP00000490373.1:n.298-109_298-108insAC
ENST00000638144.1:n.130-654_130-653insAC
ENST00000646164.1:c.38+6564_38+6565insAC
ENST00000249806.9:c.298-109_298-108insAC	ENSP00000249806.5:n.298-109_298-108insAC
ENST00000538696.5:c.394-109_394-108insAC	ENSP00000445770.1:n.394-109_394-108insAC
ENST00000562767.1:c.84-14344_84-14343insAC	ENSP00000456336.1:n.84-14344_84-14343insAC
ENST00000563917.1:n.79-109_79-108insAC
ENST00000564752.1:c.298-109_298-108insAC	ENSP00000457822.1:n.298-109_298-108insAC
ENST00000565471.5:c.84-2213_84-2212insAC	ENSP00000457384.1:n.84-2213_84-2212insAC
ENST00000566347.5:c.298-654_298-653insAC	ENSP00000457783.1:n.298-654_298-653insAC
ENST00000567060.5:c.298-2252_298-2251insAC	ENSP00000454818.1:n.298-2252_298-2251insAC
NM_017882.2:c.298-109_298-108insAC	NP_060352.1:n.298-109_298-108insAC
XR_931861.1:n.401-109_401-108insAC
NM_017882.3:c.298-109_298-108insAC MANE Select	NP_060352.1:n.298-109_298-108insAC