Canonical Allele Identifier: CA2695220935

Gene: CLN6

Linked Data

• ClinVar Variation Id: 3233661
• ClinVar RCV Id: RCV004526511

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208240_68208247delinsAGG , CM000677.2:g.68208240_68208247delinsAGG	GRCh38
NC_000015.9:g.68500578_68500585delinsAGG , CM000677.1:g.68500578_68500585delinsAGG	GRCh37
NC_000015.8:g.66287632_66287639delinsAGG	NCBI36
NG_008764.2:g.53965_53972delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.829_836delinsCCT MANE Select	ENSP00000249806.5:p.Val277ProfsTer5
ENST00000562767.2:c.84-10619_84-10612delinsCCT	ENSP00000456336.1:n.84-10619_84-10612delinsCCT
ENST00000565471.6:c.370_377delinsCCT	ENSP00000457384.1:p.Val124ProfsTer5
ENST00000635747.1:c.*732_*739delinsCCT	ENSP00000490627.1:n.*732_*739delinsCCT
ENST00000636212.1:c.*499_*506delinsCCT	ENSP00000489851.1:n.*499_*506delinsCCT
ENST00000636674.1:n.1931_1938delinsCCT
ENST00000636964.1:n.2357_2364delinsCCT
ENST00000637054.1:c.198+10289_198+10296delinsCCT	ENSP00000490807.1:n.198+10289_198+10296delinsCCT
ENST00000637329.1:c.798_805delinsCCT
ENST00000637450.1:c.*483_*490delinsCCT	ENSP00000490204.1:n.*483_*490delinsCCT
ENST00000637494.1:c.541_548delinsCCT	ENSP00000490057.1:p.Val181ProfsTer5
ENST00000637667.1:c.730_737delinsCCT	ENSP00000489843.1:p.Val244ProfsTer5
ENST00000637823.1:c.654_661delinsCCT
ENST00000637888.1:c.198+10289_198+10296delinsCCT	ENSP00000490546.1:n.198+10289_198+10296delinsCCT
ENST00000638076.1:c.*432_*439delinsCCT	ENSP00000490373.1:n.*432_*439delinsCCT
ENST00000638144.1:n.472_479delinsCCT
ENST00000646164.1:c.39-8566_39-8559delinsCCT
ENST00000249806.9:c.829_836delinsCCT	ENSP00000249806.5:p.Val277ProfsTer5
ENST00000538696.5:c.925_932delinsCCT	ENSP00000445770.1:p.Val309ProfsTer5
ENST00000562767.1:c.84-10619_84-10612delinsCCT	ENSP00000456336.1:n.84-10619_84-10612delinsCCT
ENST00000565471.5:c.370_377delinsCCT	ENSP00000457384.1:p.Val124ProfsTer5
ENST00000566347.5:c.640_647delinsCCT	ENSP00000457783.1:p.Val214ProfsTer5
ENST00000567060.5:c.*227_*234delinsCCT	ENSP00000454818.1:n.*227_*234delinsCCT
NM_017882.2:c.829_836delinsCCT	NP_060352.1:p.Val277ProfsTer5
NM_017882.3:c.829_836delinsCCT MANE Select	NP_060352.1:p.Val277ProfsTer5