Canonical Allele Identifier: CA618959492

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2738552
• ClinVar RCV Id: RCV003531590
• dbSNP Id: rs1381856337
• gnomAD v2: 15-68504042-TG-T
• gnomAD v3: 15-68211704-TG-T
• gnomAD v4: 15-68211704-TG-T
• MyVariant Identifiers: chr15:g.68504043del (hg19) ; chr15:g.68211705del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211708del , CM000677.2:g.68211708del	GRCh38
NC_000015.9:g.68504046del , CM000677.1:g.68504046del	GRCh37
NC_000015.8:g.66291100del	NCBI36
NG_008764.2:g.50507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.456del MANE Select	ENSP00000249806.5:p.Ile153SerfsTer10
ENST00000562767.2:c.84-14077del	ENSP00000456336.1:n.84-14077del
ENST00000563917.2:n.298del
ENST00000565471.6:c.84-1946del	ENSP00000457384.1:n.84-1946del
ENST00000635747.1:c.*359del	ENSP00000490627.1:n.*359del
ENST00000636212.1:c.*7del	ENSP00000489851.1:n.*7del
ENST00000636314.1:c.183-387del	ENSP00000490295.1:n.183-387del
ENST00000636674.1:n.1439del
ENST00000636964.1:n.1628del
ENST00000637054.1:c.198+6831del	ENSP00000490807.1:n.198+6831del
ENST00000637223.1:c.*201-387del	ENSP00000490010.1:n.*201-387del
ENST00000637329.1:c.425del
ENST00000637450.1:c.*110del	ENSP00000490204.1:n.*110del
ENST00000637494.1:c.199-387del	ENSP00000490057.1:n.199-387del
ENST00000637667.1:c.357del	ENSP00000489843.1:p.Ile120SerfsTer10
ENST00000637823.1:c.224-62del
ENST00000637888.1:c.198+6831del	ENSP00000490546.1:n.198+6831del
ENST00000638076.1:c.456del	ENSP00000490373.1:p.Ile153SerfsTer11
ENST00000638144.1:n.130-387del
ENST00000646164.1:c.38+6831del
ENST00000249806.9:c.456del	ENSP00000249806.5:p.Ile153SerfsTer10
ENST00000538696.5:c.552del	ENSP00000445770.1:p.Ile185SerfsTer10
ENST00000562767.1:c.84-14077del	ENSP00000456336.1:n.84-14077del
ENST00000563917.1:n.237del
ENST00000564752.1:c.456del	ENSP00000457822.1:p.Ile153SerfsTer11
ENST00000565471.5:c.84-1946del	ENSP00000457384.1:n.84-1946del
ENST00000566347.5:c.298-387del	ENSP00000457783.1:n.298-387del
ENST00000567060.5:c.298-1985del	ENSP00000454818.1:n.298-1985del
NM_017882.2:c.456del	NP_060352.1:p.Ile153SerfsTer10
XR_931861.1:n.559del
NM_017882.3:c.456del MANE Select	NP_060352.1:p.Ile153SerfsTer10