Canonical Allele Identifier: CA971078681

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2129163
• ClinVar RCV Id: RCV003057940
• dbSNP Id: rs2093194038
• gnomAD v3: 15-68208336-TG-T
• gnomAD v4: 15-68208336-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208337del , CM000677.2:g.68208337del	GRCh38
NC_000015.9:g.68500675del , CM000677.1:g.68500675del	GRCh37
NC_000015.8:g.66287729del	NCBI36
NG_008764.2:g.53875del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.739del MANE Select	ENSP00000249806.5:p.His247ThrfsTer22
ENST00000562767.2:c.84-10709del	ENSP00000456336.1:n.84-10709del
ENST00000565471.6:c.280del	ENSP00000457384.1:p.His94ThrfsTer22
ENST00000635747.1:c.*642del	ENSP00000490627.1:n.*642del
ENST00000636212.1:c.*409del	ENSP00000489851.1:n.*409del
ENST00000636674.1:n.1841del
ENST00000636964.1:n.2267del
ENST00000637054.1:c.198+10199del	ENSP00000490807.1:n.198+10199del
ENST00000637329.1:c.708del
ENST00000637450.1:c.*393del	ENSP00000490204.1:n.*393del
ENST00000637494.1:c.451del	ENSP00000490057.1:p.His151ThrfsTer22
ENST00000637667.1:c.640del	ENSP00000489843.1:p.His214ThrfsTer22
ENST00000637823.1:c.564del
ENST00000637888.1:c.198+10199del	ENSP00000490546.1:n.198+10199del
ENST00000638076.1:c.*342del	ENSP00000490373.1:n.*342del
ENST00000638144.1:n.382del
ENST00000646164.1:c.39-8656del
ENST00000249806.9:c.739del	ENSP00000249806.5:p.His247ThrfsTer22
ENST00000538696.5:c.835del	ENSP00000445770.1:p.His279ThrfsTer22
ENST00000562767.1:c.84-10709del	ENSP00000456336.1:n.84-10709del
ENST00000564752.1:c.*123del	ENSP00000457822.1:n.*123del
ENST00000565471.5:c.280del	ENSP00000457384.1:p.His94ThrfsTer22
ENST00000566347.5:c.550del	ENSP00000457783.1:p.His184ThrfsTer22
ENST00000567060.5:c.*137del	ENSP00000454818.1:n.*137del
NM_017882.2:c.739del	NP_060352.1:p.His247ThrfsTer22
NM_017882.3:c.739del MANE Select	NP_060352.1:p.His247ThrfsTer22