Canonical Allele Identifier: CA618959379

Gene: CLN6

Linked Data

• dbSNP Id: rs1595816347
• gnomAD v2: 15-68500432-G-GGC
• gnomAD v3: 15-68208094-G-GGC
• gnomAD v4: 15-68208094-G-GGC
• MyVariant Identifiers: chr15:g.68500432_68500433insGC (hg19) ; chr15:g.68208094_68208095insGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208094_68208095insGC , CM000677.2:g.68208094_68208095insGC	GRCh38
NC_000015.9:g.68500432_68500433insGC , CM000677.1:g.68500432_68500433insGC	GRCh37
NC_000015.8:g.66287486_66287487insGC	NCBI36
NG_008764.2:g.54117_54118insGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*45_*46insGC MANE Select	ENSP00000249806.5:n.*45_*46insGC
ENST00000562767.2:c.84-10467_84-10466insGC	ENSP00000456336.1:n.84-10467_84-10466insGC
ENST00000565471.6:c.*45_*46insGC	ENSP00000457384.1:n.*45_*46insGC
ENST00000636964.1:n.2509_2510insGC
ENST00000637054.1:c.198+10441_198+10442insGC	ENSP00000490807.1:n.198+10441_198+10442insGC
ENST00000637329.1:c.950_951insGC
ENST00000637888.1:c.198+10441_198+10442insGC	ENSP00000490546.1:n.198+10441_198+10442insGC
ENST00000638076.1:c.*584_*585insGC	ENSP00000490373.1:n.*584_*585insGC
ENST00000646164.1:c.39-8414_39-8413insGC
ENST00000249806.9:c.*45_*46insGC	ENSP00000249806.5:n.*45_*46insGC
ENST00000538696.5:c.*45_*46insGC	ENSP00000445770.1:n.*45_*46insGC
ENST00000562767.1:c.84-10467_84-10466insGC	ENSP00000456336.1:n.84-10467_84-10466insGC
ENST00000565471.5:c.*45_*46insGC	ENSP00000457384.1:n.*45_*46insGC
ENST00000566347.5:c.*45_*46insGC	ENSP00000457783.1:n.*45_*46insGC
ENST00000567060.5:c.*379_*380insGC	ENSP00000454818.1:n.*379_*380insGC
NM_017882.2:c.*45_*46insGC	NP_060352.1:n.*45_*46insGC
NM_017882.3:c.*45_*46insGC MANE Select	NP_060352.1:n.*45_*46insGC