Canonical Allele Identifier: CA715171036

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2915493
• ClinVar RCV Id: RCV003649072
• dbSNP Id: rs1215499352
• gnomAD v4: 15-68211736-T-TA
• MyVariant Identifiers: chr15:g.68504074_68504075insA (hg19) ; chr15:g.68211736_68211737insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211737dup , CM000677.2:g.68211737dup	GRCh38
NC_000015.9:g.68504075dup , CM000677.1:g.68504075dup	GRCh37
NC_000015.8:g.66291129dup	NCBI36
NG_008764.2:g.50475dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.424dup MANE Select	ENSP00000249806.5:p.Tyr142LeufsTer9
ENST00000562767.2:c.84-14109dup	ENSP00000456336.1:n.84-14109dup
ENST00000563917.2:n.266dup
ENST00000565471.6:c.84-1978dup	ENSP00000457384.1:n.84-1978dup
ENST00000635747.1:c.*327dup	ENSP00000490627.1:n.*327dup
ENST00000636212.1:c.302dup	ENSP00000489851.1:p.Pro102ThrfsTer22
ENST00000636314.1:c.183-419dup	ENSP00000490295.1:n.183-419dup
ENST00000636674.1:n.1407dup
ENST00000636964.1:n.1596dup
ENST00000637054.1:c.198+6799dup	ENSP00000490807.1:n.198+6799dup
ENST00000637223.1:c.*201-419dup	ENSP00000490010.1:n.*201-419dup
ENST00000637329.1:c.393dup
ENST00000637450.1:c.*78dup	ENSP00000490204.1:n.*78dup
ENST00000637494.1:c.199-419dup	ENSP00000490057.1:n.199-419dup
ENST00000637667.1:c.325dup	ENSP00000489843.1:p.Tyr109LeufsTer9
ENST00000637823.1:c.224-94dup
ENST00000637888.1:c.198+6799dup	ENSP00000490546.1:n.198+6799dup
ENST00000638076.1:c.424dup	ENSP00000490373.1:p.Tyr142LeufsTer9
ENST00000638144.1:n.130-419dup
ENST00000646164.1:c.38+6799dup
ENST00000249806.9:c.424dup	ENSP00000249806.5:p.Tyr142LeufsTer9
ENST00000538696.5:c.520dup	ENSP00000445770.1:p.Tyr174LeufsTer9
ENST00000562767.1:c.84-14109dup	ENSP00000456336.1:n.84-14109dup
ENST00000563917.1:n.205dup
ENST00000564752.1:c.424dup	ENSP00000457822.1:p.Tyr142LeufsTer9
ENST00000565471.5:c.84-1978dup	ENSP00000457384.1:n.84-1978dup
ENST00000566347.5:c.298-419dup	ENSP00000457783.1:n.298-419dup
ENST00000567060.5:c.298-2017dup	ENSP00000454818.1:n.298-2017dup
NM_017882.2:c.424dup	NP_060352.1:p.Tyr142LeufsTer9
XR_931861.1:n.527dup
NM_017882.3:c.424dup MANE Select	NP_060352.1:p.Tyr142LeufsTer9