Canonical Allele Identifier: CA2573151124

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1577237
• ClinVar RCV Id: RCV002087889
• dbSNP Id: rs2141145190

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218655del , CM000677.2:g.68218655del	GRCh38
NC_000015.9:g.68510993del , CM000677.1:g.68510993del	GRCh37
NC_000015.8:g.66298047del	NCBI36
NG_008764.2:g.43559del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.84-3del MANE Select	ENSP00000249806.5:n.84-3del
ENST00000562767.2:c.83+10849del	ENSP00000456336.1:n.83+10849del
ENST00000563917.2:n.41-4265del
ENST00000565471.6:c.84-8894del	ENSP00000457384.1:n.84-8894del
ENST00000635747.1:c.173-3del	ENSP00000490627.1:n.173-3del
ENST00000636020.1:n.216-3del
ENST00000636212.1:c.84-3del	ENSP00000489851.1:n.84-3del
ENST00000636314.1:c.84-4265del	ENSP00000490295.1:n.84-4265del
ENST00000636876.1:c.*104-3del	ENSP00000489950.1:n.*104-3del
ENST00000637054.1:c.84-3del	ENSP00000490807.1:n.84-3del
ENST00000637223.1:c.173-3del	ENSP00000490010.1:n.173-3del
ENST00000637450.1:c.84-4265del	ENSP00000490204.1:n.84-4265del
ENST00000637494.1:c.84-3del	ENSP00000490057.1:n.84-3del
ENST00000637667.1:c.84-3del	ENSP00000489843.1:n.84-3del
ENST00000637823.1:c.10-3del
ENST00000637888.1:c.84-3del	ENSP00000490546.1:n.84-3del
ENST00000638076.1:c.84-3del	ENSP00000490373.1:n.84-3del
ENST00000638144.1:n.31-4265del
ENST00000249806.9:c.84-3del	ENSP00000249806.5:n.84-3del
ENST00000538696.5:c.180-3del	ENSP00000445770.1:n.180-3del
ENST00000562767.1:c.83+10849del	ENSP00000456336.1:n.83+10849del
ENST00000564752.1:c.84-3del	ENSP00000457822.1:n.84-3del
ENST00000564846.1:n.516-3del
ENST00000565471.5:c.84-8894del	ENSP00000457384.1:n.84-8894del
ENST00000566347.5:c.84-3del	ENSP00000457783.1:n.84-3del
ENST00000567060.5:c.84-3del	ENSP00000454818.1:n.84-3del
ENST00000569336.1:n.170-3del
NM_017882.2:c.84-3del	NP_060352.1:n.84-3del
XR_931861.1:n.187-3del
NM_017882.3:c.84-3del MANE Select	NP_060352.1:n.84-3del