Canonical Allele Identifier: CA252978
Gene: CLN6 HGNC NCBI

Linked Data

dbSNP Id: rs121908079

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211292_68211294del , CM000677.2:g.68211292_68211294del GRCh38
NC_000015.9:g.68503630_68503632del , CM000677.1:g.68503630_68503632del GRCh37
NC_000015.8:g.66290684_66290686del NCBI36
NG_008764.2:g.50921_50923del

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.514_516del MANE Select ENSP00000249806.5:p.Tyr172del
ENST00000562767.2:c.84-13663_84-13661del ENSP00000456336.1:n.84-13663_84-13661del
ENST00000563917.2:n.356_358del
ENST00000565471.6:c.84-1532_84-1530del ENSP00000457384.1:n.84-1532_84-1530del
ENST00000635747.1:c.*417_*419del ENSP00000490627.1:n.*417_*419del
ENST00000636212.1:c.*184_*186del ENSP00000489851.1:n.*184_*186del
ENST00000636314.1:c.210_212del ENSP00000490295.1:p.Ile70del
ENST00000636674.1:n.1616_1618del
ENST00000636964.1:n.2042_2044del
ENST00000637054.1:c.198+7245_198+7247del ENSP00000490807.1:n.198+7245_198+7247del
ENST00000637223.1:c.*228_*230del ENSP00000490010.1:n.*228_*230del
ENST00000637329.1:c.483_485del
ENST00000637450.1:c.*168_*170del ENSP00000490204.1:n.*168_*170del
ENST00000637494.1:c.226_228del ENSP00000490057.1:p.Tyr76del
ENST00000637667.1:c.415_417del ENSP00000489843.1:p.Tyr139del
ENST00000637823.1:c.339_341del
ENST00000637888.1:c.198+7245_198+7247del ENSP00000490546.1:n.198+7245_198+7247del
ENST00000638076.1:c.*117_*119del ENSP00000490373.1:n.*117_*119del
ENST00000638144.1:n.157_159del
ENST00000646164.1:c.38+7245_38+7247del
ENST00000249806.9:c.514_516del ENSP00000249806.5:p.Tyr172del
ENST00000538696.5:c.610_612del ENSP00000445770.1:p.Tyr204del
ENST00000562767.1:c.84-13663_84-13661del ENSP00000456336.1:n.84-13663_84-13661del
ENST00000563917.1:n.414_416del
ENST00000564752.1:c.540_542del ENSP00000457822.1:p.Ile180del
ENST00000565471.5:c.84-1532_84-1530del ENSP00000457384.1:n.84-1532_84-1530del
ENST00000566347.5:c.325_327del ENSP00000457783.1:p.Tyr109del
ENST00000567060.5:c.298-1571_298-1569del ENSP00000454818.1:n.298-1571_298-1569del
NM_017882.2:c.514_516del NP_060352.1:p.Tyr172del
XR_931861.1:n.736_738del
NM_017882.3:c.514_516del MANE Select NP_060352.1:p.Tyr172del