Canonical Allele Identifier: CA2629164043

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208277-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208278del , CM000677.2:g.68208278del	GRCh38
NC_000015.9:g.68500616del , CM000677.1:g.68500616del	GRCh37
NC_000015.8:g.66287670del	NCBI36
NG_008764.2:g.53934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.798del MANE Select	ENSP00000249806.5:p.Phe266LeufsTer3
ENST00000562767.2:c.84-10650del	ENSP00000456336.1:n.84-10650del
ENST00000565471.6:c.339del	ENSP00000457384.1:p.Phe113LeufsTer3
ENST00000635747.1:c.*701del	ENSP00000490627.1:n.*701del
ENST00000636212.1:c.*468del	ENSP00000489851.1:n.*468del
ENST00000636674.1:n.1900del
ENST00000636964.1:n.2326del
ENST00000637054.1:c.198+10258del	ENSP00000490807.1:n.198+10258del
ENST00000637329.1:c.767del
ENST00000637450.1:c.*452del	ENSP00000490204.1:n.*452del
ENST00000637494.1:c.510del	ENSP00000490057.1:p.Phe170LeufsTer3
ENST00000637667.1:c.699del	ENSP00000489843.1:p.Phe233LeufsTer3
ENST00000637823.1:c.623del
ENST00000637888.1:c.198+10258del	ENSP00000490546.1:n.198+10258del
ENST00000638076.1:c.*401del	ENSP00000490373.1:n.*401del
ENST00000638144.1:n.441del
ENST00000646164.1:c.39-8597del
ENST00000249806.9:c.798del	ENSP00000249806.5:p.Phe266LeufsTer3
ENST00000538696.5:c.894del	ENSP00000445770.1:p.Phe298LeufsTer3
ENST00000562767.1:c.84-10650del	ENSP00000456336.1:n.84-10650del
ENST00000565471.5:c.339del	ENSP00000457384.1:p.Phe113LeufsTer3
ENST00000566347.5:c.609del	ENSP00000457783.1:p.Phe203LeufsTer3
ENST00000567060.5:c.*196del	ENSP00000454818.1:n.*196del
NM_017882.2:c.798del	NP_060352.1:p.Phe266LeufsTer3
NM_017882.3:c.798del MANE Select	NP_060352.1:p.Phe266LeufsTer3