Canonical Allele Identifier: CA971078188

Gene: CLN6

Linked Data

• dbSNP Id: rs2093192711
• gnomAD v3: 15-68208060-C-CA
• gnomAD v4: 15-68208060-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208060_68208061insA , CM000677.2:g.68208060_68208061insA	GRCh38
NC_000015.9:g.68500398_68500399insA , CM000677.1:g.68500398_68500399insA	GRCh37
NC_000015.8:g.66287452_66287453insA	NCBI36
NG_008764.2:g.54151_54152insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*79_*80insT MANE Select	ENSP00000249806.5:n.*79_*80insT
ENST00000562767.2:c.84-10433_84-10432insT	ENSP00000456336.1:n.84-10433_84-10432insT
ENST00000565471.6:c.*79_*80insT	ENSP00000457384.1:n.*79_*80insT
ENST00000636964.1:n.2543_2544insT
ENST00000637054.1:c.199-10433_199-10432insT	ENSP00000490807.1:n.199-10433_199-10432insT
ENST00000637329.1:c.984_985insT
ENST00000637888.1:c.199-10433_199-10432insT	ENSP00000490546.1:n.199-10433_199-10432insT
ENST00000638076.1:c.*618_*619insT	ENSP00000490373.1:n.*618_*619insT
ENST00000646164.1:c.39-8380_39-8379insT
ENST00000249806.9:c.*79_*80insT	ENSP00000249806.5:n.*79_*80insT
ENST00000562767.1:c.84-10433_84-10432insT	ENSP00000456336.1:n.84-10433_84-10432insT
ENST00000565471.5:c.*79_*80insT	ENSP00000457384.1:n.*79_*80insT
ENST00000566347.5:c.*79_*80insT	ENSP00000457783.1:n.*79_*80insT
ENST00000567060.5:c.*413_*414insT	ENSP00000454818.1:n.*413_*414insT
NM_017882.2:c.*79_*80insT	NP_060352.1:n.*79_*80insT
NM_017882.3:c.*79_*80insT MANE Select	NP_060352.1:n.*79_*80insT