Canonical Allele Identifier: CA645576190

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211844-CG-C
• COSMIC: COSM5054441

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211850del , CM000677.2:g.68211850del	GRCh38
NC_000015.9:g.68504188del , CM000677.1:g.68504188del	GRCh37
NC_000015.8:g.66291242del	NCBI36
NG_008764.2:g.50367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.316del MANE Select	ENSP00000249806.5:p.Arg106AlafsTer10
ENST00000562767.2:c.84-14217del	ENSP00000456336.1:n.84-14217del
ENST00000563917.2:n.158del
ENST00000565471.6:c.84-2086del	ENSP00000457384.1:n.84-2086del
ENST00000635747.1:c.*219del	ENSP00000490627.1:n.*219del
ENST00000636212.1:c.298-104del	ENSP00000489851.1:n.298-104del
ENST00000636314.1:c.183-527del	ENSP00000490295.1:n.183-527del
ENST00000636674.1:n.1299del
ENST00000636964.1:n.1488del
ENST00000637054.1:c.198+6691del	ENSP00000490807.1:n.198+6691del
ENST00000637223.1:c.*201-527del	ENSP00000490010.1:n.*201-527del
ENST00000637329.1:c.285del
ENST00000637450.1:c.201del	ENSP00000490204.1:p.Ala68HisfsTer25
ENST00000637494.1:c.199-527del	ENSP00000490057.1:n.199-527del
ENST00000637667.1:c.217del	ENSP00000489843.1:p.Arg73AlafsTer10
ENST00000637823.1:c.224-202del
ENST00000637888.1:c.198+6691del	ENSP00000490546.1:n.198+6691del
ENST00000638076.1:c.316del	ENSP00000490373.1:p.Arg106AlafsTer10
ENST00000638144.1:n.130-527del
ENST00000646164.1:c.38+6691del
ENST00000249806.9:c.316del	ENSP00000249806.5:p.Arg106AlafsTer10
ENST00000538696.5:c.412del	ENSP00000445770.1:p.Arg138AlafsTer10
ENST00000562767.1:c.84-14217del	ENSP00000456336.1:n.84-14217del
ENST00000563917.1:n.97del
ENST00000564752.1:c.316del	ENSP00000457822.1:p.Arg106AlafsTer10
ENST00000565471.5:c.84-2086del	ENSP00000457384.1:n.84-2086del
ENST00000566347.5:c.298-527del	ENSP00000457783.1:n.298-527del
ENST00000567060.5:c.298-2125del	ENSP00000454818.1:n.298-2125del
NM_017882.2:c.316del	NP_060352.1:p.Arg106AlafsTer10
XR_931861.1:n.419del
NM_017882.3:c.316del MANE Select	NP_060352.1:p.Arg106AlafsTer10