Canonical Allele Identifier: CA2804592364

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208355_68208356insCCTCTTCATCTTCACCTTCTTC , CM000677.2:g.68208355_68208356insCCTCTTCATCTTCACCTTCTTC	GRCh38
NC_000015.9:g.68500693_68500694insCCTCTTCATCTTCACCTTCTTC , CM000677.1:g.68500693_68500694insCCTCTTCATCTTCACCTTCTTC	GRCh37
NC_000015.8:g.66287747_66287748insCCTCTTCATCTTCACCTTCTTC	NCBI36
NG_008764.2:g.53856_53857insGAAGAAGGTGAAGATGAAGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.720_721insGAAGAAGGTGAAGATGAAGAGG MANE Select	ENSP00000249806.5:p.Met241GlufsTer?
ENST00000562767.2:c.84-10728_84-10727insGAAGAAGGTGAAGATGAAGAGG	ENSP00000456336.1:n.84-10728_84-10727insGAAGAAGGTGAAGATGAAGAG...
ENST00000565471.6:c.261_262insGAAGAAGGTGAAGATGAAGAGG	ENSP00000457384.1:p.Met88GlufsTer?
ENST00000635747.1:c.*623_*624insGAAGAAGGTGAAGATGAAGAGG	ENSP00000490627.1:n.*623_*624insGAAGAAGGTGAAGATGAAGAGG
ENST00000636212.1:c.*390_*391insGAAGAAGGTGAAGATGAAGAGG	ENSP00000489851.1:n.*390_*391insGAAGAAGGTGAAGATGAAGAGG
ENST00000636674.1:n.1822_1823insGAAGAAGGTGAAGATGAAGAGG
ENST00000636964.1:n.2248_2249insGAAGAAGGTGAAGATGAAGAGG
ENST00000637054.1:c.198+10180_198+10181insGAAGAAGGTGAAGATGAAGAGG	ENSP00000490807.1:n.198+10180_198+10181insGAAGAAGGTGAAGATGAAG...
ENST00000637329.1:c.689_690insGAAGAAGGTGAAGATGAAGAGG
ENST00000637450.1:c.*374_*375insGAAGAAGGTGAAGATGAAGAGG	ENSP00000490204.1:n.*374_*375insGAAGAAGGTGAAGATGAAGAGG
ENST00000637494.1:c.432_433insGAAGAAGGTGAAGATGAAGAGG	ENSP00000490057.1:p.Met145GlufsTer?
ENST00000637667.1:c.621_622insGAAGAAGGTGAAGATGAAGAGG	ENSP00000489843.1:p.Met208GlufsTer?
ENST00000637823.1:c.545_546insGAAGAAGGTGAAGATGAAGAGG
ENST00000637888.1:c.198+10180_198+10181insGAAGAAGGTGAAGATGAAGAGG	ENSP00000490546.1:n.198+10180_198+10181insGAAGAAGGTGAAGATGAAG...
ENST00000638076.1:c.*323_*324insGAAGAAGGTGAAGATGAAGAGG	ENSP00000490373.1:n.*323_*324insGAAGAAGGTGAAGATGAAGAGG
ENST00000638144.1:n.363_364insGAAGAAGGTGAAGATGAAGAGG
ENST00000646164.1:c.39-8675_39-8674insGAAGAAGGTGAAGATGAAGAGG
ENST00000249806.9:c.720_721insGAAGAAGGTGAAGATGAAGAGG	ENSP00000249806.5:p.Met241GlufsTer?
ENST00000538696.5:c.816_817insGAAGAAGGTGAAGATGAAGAGG	ENSP00000445770.1:p.Met273GlufsTer?
ENST00000562767.1:c.84-10728_84-10727insGAAGAAGGTGAAGATGAAGAGG	ENSP00000456336.1:n.84-10728_84-10727insGAAGAAGGTGAAGATGAAGAG...
ENST00000564752.1:c.*104_*105insGAAGAAGGTGAAGATGAAGAGG	ENSP00000457822.1:n.*104_*105insGAAGAAGGTGAAGATGAAGAGG
ENST00000565471.5:c.261_262insGAAGAAGGTGAAGATGAAGAGG	ENSP00000457384.1:p.Met88GlufsTer?
ENST00000566347.5:c.531_532insGAAGAAGGTGAAGATGAAGAGG	ENSP00000457783.1:p.Met178GlufsTer?
ENST00000567060.5:c.*118_*119insGAAGAAGGTGAAGATGAAGAGG	ENSP00000454818.1:n.*118_*119insGAAGAAGGTGAAGATGAAGAGG
NM_017882.2:c.720_721insGAAGAAGGTGAAGATGAAGAGG	NP_060352.1:p.Met241GlufsTer?
NM_017882.3:c.720_721insGAAGAAGGTGAAGATGAAGAGG MANE Select	NP_060352.1:p.Met241GlufsTer?