Canonical Allele Identifier: CA658825089

Gene: CLN6

Linked Data

• ClinVar Variation Id: 556613
• ClinVar RCV Id: RCV000672641
• dbSNP Id: rs1555438229
• MyVariant Identifiers: chr15:g.68208289_68208290dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208291_68208292dup , CM000677.2:g.68208291_68208292dup	GRCh38
NC_000015.9:g.68500629_68500630dup , CM000677.1:g.68500629_68500630dup	GRCh37
NC_000015.8:g.66287683_66287684dup	NCBI36
NG_008764.2:g.53922_53923dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.786_787dup MANE Select	ENSP00000249806.5:p.Phe263SerfsTer7
ENST00000562767.2:c.84-10662_84-10661dup	ENSP00000456336.1:n.84-10662_84-10661dup
ENST00000565471.6:c.327_328dup	ENSP00000457384.1:p.Phe110SerfsTer7
ENST00000635747.1:c.*689_*690dup	ENSP00000490627.1:n.*689_*690dup
ENST00000636212.1:c.*456_*457dup	ENSP00000489851.1:n.*456_*457dup
ENST00000636674.1:n.1888_1889dup
ENST00000636964.1:n.2314_2315dup
ENST00000637054.1:c.198+10246_198+10247dup	ENSP00000490807.1:n.198+10246_198+10247dup
ENST00000637329.1:c.755_756dup
ENST00000637450.1:c.*440_*441dup	ENSP00000490204.1:n.*440_*441dup
ENST00000637494.1:c.498_499dup	ENSP00000490057.1:p.Phe167SerfsTer7
ENST00000637667.1:c.687_688dup	ENSP00000489843.1:p.Phe230SerfsTer7
ENST00000637823.1:c.611_612dup
ENST00000637888.1:c.198+10246_198+10247dup	ENSP00000490546.1:n.198+10246_198+10247dup
ENST00000638076.1:c.*389_*390dup	ENSP00000490373.1:n.*389_*390dup
ENST00000638144.1:n.429_430dup
ENST00000646164.1:c.39-8609_39-8608dup
ENST00000249806.9:c.786_787dup	ENSP00000249806.5:p.Phe263SerfsTer7
ENST00000538696.5:c.882_883dup	ENSP00000445770.1:p.Phe295SerfsTer7
ENST00000562767.1:c.84-10662_84-10661dup	ENSP00000456336.1:n.84-10662_84-10661dup
ENST00000565471.5:c.327_328dup	ENSP00000457384.1:p.Phe110SerfsTer7
ENST00000566347.5:c.597_598dup	ENSP00000457783.1:p.Phe200SerfsTer7
ENST00000567060.5:c.*184_*185dup	ENSP00000454818.1:n.*184_*185dup
NM_017882.2:c.786_787dup	NP_060352.1:p.Phe263SerfsTer7
NM_017882.3:c.786_787dup MANE Select	NP_060352.1:p.Phe263SerfsTer7