Canonical Allele Identifier: CA2629163067

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208061-CCCCCCTACTCCTGTATTCAGATGCCCTCCATGGCCCACCCTCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208065_68208109del , CM000677.2:g.68208065_68208109del	GRCh38
NC_000015.9:g.68500403_68500447del , CM000677.1:g.68500403_68500447del	GRCh37
NC_000015.8:g.66287457_66287501del	NCBI36
NG_008764.2:g.54106_54150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*34_*78del MANE Select	ENSP00000249806.5:n.*34_*78del
ENST00000562767.2:c.84-10478_84-10434del	ENSP00000456336.1:n.84-10478_84-10434del
ENST00000565471.6:c.*34_*78del	ENSP00000457384.1:n.*34_*78del
ENST00000636964.1:n.2498_2542del
ENST00000637054.1:c.198+10430_199-10434del	ENSP00000490807.1:n.198+10430_199-10434del
ENST00000637329.1:c.939_983del
ENST00000637888.1:c.198+10430_199-10434del	ENSP00000490546.1:n.198+10430_199-10434del
ENST00000638076.1:c.*573_*617del	ENSP00000490373.1:n.*573_*617del
ENST00000646164.1:c.39-8425_39-8381del
ENST00000249806.9:c.*34_*78del	ENSP00000249806.5:n.*34_*78del
ENST00000562767.1:c.84-10478_84-10434del	ENSP00000456336.1:n.84-10478_84-10434del
ENST00000565471.5:c.*34_*78del	ENSP00000457384.1:n.*34_*78del
ENST00000566347.5:c.*34_*78del	ENSP00000457783.1:n.*34_*78del
ENST00000567060.5:c.*368_*412del	ENSP00000454818.1:n.*368_*412del
NM_017882.2:c.*34_*78del	NP_060352.1:n.*34_*78del
NM_017882.3:c.*34_*78del MANE Select	NP_060352.1:n.*34_*78del