Canonical Allele Identifier: CA2629164050

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208312-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208314dup , CM000677.2:g.68208314dup	GRCh38
NC_000015.9:g.68500652dup , CM000677.1:g.68500652dup	GRCh37
NC_000015.8:g.66287706dup	NCBI36
NG_008764.2:g.53899dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.763dup MANE Select	ENSP00000249806.5:p.Leu255ProfsTer29
ENST00000562767.2:c.84-10685dup	ENSP00000456336.1:n.84-10685dup
ENST00000565471.6:c.304dup	ENSP00000457384.1:p.Leu102ProfsTer29
ENST00000635747.1:c.*666dup	ENSP00000490627.1:n.*666dup
ENST00000636212.1:c.*433dup	ENSP00000489851.1:n.*433dup
ENST00000636674.1:n.1865dup
ENST00000636964.1:n.2291dup
ENST00000637054.1:c.198+10223dup	ENSP00000490807.1:n.198+10223dup
ENST00000637329.1:c.732dup
ENST00000637450.1:c.*417dup	ENSP00000490204.1:n.*417dup
ENST00000637494.1:c.475dup	ENSP00000490057.1:p.Leu159ProfsTer29
ENST00000637667.1:c.664dup	ENSP00000489843.1:p.Leu222ProfsTer29
ENST00000637823.1:c.588dup
ENST00000637888.1:c.198+10223dup	ENSP00000490546.1:n.198+10223dup
ENST00000638076.1:c.*366dup	ENSP00000490373.1:n.*366dup
ENST00000638144.1:n.406dup
ENST00000646164.1:c.39-8632dup
ENST00000249806.9:c.763dup	ENSP00000249806.5:p.Leu255ProfsTer29
ENST00000538696.5:c.859dup	ENSP00000445770.1:p.Leu287ProfsTer29
ENST00000562767.1:c.84-10685dup	ENSP00000456336.1:n.84-10685dup
ENST00000565471.5:c.304dup	ENSP00000457384.1:p.Leu102ProfsTer29
ENST00000566347.5:c.574dup	ENSP00000457783.1:p.Leu192ProfsTer29
ENST00000567060.5:c.*161dup	ENSP00000454818.1:n.*161dup
NM_017882.2:c.763dup	NP_060352.1:p.Leu255ProfsTer29
NM_017882.3:c.763dup MANE Select	NP_060352.1:p.Leu255ProfsTer29