Canonical Allele Identifier: CA2739269547

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2865552
• ClinVar RCV Id: RCV003648624

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209640_68209647del , CM000677.2:g.68209640_68209647del	GRCh38
NC_000015.9:g.68501978_68501985del , CM000677.1:g.68501978_68501985del	GRCh37
NC_000015.8:g.66289032_66289039del	NCBI36
NG_008764.2:g.52568_52575del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.658_665del MANE Select	ENSP00000249806.5:p.Tyr220ValfsTer?
ENST00000562767.2:c.84-12016_84-12009del	ENSP00000456336.1:n.84-12016_84-12009del
ENST00000563917.2:n.500_507del
ENST00000565471.6:c.199_206del	ENSP00000457384.1:p.Tyr67ValfsTer?
ENST00000635747.1:c.*561_*568del	ENSP00000490627.1:n.*561_*568del
ENST00000636212.1:c.*328_*335del	ENSP00000489851.1:n.*328_*335del
ENST00000636674.1:n.1760_1767del
ENST00000636964.1:n.2186_2193del
ENST00000637054.1:c.198+8892_198+8899del	ENSP00000490807.1:n.198+8892_198+8899del
ENST00000637329.1:c.627_634del
ENST00000637450.1:c.*312_*319del	ENSP00000490204.1:n.*312_*319del
ENST00000637494.1:c.370_377del	ENSP00000490057.1:p.Tyr124ValfsTer?
ENST00000637667.1:c.559_566del	ENSP00000489843.1:p.Tyr187ValfsTer?
ENST00000637823.1:c.483_490del
ENST00000637888.1:c.198+8892_198+8899del	ENSP00000490546.1:n.198+8892_198+8899del
ENST00000638076.1:c.*261_*268del	ENSP00000490373.1:n.*261_*268del
ENST00000638144.1:n.301_308del
ENST00000646164.1:c.38+8892_38+8899del
ENST00000249806.9:c.658_665del	ENSP00000249806.5:p.Tyr220ValfsTer?
ENST00000538696.5:c.754_761del	ENSP00000445770.1:p.Tyr252ValfsTer?
ENST00000562767.1:c.84-12016_84-12009del	ENSP00000456336.1:n.84-12016_84-12009del
ENST00000563917.1:n.558_565del
ENST00000564752.1:c.*42_*49del	ENSP00000457822.1:n.*42_*49del
ENST00000565471.5:c.199_206del	ENSP00000457384.1:p.Tyr67ValfsTer?
ENST00000566347.5:c.469_476del	ENSP00000457783.1:p.Tyr157ValfsTer?
ENST00000567060.5:c.*56_*63del	ENSP00000454818.1:n.*56_*63del
NM_017882.2:c.658_665del	NP_060352.1:p.Tyr220ValfsTer?
XR_931861.1:n.880_887del
NM_017882.3:c.658_665del MANE Select	NP_060352.1:p.Tyr220ValfsTer?