Canonical Allele Identifier: CA915946076

Gene: CLN6

Linked Data

• ClinVar Variation Id: 803105
• ClinVar RCV Id: RCV000989352
• dbSNP Id: rs1595816474
• gnomAD v3: 15-68208243-GCGAC-G
• gnomAD v4: 15-68208243-GCGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208245_68208248del , CM000677.2:g.68208245_68208248del	GRCh38
NC_000015.9:g.68500583_68500586del , CM000677.1:g.68500583_68500586del	GRCh37
NC_000015.8:g.66287637_66287640del	NCBI36
NG_008764.2:g.53965_53968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.829_832del MANE Select	ENSP00000249806.5:p.Val277ProfsTer?
ENST00000562767.2:c.84-10619_84-10616del	ENSP00000456336.1:n.84-10619_84-10616del
ENST00000565471.6:c.370_373del	ENSP00000457384.1:p.Val124ProfsTer?
ENST00000635747.1:c.*732_*735del	ENSP00000490627.1:n.*732_*735del
ENST00000636212.1:c.*499_*502del	ENSP00000489851.1:n.*499_*502del
ENST00000636674.1:n.1931_1934del
ENST00000636964.1:n.2357_2360del
ENST00000637054.1:c.198+10289_198+10292del	ENSP00000490807.1:n.198+10289_198+10292del
ENST00000637329.1:c.798_801del
ENST00000637450.1:c.*483_*486del	ENSP00000490204.1:n.*483_*486del
ENST00000637494.1:c.541_544del	ENSP00000490057.1:p.Val181ProfsTer?
ENST00000637667.1:c.730_733del	ENSP00000489843.1:p.Val244ProfsTer?
ENST00000637823.1:c.654_657del
ENST00000637888.1:c.198+10289_198+10292del	ENSP00000490546.1:n.198+10289_198+10292del
ENST00000638076.1:c.*432_*435del	ENSP00000490373.1:n.*432_*435del
ENST00000638144.1:n.472_475del
ENST00000646164.1:c.39-8566_39-8563del
ENST00000249806.9:c.829_832del	ENSP00000249806.5:p.Val277ProfsTer?
ENST00000538696.5:c.925_928del	ENSP00000445770.1:p.Val309ProfsTer?
ENST00000562767.1:c.84-10619_84-10616del	ENSP00000456336.1:n.84-10619_84-10616del
ENST00000565471.5:c.370_373del	ENSP00000457384.1:p.Val124ProfsTer?
ENST00000566347.5:c.640_643del	ENSP00000457783.1:p.Val214ProfsTer?
ENST00000567060.5:c.*227_*230del	ENSP00000454818.1:n.*227_*230del
NM_017882.2:c.829_832del	NP_060352.1:p.Val277ProfsTer?
NM_017882.3:c.829_832del MANE Select	NP_060352.1:p.Val277ProfsTer?