Canonical Allele Identifier: CA2629164969

Gene: CLN6

Linked Data

• gnomAD v4: 15-68229588-T-TGCCCCGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68229594_68229602dup , CM000677.2:g.68229594_68229602dup	GRCh38
NC_000015.9:g.68521932_68521940dup , CM000677.1:g.68521932_68521940dup	GRCh37
NC_000015.8:g.66308986_66308994dup	NCBI36
NG_008764.2:g.32615_32623dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.-13_-5dup MANE Select	ENSP00000249806.5:n.-13_-5dup
ENST00000562767.2:c.-13_-5dup	ENSP00000456336.1:n.-13_-5dup
ENST00000563917.2:n.41-15209_41-15201dup
ENST00000565471.6:c.-13_-5dup	ENSP00000457384.1:n.-13_-5dup
ENST00000635747.1:c.173-10947_173-10939dup	ENSP00000490627.1:n.173-10947_173-10939du...
ENST00000636020.1:n.120_128dup
ENST00000636212.1:c.-13_-5dup	ENSP00000489851.1:n.-13_-5dup
ENST00000636314.1:c.-13_-5dup	ENSP00000490295.1:n.-13_-5dup
ENST00000636876.1:c.*104-10947_*104-10939dup	ENSP00000489950.1:n.*104-10947_*104-10939...
ENST00000637054.1:c.-13_-5dup	ENSP00000490807.1:n.-13_-5dup
ENST00000637223.1:c.173-10947_173-10939dup	ENSP00000490010.1:n.173-10947_173-10939du...
ENST00000637450.1:c.-13_-5dup	ENSP00000490204.1:n.-13_-5dup
ENST00000637494.1:c.-13_-5dup	ENSP00000490057.1:n.-13_-5dup
ENST00000637667.1:c.-13_-5dup	ENSP00000489843.1:n.-13_-5dup
ENST00000637888.1:c.-13_-5dup	ENSP00000490546.1:n.-13_-5dup
ENST00000638076.1:c.-13_-5dup	ENSP00000490373.1:n.-13_-5dup
ENST00000638144.1:n.31-15209_31-15201dup
ENST00000249806.9:c.-13_-5dup	ENSP00000249806.5:n.-13_-5dup
ENST00000538696.5:c.180-10947_180-10939dup	ENSP00000445770.1:n.180-10947_180-10939du...
ENST00000562767.1:c.-13_-5dup	ENSP00000456336.1:n.-13_-5dup
ENST00000564752.1:c.-13_-5dup	ENSP00000457822.1:n.-13_-5dup
ENST00000564846.1:n.516-10947_516-10939dup
ENST00000565471.5:c.-13_-5dup	ENSP00000457384.1:n.-13_-5dup
ENST00000566347.5:c.-13_-5dup	ENSP00000457783.1:n.-13_-5dup
ENST00000567060.5:c.-13_-5dup	ENSP00000454818.1:n.-13_-5dup
ENST00000569336.1:n.74_82dup
NM_017882.2:c.-13_-5dup	NP_060352.1:n.-13_-5dup
XR_931861.1:n.91_99dup
NM_017882.3:c.-13_-5dup MANE Select	NP_060352.1:n.-13_-5dup