Canonical Allele Identifier: CA2184872963

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211929_68211930delinsTC , CM000677.2:g.68211929_68211930delinsTC	GRCh38
NC_000015.9:g.68504267_68504268delinsTC , CM000677.1:g.68504267_68504268delinsTC	GRCh37
NC_000015.8:g.66291321_66291322delinsTC	NCBI36
NG_008764.2:g.50282_50283delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-67_298-66delinsGA MANE Select	ENSP00000249806.5:n.298-67_298-66delinsGA
ENST00000562767.2:c.84-14302_84-14301delinsGA	ENSP00000456336.1:n.84-14302_84-14301delinsGA
ENST00000563917.2:n.140-67_140-66delinsGA
ENST00000565471.6:c.84-2171_84-2170delinsGA	ENSP00000457384.1:n.84-2171_84-2170delinsGA
ENST00000635747.1:c.*201-67_*201-66delinsGA	ENSP00000490627.1:n.*201-67_*201-66delinsGA
ENST00000636212.1:c.298-189_298-188delinsGA	ENSP00000489851.1:n.298-189_298-188delinsGA
ENST00000636314.1:c.183-612_183-611delinsGA	ENSP00000490295.1:n.183-612_183-611delinsGA
ENST00000636674.1:n.1214_1215delinsGA
ENST00000636964.1:n.1403_1404delinsGA
ENST00000637054.1:c.198+6606_198+6607delinsGA	ENSP00000490807.1:n.198+6606_198+6607delinsGA
ENST00000637223.1:c.*201-612_*201-611delinsGA	ENSP00000490010.1:n.*201-612_*201-611delinsGA
ENST00000637329.1:c.209-9_209-8delinsGA
ENST00000637450.1:c.183-67_183-66delinsGA	ENSP00000490204.1:n.183-67_183-66delinsGA
ENST00000637494.1:c.199-612_199-611delinsGA	ENSP00000490057.1:n.199-612_199-611delinsGA
ENST00000637667.1:c.199-67_199-66delinsGA	ENSP00000489843.1:n.199-67_199-66delinsGA
ENST00000637823.1:c.224-287_224-286delinsGA
ENST00000637888.1:c.198+6606_198+6607delinsGA	ENSP00000490546.1:n.198+6606_198+6607delinsGA
ENST00000638076.1:c.298-67_298-66delinsGA	ENSP00000490373.1:n.298-67_298-66delinsGA
ENST00000638144.1:n.130-612_130-611delinsGA
ENST00000646164.1:c.38+6606_38+6607delinsGA
ENST00000249806.9:c.298-67_298-66delinsGA	ENSP00000249806.5:n.298-67_298-66delinsGA
ENST00000538696.5:c.394-67_394-66delinsGA	ENSP00000445770.1:n.394-67_394-66delinsGA
ENST00000562767.1:c.84-14302_84-14301delinsGA	ENSP00000456336.1:n.84-14302_84-14301delinsGA
ENST00000563917.1:n.79-67_79-66delinsGA
ENST00000564752.1:c.298-67_298-66delinsGA	ENSP00000457822.1:n.298-67_298-66delinsGA
ENST00000565471.5:c.84-2171_84-2170delinsGA	ENSP00000457384.1:n.84-2171_84-2170delinsGA
ENST00000566347.5:c.298-612_298-611delinsGA	ENSP00000457783.1:n.298-612_298-611delinsGA
ENST00000567060.5:c.298-2210_298-2209delinsGA	ENSP00000454818.1:n.298-2210_298-2209delinsGA
NM_017882.2:c.298-67_298-66delinsGA	NP_060352.1:n.298-67_298-66delinsGA
XR_931861.1:n.401-67_401-66delinsGA
NM_017882.3:c.298-67_298-66delinsGA MANE Select	NP_060352.1:n.298-67_298-66delinsGA