Canonical Allele Identifier: CA618959378

Gene: CLN6

Linked Data

• dbSNP Id: rs1314332340
• gnomAD v2: 15-68500430-T-TG
• gnomAD v3: 15-68208092-T-TG
• gnomAD v4: 15-68208092-T-TG
• MyVariant Identifiers: chr15:g.68500430_68500431insG (hg19) ; chr15:g.68208092_68208093insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208094dup , CM000677.2:g.68208094dup	GRCh38
NC_000015.9:g.68500432dup , CM000677.1:g.68500432dup	GRCh37
NC_000015.8:g.66287486dup	NCBI36
NG_008764.2:g.54119dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*47dup MANE Select	ENSP00000249806.5:n.*47dup
ENST00000562767.2:c.84-10465dup	ENSP00000456336.1:n.84-10465dup
ENST00000565471.6:c.*47dup	ENSP00000457384.1:n.*47dup
ENST00000636964.1:n.2511dup
ENST00000637054.1:c.198+10443dup	ENSP00000490807.1:n.198+10443dup
ENST00000637329.1:c.952dup
ENST00000637888.1:c.198+10443dup	ENSP00000490546.1:n.198+10443dup
ENST00000638076.1:c.*586dup	ENSP00000490373.1:n.*586dup
ENST00000646164.1:c.39-8412dup
ENST00000249806.9:c.*47dup	ENSP00000249806.5:n.*47dup
ENST00000538696.5:c.*47dup	ENSP00000445770.1:n.*47dup
ENST00000562767.1:c.84-10465dup	ENSP00000456336.1:n.84-10465dup
ENST00000565471.5:c.*47dup	ENSP00000457384.1:n.*47dup
ENST00000566347.5:c.*47dup	ENSP00000457783.1:n.*47dup
ENST00000567060.5:c.*381dup	ENSP00000454818.1:n.*381dup
NM_017882.2:c.*47dup	NP_060352.1:n.*47dup
NM_017882.3:c.*47dup MANE Select	NP_060352.1:n.*47dup