Canonical Allele Identifier: CA2739269529

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2830675
• ClinVar RCV Id: RCV003648342

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218556dup , CM000677.2:g.68218556dup	GRCh38
NC_000015.9:g.68510894dup , CM000677.1:g.68510894dup	GRCh37
NC_000015.8:g.66297948dup	NCBI36
NG_008764.2:g.43658dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.180dup MANE Select	ENSP00000249806.5:p.Gly61TrpfsTer?
ENST00000562767.2:c.83+10948dup	ENSP00000456336.1:n.83+10948dup
ENST00000563917.2:n.41-4166dup
ENST00000565471.6:c.84-8795dup	ENSP00000457384.1:n.84-8795dup
ENST00000569336.2:n.89dup
ENST00000635747.1:c.*83dup	ENSP00000490627.1:n.*83dup
ENST00000636020.1:n.312dup
ENST00000636212.1:c.180dup	ENSP00000489851.1:p.Gly61TrpfsTer?
ENST00000636314.1:c.84-4166dup	ENSP00000490295.1:n.84-4166dup
ENST00000637054.1:c.180dup	ENSP00000490807.1:p.Gly61TrpfsTer?
ENST00000637223.1:c.*83dup	ENSP00000490010.1:n.*83dup
ENST00000637329.1:c.91dup
ENST00000637450.1:c.84-4166dup	ENSP00000490204.1:n.84-4166dup
ENST00000637494.1:c.180dup	ENSP00000490057.1:p.Gly61TrpfsTer11
ENST00000637667.1:c.180dup	ENSP00000489843.1:p.Gly61TrpfsTer?
ENST00000637823.1:c.106dup
ENST00000637888.1:c.180dup	ENSP00000490546.1:p.Gly61TrpfsTer?
ENST00000638076.1:c.180dup	ENSP00000490373.1:p.Gly61TrpfsTer?
ENST00000638144.1:n.31-4166dup
ENST00000646164.1:c.20dup
ENST00000249806.9:c.180dup	ENSP00000249806.5:p.Gly61TrpfsTer?
ENST00000538696.5:c.276dup	ENSP00000445770.1:p.Gly93TrpfsTer?
ENST00000562767.1:c.83+10948dup	ENSP00000456336.1:n.83+10948dup
ENST00000564752.1:c.180dup	ENSP00000457822.1:p.Gly61TrpfsTer?
ENST00000564846.1:n.612dup
ENST00000565471.5:c.84-8795dup	ENSP00000457384.1:n.84-8795dup
ENST00000566347.5:c.180dup	ENSP00000457783.1:p.Gly61TrpfsTer?
ENST00000567060.5:c.180dup	ENSP00000454818.1:p.Gly61TrpfsTer?
ENST00000569336.1:n.266dup
NM_017882.2:c.180dup	NP_060352.1:p.Gly61TrpfsTer?
XR_931861.1:n.283dup
NM_017882.3:c.180dup MANE Select	NP_060352.1:p.Gly61TrpfsTer?