Canonical Allele Identifier: CA2580089916

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2101649
• ClinVar RCV Id: RCV003026180

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218553_68218554del , CM000677.2:g.68218553_68218554del	GRCh38
NC_000015.9:g.68510891_68510892del , CM000677.1:g.68510891_68510892del	GRCh37
NC_000015.8:g.66297945_66297946del	NCBI36
NG_008764.2:g.43658_43659del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.180_181del MANE Select	ENSP00000249806.5:p.Phe60LeufsTer?
ENST00000562767.2:c.83+10948_83+10949del	ENSP00000456336.1:n.83+10948_83+10949del
ENST00000563917.2:n.41-4166_41-4165del
ENST00000565471.6:c.84-8795_84-8794del	ENSP00000457384.1:n.84-8795_84-8794del
ENST00000569336.2:n.89_90del
ENST00000635747.1:c.*83_*84del	ENSP00000490627.1:n.*83_*84del
ENST00000636020.1:n.312_313del
ENST00000636212.1:c.180_181del	ENSP00000489851.1:p.Phe60LeufsTer?
ENST00000636314.1:c.84-4166_84-4165del	ENSP00000490295.1:n.84-4166_84-4165del
ENST00000637054.1:c.180_181del	ENSP00000490807.1:p.Phe60LeufsTer?
ENST00000637223.1:c.*83_*84del	ENSP00000490010.1:n.*83_*84del
ENST00000637329.1:c.91_92del
ENST00000637450.1:c.84-4166_84-4165del	ENSP00000490204.1:n.84-4166_84-4165del
ENST00000637494.1:c.180_181del	ENSP00000490057.1:p.Phe60LeufsTer11
ENST00000637667.1:c.180_181del	ENSP00000489843.1:p.Phe60LeufsTer?
ENST00000637823.1:c.106_107del
ENST00000637888.1:c.180_181del	ENSP00000490546.1:p.Phe60LeufsTer?
ENST00000638076.1:c.180_181del	ENSP00000490373.1:p.Phe60LeufsTer?
ENST00000638144.1:n.31-4166_31-4165del
ENST00000646164.1:c.20_21del
ENST00000249806.9:c.180_181del	ENSP00000249806.5:p.Phe60LeufsTer?
ENST00000538696.5:c.276_277del	ENSP00000445770.1:p.Phe92LeufsTer?
ENST00000562767.1:c.83+10948_83+10949del	ENSP00000456336.1:n.83+10948_83+10949del
ENST00000564752.1:c.180_181del	ENSP00000457822.1:p.Phe60LeufsTer?
ENST00000564846.1:n.612_613del
ENST00000565471.5:c.84-8795_84-8794del	ENSP00000457384.1:n.84-8795_84-8794del
ENST00000566347.5:c.180_181del	ENSP00000457783.1:p.Phe60LeufsTer?
ENST00000567060.5:c.180_181del	ENSP00000454818.1:p.Phe60LeufsTer?
ENST00000569336.1:n.266_267del
NM_017882.2:c.180_181del	NP_060352.1:p.Phe60LeufsTer?
XR_931861.1:n.283_284del
NM_017882.3:c.180_181del MANE Select	NP_060352.1:p.Phe60LeufsTer?