Canonical Allele Identifier: CA2804591354

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211998_68211999insAG , CM000677.2:g.68211998_68211999insAG	GRCh38
NC_000015.9:g.68504336_68504337insAG , CM000677.1:g.68504336_68504337insAG	GRCh37
NC_000015.8:g.66291390_66291391insAG	NCBI36
NG_008764.2:g.50213_50214insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-136_298-135insCT MANE Select	ENSP00000249806.5:n.298-136_298-135insCT
ENST00000562767.2:c.84-14371_84-14370insCT	ENSP00000456336.1:n.84-14371_84-14370insCT
ENST00000563917.2:n.140-136_140-135insCT
ENST00000565471.6:c.84-2240_84-2239insCT	ENSP00000457384.1:n.84-2240_84-2239insCT
ENST00000635747.1:c.*201-136_*201-135insCT	ENSP00000490627.1:n.*201-136_*201-135insCT
ENST00000636212.1:c.298-258_298-257insCT	ENSP00000489851.1:n.298-258_298-257insCT
ENST00000636314.1:c.183-681_183-680insCT	ENSP00000490295.1:n.183-681_183-680insCT
ENST00000636674.1:n.1145_1146insCT
ENST00000636964.1:n.1334_1335insCT
ENST00000637054.1:c.198+6537_198+6538insCT	ENSP00000490807.1:n.198+6537_198+6538insCT
ENST00000637223.1:c.*201-681_*201-680insCT	ENSP00000490010.1:n.*201-681_*201-680insCT
ENST00000637329.1:c.209-78_209-77insCT
ENST00000637450.1:c.183-136_183-135insCT	ENSP00000490204.1:n.183-136_183-135insCT
ENST00000637494.1:c.199-681_199-680insCT	ENSP00000490057.1:n.199-681_199-680insCT
ENST00000637667.1:c.199-136_199-135insCT	ENSP00000489843.1:n.199-136_199-135insCT
ENST00000637823.1:c.224-356_224-355insCT
ENST00000637888.1:c.198+6537_198+6538insCT	ENSP00000490546.1:n.198+6537_198+6538insCT
ENST00000638076.1:c.298-136_298-135insCT	ENSP00000490373.1:n.298-136_298-135insCT
ENST00000638144.1:n.130-681_130-680insCT
ENST00000646164.1:c.38+6537_38+6538insCT
ENST00000249806.9:c.298-136_298-135insCT	ENSP00000249806.5:n.298-136_298-135insCT
ENST00000538696.5:c.394-136_394-135insCT	ENSP00000445770.1:n.394-136_394-135insCT
ENST00000562767.1:c.84-14371_84-14370insCT	ENSP00000456336.1:n.84-14371_84-14370insCT
ENST00000563917.1:n.79-136_79-135insCT
ENST00000564752.1:c.298-136_298-135insCT	ENSP00000457822.1:n.298-136_298-135insCT
ENST00000565471.5:c.84-2240_84-2239insCT	ENSP00000457384.1:n.84-2240_84-2239insCT
ENST00000566347.5:c.298-681_298-680insCT	ENSP00000457783.1:n.298-681_298-680insCT
ENST00000567060.5:c.298-2279_298-2278insCT	ENSP00000454818.1:n.298-2279_298-2278insCT
NM_017882.2:c.298-136_298-135insCT	NP_060352.1:n.298-136_298-135insCT
XR_931861.1:n.401-136_401-135insCT
NM_017882.3:c.298-136_298-135insCT MANE Select	NP_060352.1:n.298-136_298-135insCT