Canonical Allele Identifier: CA2580089998

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2123051
• ClinVar RCV Id: RCV003047171

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208162del , CM000677.2:g.68208162del	GRCh38
NC_000015.9:g.68500500del , CM000677.1:g.68500500del	GRCh37
NC_000015.8:g.66287554del	NCBI36
NG_008764.2:g.54051del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.915del MANE Select	ENSP00000249806.5:p.His306ThrfsTer?
ENST00000562767.2:c.84-10533del	ENSP00000456336.1:n.84-10533del
ENST00000565471.6:c.456del	ENSP00000457384.1:p.His153ThrfsTer?
ENST00000635747.1:c.*818del	ENSP00000490627.1:n.*818del
ENST00000636212.1:c.*585del	ENSP00000489851.1:n.*585del
ENST00000636964.1:n.2443del
ENST00000637054.1:c.198+10375del	ENSP00000490807.1:n.198+10375del
ENST00000637329.1:c.884del
ENST00000637494.1:c.627del	ENSP00000490057.1:p.His210ThrfsTer?
ENST00000637888.1:c.198+10375del	ENSP00000490546.1:n.198+10375del
ENST00000638076.1:c.*518del	ENSP00000490373.1:n.*518del
ENST00000638144.1:n.558del
ENST00000646164.1:c.39-8480del
ENST00000249806.9:c.915del	ENSP00000249806.5:p.His306ThrfsTer?
ENST00000538696.5:c.1011del	ENSP00000445770.1:p.His338ThrfsTer?
ENST00000562767.1:c.84-10533del	ENSP00000456336.1:n.84-10533del
ENST00000565471.5:c.456del	ENSP00000457384.1:p.His153ThrfsTer?
ENST00000566347.5:c.726del	ENSP00000457783.1:p.His243ThrfsTer?
ENST00000567060.5:c.*313del	ENSP00000454818.1:n.*313del
NM_017882.2:c.915del	NP_060352.1:p.His306ThrfsTer?
NM_017882.3:c.915del MANE Select	NP_060352.1:p.His306ThrfsTer?