Canonical Allele Identifier: CA2184879598

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1068527
• ClinVar RCV Id: RCV001380128
• dbSNP Id: rs2093199030

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209708_68209721del , CM000677.2:g.68209708_68209721del	GRCh38
NC_000015.9:g.68502046_68502059del , CM000677.1:g.68502046_68502059del	GRCh37
NC_000015.8:g.66289100_66289113del	NCBI36
NG_008764.2:g.52493_52506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.583_596del MANE Select	ENSP00000249806.5:p.Gly195LeufsTer2
ENST00000562767.2:c.84-12091_84-12078del	ENSP00000456336.1:n.84-12091_84-12078del
ENST00000563917.2:n.425_438del
ENST00000565471.6:c.124_137del	ENSP00000457384.1:p.Gly42LeufsTer2
ENST00000635747.1:c.*486_*499del	ENSP00000490627.1:n.*486_*499del
ENST00000636212.1:c.*253_*266del	ENSP00000489851.1:n.*253_*266del
ENST00000636314.1:c.279_292del	ENSP00000490295.1:p.Ala94SerfsTer?
ENST00000636674.1:n.1685_1698del
ENST00000636964.1:n.2111_2124del
ENST00000637054.1:c.198+8817_198+8830del	ENSP00000490807.1:n.198+8817_198+8830del
ENST00000637223.1:c.*297_*310del	ENSP00000490010.1:n.*297_*310del
ENST00000637329.1:c.552_565del
ENST00000637450.1:c.*237_*250del	ENSP00000490204.1:n.*237_*250del
ENST00000637494.1:c.295_308del	ENSP00000490057.1:p.Gly99LeufsTer2
ENST00000637667.1:c.484_497del	ENSP00000489843.1:p.Gly162LeufsTer2
ENST00000637823.1:c.408_421del
ENST00000637888.1:c.198+8817_198+8830del	ENSP00000490546.1:n.198+8817_198+8830del
ENST00000638076.1:c.*186_*199del	ENSP00000490373.1:n.*186_*199del
ENST00000638144.1:n.226_239del
ENST00000646164.1:c.38+8817_38+8830del
ENST00000249806.9:c.583_596del	ENSP00000249806.5:p.Gly195LeufsTer2
ENST00000538696.5:c.679_692del	ENSP00000445770.1:p.Gly227LeufsTer2
ENST00000562767.1:c.84-12091_84-12078del	ENSP00000456336.1:n.84-12091_84-12078del
ENST00000563917.1:n.483_496del
ENST00000564752.1:c.609_622del	ENSP00000457822.1:p.Ala204SerfsTer?
ENST00000565471.5:c.124_137del	ENSP00000457384.1:p.Gly42LeufsTer2
ENST00000566347.5:c.394_407del	ENSP00000457783.1:p.Gly132LeufsTer2
ENST00000567060.5:c.299_312del
NM_017882.2:c.583_596del	NP_060352.1:p.Gly195LeufsTer2
XR_931861.1:n.805_818del
NM_017882.3:c.583_596del MANE Select	NP_060352.1:p.Gly195LeufsTer2