Canonical Allele Identifier: CA618959489
Gene: CLN6 HGNC NCBI

Linked Data

dbSNP Id: rs1567095801
MyVariant Identifiers: chr15:g.68503975del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211638del , CM000677.2:g.68211638del GRCh38
NC_000015.9:g.68503976del , CM000677.1:g.68503976del GRCh37
NC_000015.8:g.66291030del NCBI36
NG_008764.2:g.50575del

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.486+38del MANE Select ENSP00000249806.5:n.486+38del
ENST00000562767.2:c.84-14009del ENSP00000456336.1:n.84-14009del
ENST00000563917.2:n.328+38del
ENST00000565471.6:c.84-1878del ENSP00000457384.1:n.84-1878del
ENST00000635747.1:c.*389+38del ENSP00000490627.1:n.*389+38del
ENST00000636212.1:c.*75del ENSP00000489851.1:n.*75del
ENST00000636314.1:c.183-319del ENSP00000490295.1:n.183-319del
ENST00000636674.1:n.1507del
ENST00000636964.1:n.1696del
ENST00000637054.1:c.198+6899del ENSP00000490807.1:n.198+6899del
ENST00000637223.1:c.*201-319del ENSP00000490010.1:n.*201-319del
ENST00000637329.1:c.455+38del
ENST00000637450.1:c.*140+38del ENSP00000490204.1:n.*140+38del
ENST00000637494.1:c.199-319del ENSP00000490057.1:n.199-319del
ENST00000637667.1:c.387+38del ENSP00000489843.1:n.387+38del
ENST00000637823.1:c.230del
ENST00000637888.1:c.198+6899del ENSP00000490546.1:n.198+6899del
ENST00000638076.1:c.*8del ENSP00000490373.1:n.*8del
ENST00000638144.1:n.130-319del
ENST00000646164.1:c.38+6899del
ENST00000249806.9:c.486+38del ENSP00000249806.5:n.486+38del
ENST00000538696.5:c.582+38del ENSP00000445770.1:n.582+38del
ENST00000562767.1:c.84-14009del ENSP00000456336.1:n.84-14009del
ENST00000563917.1:n.305del
ENST00000564752.1:c.512+12del ENSP00000457822.1:n.512+12del
ENST00000565471.5:c.84-1878del ENSP00000457384.1:n.84-1878del
ENST00000566347.5:c.298-319del ENSP00000457783.1:n.298-319del
ENST00000567060.5:c.298-1917del ENSP00000454818.1:n.298-1917del
NM_017882.2:c.486+38del NP_060352.1:n.486+38del
XR_931861.1:n.627del
NM_017882.3:c.486+38del MANE Select NP_060352.1:n.486+38del