Canonical Allele Identifier: CA2804592316

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208132_68208134del , CM000677.2:g.68208132_68208134del	GRCh38
NC_000015.9:g.68500470_68500472del , CM000677.1:g.68500470_68500472del	GRCh37
NC_000015.8:g.66287524_66287526del	NCBI36
NG_008764.2:g.54078_54080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*6_*8del MANE Select	ENSP00000249806.5:n.*6_*8del
ENST00000562767.2:c.84-10506_84-10504del	ENSP00000456336.1:n.84-10506_84-10504del
ENST00000565471.6:c.*6_*8del	ENSP00000457384.1:n.*6_*8del
ENST00000635747.1:c.*845_*847del	ENSP00000490627.1:n.*845_*847del
ENST00000636964.1:n.2470_2472del
ENST00000637054.1:c.198+10402_198+10404del	ENSP00000490807.1:n.198+10402_198+10404del
ENST00000637329.1:c.911_913del
ENST00000637494.1:c.*6_*8del	ENSP00000490057.1:n.*6_*8del
ENST00000637888.1:c.198+10402_198+10404del	ENSP00000490546.1:n.198+10402_198+10404del
ENST00000638076.1:c.*545_*547del	ENSP00000490373.1:n.*545_*547del
ENST00000646164.1:c.39-8453_39-8451del
ENST00000249806.9:c.*6_*8del	ENSP00000249806.5:n.*6_*8del
ENST00000538696.5:c.*6_*8del	ENSP00000445770.1:n.*6_*8del
ENST00000562767.1:c.84-10506_84-10504del	ENSP00000456336.1:n.84-10506_84-10504del
ENST00000565471.5:c.*6_*8del	ENSP00000457384.1:n.*6_*8del
ENST00000566347.5:c.*6_*8del	ENSP00000457783.1:n.*6_*8del
ENST00000567060.5:c.*340_*342del	ENSP00000454818.1:n.*340_*342del
NM_017882.2:c.*6_*8del	NP_060352.1:n.*6_*8del
NM_017882.3:c.*6_*8del MANE Select	NP_060352.1:n.*6_*8del