Canonical Allele Identifier: CA2629163078

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208063-CCCCTACTCCTGTATTCAGATGCCCTCCATGGCCCACCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208067_68208105del , CM000677.2:g.68208067_68208105del	GRCh38
NC_000015.9:g.68500405_68500443del , CM000677.1:g.68500405_68500443del	GRCh37
NC_000015.8:g.66287459_66287497del	NCBI36
NG_008764.2:g.54110_54148del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*38_*76del MANE Select	ENSP00000249806.5:n.*38_*76del
ENST00000562767.2:c.84-10474_84-10436del	ENSP00000456336.1:n.84-10474_84-10436del
ENST00000565471.6:c.*38_*76del	ENSP00000457384.1:n.*38_*76del
ENST00000636964.1:n.2502_2540del
ENST00000637054.1:c.198+10434_199-10436del	ENSP00000490807.1:n.198+10434_199-10436del
ENST00000637329.1:c.943_981del
ENST00000637888.1:c.198+10434_199-10436del	ENSP00000490546.1:n.198+10434_199-10436del
ENST00000638076.1:c.*577_*615del	ENSP00000490373.1:n.*577_*615del
ENST00000646164.1:c.39-8421_39-8383del
ENST00000249806.9:c.*38_*76del	ENSP00000249806.5:n.*38_*76del
ENST00000562767.1:c.84-10474_84-10436del	ENSP00000456336.1:n.84-10474_84-10436del
ENST00000565471.5:c.*38_*76del	ENSP00000457384.1:n.*38_*76del
ENST00000566347.5:c.*38_*76del	ENSP00000457783.1:n.*38_*76del
ENST00000567060.5:c.*372_*410del	ENSP00000454818.1:n.*372_*410del
NM_017882.2:c.*38_*76del	NP_060352.1:n.*38_*76del
NM_017882.3:c.*38_*76del MANE Select	NP_060352.1:n.*38_*76del