Canonical Allele Identifier: CA618959485

Gene: CLN6

Linked Data

• dbSNP Id: rs1419171803
• gnomAD v2: 15-68503956-T-TC
• gnomAD v4: 15-68211618-T-TC
• MyVariant Identifiers: chr15:g.68503956_68503957insC (hg19) ; chr15:g.68211618_68211619insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211621dup , CM000677.2:g.68211621dup	GRCh38
NC_000015.9:g.68503959dup , CM000677.1:g.68503959dup	GRCh37
NC_000015.8:g.66291013dup	NCBI36
NG_008764.2:g.50593dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.486+56dup MANE Select	ENSP00000249806.5:n.486+56dup
ENST00000562767.2:c.84-13991dup	ENSP00000456336.1:n.84-13991dup
ENST00000563917.2:n.328+56dup
ENST00000565471.6:c.84-1860dup	ENSP00000457384.1:n.84-1860dup
ENST00000635747.1:c.*389+56dup	ENSP00000490627.1:n.*389+56dup
ENST00000636212.1:c.*93dup	ENSP00000489851.1:n.*93dup
ENST00000636314.1:c.183-301dup	ENSP00000490295.1:n.183-301dup
ENST00000636674.1:n.1525dup
ENST00000636964.1:n.1714dup
ENST00000637054.1:c.198+6917dup	ENSP00000490807.1:n.198+6917dup
ENST00000637223.1:c.*201-301dup	ENSP00000490010.1:n.*201-301dup
ENST00000637329.1:c.455+56dup
ENST00000637450.1:c.*140+56dup	ENSP00000490204.1:n.*140+56dup
ENST00000637494.1:c.199-301dup	ENSP00000490057.1:n.199-301dup
ENST00000637667.1:c.387+56dup	ENSP00000489843.1:n.387+56dup
ENST00000637823.1:c.248dup
ENST00000637888.1:c.198+6917dup	ENSP00000490546.1:n.198+6917dup
ENST00000638076.1:c.*26dup	ENSP00000490373.1:n.*26dup
ENST00000638144.1:n.130-301dup
ENST00000646164.1:c.38+6917dup
ENST00000249806.9:c.486+56dup	ENSP00000249806.5:n.486+56dup
ENST00000538696.5:c.582+56dup	ENSP00000445770.1:n.582+56dup
ENST00000562767.1:c.84-13991dup	ENSP00000456336.1:n.84-13991dup
ENST00000563917.1:n.323dup
ENST00000564752.1:c.512+30dup	ENSP00000457822.1:n.512+30dup
ENST00000565471.5:c.84-1860dup	ENSP00000457384.1:n.84-1860dup
ENST00000566347.5:c.298-301dup	ENSP00000457783.1:n.298-301dup
ENST00000567060.5:c.298-1899dup	ENSP00000454818.1:n.298-1899dup
NM_017882.2:c.486+56dup	NP_060352.1:n.486+56dup
XR_931861.1:n.645dup
NM_017882.3:c.486+56dup MANE Select	NP_060352.1:n.486+56dup