Canonical Allele Identifier: CA052538
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 242581
ClinVar RCV Id: RCV000184041
dbSNP Id: rs794729220

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68208243_68208251del , CM000677.2:g.68208243_68208251del GRCh38
NC_000015.9:g.68500581_68500589del , CM000677.1:g.68500581_68500589del GRCh37
NC_000015.8:g.66287635_66287643del NCBI36
NG_008764.2:g.53965_53973del

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.829_837del MANE Select ENSP00000249806.5:p.Val277_Trp279del
ENST00000562767.2:c.84-10619_84-10611del ENSP00000456336.1:n.84-10619_84-10611del
ENST00000565471.6:c.370_378del ENSP00000457384.1:p.Val124_Trp126del
ENST00000635747.1:c.*732_*740del ENSP00000490627.1:n.*732_*740del
ENST00000636212.1:c.*499_*507del ENSP00000489851.1:n.*499_*507del
ENST00000636674.1:n.1931_1939del
ENST00000636964.1:n.2357_2365del
ENST00000637054.1:c.198+10289_198+10297del ENSP00000490807.1:n.198+10289_198+10297de...
ENST00000637329.1:c.798_806del
ENST00000637450.1:c.*483_*491del ENSP00000490204.1:n.*483_*491del
ENST00000637494.1:c.541_549del ENSP00000490057.1:p.Val181_Trp183del
ENST00000637667.1:c.730_738del ENSP00000489843.1:p.Val244_Trp246del
ENST00000637823.1:c.654_662del
ENST00000637888.1:c.198+10289_198+10297del ENSP00000490546.1:n.198+10289_198+10297de...
ENST00000638076.1:c.*432_*440del ENSP00000490373.1:n.*432_*440del
ENST00000638144.1:n.472_480del
ENST00000646164.1:c.39-8566_39-8558del
ENST00000249806.9:c.829_837del ENSP00000249806.5:p.Val277_Trp279del
ENST00000538696.5:c.925_933del ENSP00000445770.1:p.Val309_Trp311del
ENST00000562767.1:c.84-10619_84-10611del ENSP00000456336.1:n.84-10619_84-10611del
ENST00000565471.5:c.370_378del ENSP00000457384.1:p.Val124_Trp126del
ENST00000566347.5:c.640_648del ENSP00000457783.1:p.Val214_Trp216del
ENST00000567060.5:c.*227_*235del ENSP00000454818.1:n.*227_*235del
NM_017882.2:c.829_837del NP_060352.1:p.Val277_Trp279del
NM_017882.3:c.829_837del MANE Select NP_060352.1:p.Val277_Trp279del