Canonical Allele Identifier: CA2629165139

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211932-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211932_68211933insA , CM000677.2:g.68211932_68211933insA	GRCh38
NC_000015.9:g.68504270_68504271insA , CM000677.1:g.68504270_68504271insA	GRCh37
NC_000015.8:g.66291324_66291325insA	NCBI36
NG_008764.2:g.50279_50280insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-70_298-69insT MANE Select	ENSP00000249806.5:n.298-70_298-69insT
ENST00000562767.2:c.84-14305_84-14304insT	ENSP00000456336.1:n.84-14305_84-14304insT
ENST00000563917.2:n.140-70_140-69insT
ENST00000565471.6:c.84-2174_84-2173insT	ENSP00000457384.1:n.84-2174_84-2173insT
ENST00000635747.1:c.*201-70_*201-69insT	ENSP00000490627.1:n.*201-70_*201-69insT
ENST00000636212.1:c.298-192_298-191insT	ENSP00000489851.1:n.298-192_298-191insT
ENST00000636314.1:c.183-615_183-614insT	ENSP00000490295.1:n.183-615_183-614insT
ENST00000636674.1:n.1211_1212insT
ENST00000636964.1:n.1400_1401insT
ENST00000637054.1:c.198+6603_198+6604insT	ENSP00000490807.1:n.198+6603_198+6604insT
ENST00000637223.1:c.*201-615_*201-614insT	ENSP00000490010.1:n.*201-615_*201-614insT
ENST00000637329.1:c.209-12_209-11insT
ENST00000637450.1:c.183-70_183-69insT	ENSP00000490204.1:n.183-70_183-69insT
ENST00000637494.1:c.199-615_199-614insT	ENSP00000490057.1:n.199-615_199-614insT
ENST00000637667.1:c.199-70_199-69insT	ENSP00000489843.1:n.199-70_199-69insT
ENST00000637823.1:c.224-290_224-289insT
ENST00000637888.1:c.198+6603_198+6604insT	ENSP00000490546.1:n.198+6603_198+6604insT
ENST00000638076.1:c.298-70_298-69insT	ENSP00000490373.1:n.298-70_298-69insT
ENST00000638144.1:n.130-615_130-614insT
ENST00000646164.1:c.38+6603_38+6604insT
ENST00000249806.9:c.298-70_298-69insT	ENSP00000249806.5:n.298-70_298-69insT
ENST00000538696.5:c.394-70_394-69insT	ENSP00000445770.1:n.394-70_394-69insT
ENST00000562767.1:c.84-14305_84-14304insT	ENSP00000456336.1:n.84-14305_84-14304insT
ENST00000563917.1:n.79-70_79-69insT
ENST00000564752.1:c.298-70_298-69insT	ENSP00000457822.1:n.298-70_298-69insT
ENST00000565471.5:c.84-2174_84-2173insT	ENSP00000457384.1:n.84-2174_84-2173insT
ENST00000566347.5:c.298-615_298-614insT	ENSP00000457783.1:n.298-615_298-614insT
ENST00000567060.5:c.298-2213_298-2212insT	ENSP00000454818.1:n.298-2213_298-2212insT
NM_017882.2:c.298-70_298-69insT	NP_060352.1:n.298-70_298-69insT
XR_931861.1:n.401-70_401-69insT
NM_017882.3:c.298-70_298-69insT MANE Select	NP_060352.1:n.298-70_298-69insT