Canonical Allele Identifier: CA2184872258

Gene: CLN6

Linked Data

• dbSNP Id: rs1865418837

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211597del , CM000677.2:g.68211597del	GRCh38
NC_000015.9:g.68503935del , CM000677.1:g.68503935del	GRCh37
NC_000015.8:g.66290989del	NCBI36
NG_008764.2:g.50618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+81del MANE Select	ENSP00000249806.5:n.486+81del
ENST00000562767.2:c.84-13966del	ENSP00000456336.1:n.84-13966del
ENST00000563917.2:n.328+81del
ENST00000565471.6:c.84-1835del	ENSP00000457384.1:n.84-1835del
ENST00000635747.1:c.*389+81del	ENSP00000490627.1:n.*389+81del
ENST00000636212.1:c.*118del	ENSP00000489851.1:n.*118del
ENST00000636314.1:c.183-276del	ENSP00000490295.1:n.183-276del
ENST00000636674.1:n.1550del
ENST00000636964.1:n.1739del
ENST00000637054.1:c.198+6942del	ENSP00000490807.1:n.198+6942del
ENST00000637223.1:c.*201-276del	ENSP00000490010.1:n.*201-276del
ENST00000637329.1:c.455+81del
ENST00000637450.1:c.*140+81del	ENSP00000490204.1:n.*140+81del
ENST00000637494.1:c.199-276del	ENSP00000490057.1:n.199-276del
ENST00000637667.1:c.387+81del	ENSP00000489843.1:n.387+81del
ENST00000637823.1:c.273del
ENST00000637888.1:c.198+6942del	ENSP00000490546.1:n.198+6942del
ENST00000638076.1:c.*51del	ENSP00000490373.1:n.*51del
ENST00000638144.1:n.130-276del
ENST00000646164.1:c.38+6942del
ENST00000249806.9:c.486+81del	ENSP00000249806.5:n.486+81del
ENST00000538696.5:c.582+81del	ENSP00000445770.1:n.582+81del
ENST00000562767.1:c.84-13966del	ENSP00000456336.1:n.84-13966del
ENST00000563917.1:n.348del
ENST00000564752.1:c.512+55del	ENSP00000457822.1:n.512+55del
ENST00000565471.5:c.84-1835del	ENSP00000457384.1:n.84-1835del
ENST00000566347.5:c.298-276del	ENSP00000457783.1:n.298-276del
ENST00000567060.5:c.298-1874del	ENSP00000454818.1:n.298-1874del
NM_017882.2:c.486+81del	NP_060352.1:n.486+81del
XR_931861.1:n.670del
NM_017882.3:c.486+81del MANE Select	NP_060352.1:n.486+81del