Canonical Allele Identifier: CA2804591357

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211999_68212000insAG , CM000677.2:g.68211999_68212000insAG	GRCh38
NC_000015.9:g.68504337_68504338insAG , CM000677.1:g.68504337_68504338insAG	GRCh37
NC_000015.8:g.66291391_66291392insAG	NCBI36
NG_008764.2:g.50212_50213insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-137_298-136insCT MANE Select	ENSP00000249806.5:n.298-137_298-136insCT
ENST00000562767.2:c.84-14372_84-14371insCT	ENSP00000456336.1:n.84-14372_84-14371insCT
ENST00000563917.2:n.140-137_140-136insCT
ENST00000565471.6:c.84-2241_84-2240insCT	ENSP00000457384.1:n.84-2241_84-2240insCT
ENST00000635747.1:c.*201-137_*201-136insCT	ENSP00000490627.1:n.*201-137_*201-136insCT
ENST00000636212.1:c.298-259_298-258insCT	ENSP00000489851.1:n.298-259_298-258insCT
ENST00000636314.1:c.183-682_183-681insCT	ENSP00000490295.1:n.183-682_183-681insCT
ENST00000636674.1:n.1144_1145insCT
ENST00000636964.1:n.1333_1334insCT
ENST00000637054.1:c.198+6536_198+6537insCT	ENSP00000490807.1:n.198+6536_198+6537insCT
ENST00000637223.1:c.*201-682_*201-681insCT	ENSP00000490010.1:n.*201-682_*201-681insCT
ENST00000637329.1:c.209-79_209-78insCT
ENST00000637450.1:c.183-137_183-136insCT	ENSP00000490204.1:n.183-137_183-136insCT
ENST00000637494.1:c.199-682_199-681insCT	ENSP00000490057.1:n.199-682_199-681insCT
ENST00000637667.1:c.199-137_199-136insCT	ENSP00000489843.1:n.199-137_199-136insCT
ENST00000637823.1:c.224-357_224-356insCT
ENST00000637888.1:c.198+6536_198+6537insCT	ENSP00000490546.1:n.198+6536_198+6537insCT
ENST00000638076.1:c.298-137_298-136insCT	ENSP00000490373.1:n.298-137_298-136insCT
ENST00000638144.1:n.130-682_130-681insCT
ENST00000646164.1:c.38+6536_38+6537insCT
ENST00000249806.9:c.298-137_298-136insCT	ENSP00000249806.5:n.298-137_298-136insCT
ENST00000538696.5:c.394-137_394-136insCT	ENSP00000445770.1:n.394-137_394-136insCT
ENST00000562767.1:c.84-14372_84-14371insCT	ENSP00000456336.1:n.84-14372_84-14371insCT
ENST00000563917.1:n.79-137_79-136insCT
ENST00000564752.1:c.298-137_298-136insCT	ENSP00000457822.1:n.298-137_298-136insCT
ENST00000565471.5:c.84-2241_84-2240insCT	ENSP00000457384.1:n.84-2241_84-2240insCT
ENST00000566347.5:c.298-682_298-681insCT	ENSP00000457783.1:n.298-682_298-681insCT
ENST00000567060.5:c.298-2280_298-2279insCT	ENSP00000454818.1:n.298-2280_298-2279insCT
NM_017882.2:c.298-137_298-136insCT	NP_060352.1:n.298-137_298-136insCT
XR_931861.1:n.401-137_401-136insCT
NM_017882.3:c.298-137_298-136insCT MANE Select	NP_060352.1:n.298-137_298-136insCT