Canonical Allele Identifier: CA618959368

Gene: CLN6

Linked Data

• dbSNP Id: rs1464375066
• gnomAD v2: 15-68504267-TC-T
• gnomAD v3: 15-68211929-TC-T
• gnomAD v4: 15-68211929-TC-T
• MyVariant Identifiers: chr15:g.68504268del (hg19) ; chr15:g.68211930del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211935del , CM000677.2:g.68211935del	GRCh38
NC_000015.9:g.68504273del , CM000677.1:g.68504273del	GRCh37
NC_000015.8:g.66291327del	NCBI36
NG_008764.2:g.50282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-67del MANE Select	ENSP00000249806.5:n.298-67del
ENST00000562767.2:c.84-14302del	ENSP00000456336.1:n.84-14302del
ENST00000563917.2:n.140-67del
ENST00000565471.6:c.84-2171del	ENSP00000457384.1:n.84-2171del
ENST00000635747.1:c.*201-67del	ENSP00000490627.1:n.*201-67del
ENST00000636212.1:c.298-189del	ENSP00000489851.1:n.298-189del
ENST00000636314.1:c.183-612del	ENSP00000490295.1:n.183-612del
ENST00000636674.1:n.1214del
ENST00000636964.1:n.1403del
ENST00000637054.1:c.198+6606del	ENSP00000490807.1:n.198+6606del
ENST00000637223.1:c.*201-612del	ENSP00000490010.1:n.*201-612del
ENST00000637329.1:c.209-9del
ENST00000637450.1:c.183-67del	ENSP00000490204.1:n.183-67del
ENST00000637494.1:c.199-612del	ENSP00000490057.1:n.199-612del
ENST00000637667.1:c.199-67del	ENSP00000489843.1:n.199-67del
ENST00000637823.1:c.224-287del
ENST00000637888.1:c.198+6606del	ENSP00000490546.1:n.198+6606del
ENST00000638076.1:c.298-67del	ENSP00000490373.1:n.298-67del
ENST00000638144.1:n.130-612del
ENST00000646164.1:c.38+6606del
ENST00000249806.9:c.298-67del	ENSP00000249806.5:n.298-67del
ENST00000538696.5:c.394-67del	ENSP00000445770.1:n.394-67del
ENST00000562767.1:c.84-14302del	ENSP00000456336.1:n.84-14302del
ENST00000563917.1:n.79-67del
ENST00000564752.1:c.298-67del	ENSP00000457822.1:n.298-67del
ENST00000565471.5:c.84-2171del	ENSP00000457384.1:n.84-2171del
ENST00000566347.5:c.298-612del	ENSP00000457783.1:n.298-612del
ENST00000567060.5:c.298-2210del	ENSP00000454818.1:n.298-2210del
NM_017882.2:c.298-67del	NP_060352.1:n.298-67del
XR_931861.1:n.401-67del
NM_017882.3:c.298-67del MANE Select	NP_060352.1:n.298-67del