Canonical Allele Identifier: CA618959365

Gene: CLN6

Linked Data

• dbSNP Id: rs1300940787
• gnomAD v2: 15-68504206-GGTT-G
• gnomAD v4: 15-68211868-GGTT-G
• MyVariant Identifiers: chr15:g.68504207_68504209del (hg19) ; chr15:g.68211869_68211871del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211869_68211871del , CM000677.2:g.68211869_68211871del	GRCh38
NC_000015.9:g.68504207_68504209del , CM000677.1:g.68504207_68504209del	GRCh37
NC_000015.8:g.66291261_66291263del	NCBI36
NG_008764.2:g.50341_50343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-8_298-6del MANE Select	ENSP00000249806.5:n.298-8_298-6del
ENST00000562767.2:c.84-14243_84-14241del	ENSP00000456336.1:n.84-14243_84-14241del
ENST00000563917.2:n.140-8_140-6del
ENST00000565471.6:c.84-2112_84-2110del	ENSP00000457384.1:n.84-2112_84-2110del
ENST00000635747.1:c.*201-8_*201-6del	ENSP00000490627.1:n.*201-8_*201-6del
ENST00000636212.1:c.298-130_298-128del	ENSP00000489851.1:n.298-130_298-128del
ENST00000636314.1:c.183-553_183-551del	ENSP00000490295.1:n.183-553_183-551del
ENST00000636674.1:n.1273_1275del
ENST00000636964.1:n.1462_1464del
ENST00000637054.1:c.198+6665_198+6667del	ENSP00000490807.1:n.198+6665_198+6667del
ENST00000637223.1:c.*201-553_*201-551del	ENSP00000490010.1:n.*201-553_*201-551del
ENST00000637329.1:c.259_261del
ENST00000637450.1:c.183-8_183-6del	ENSP00000490204.1:n.183-8_183-6del
ENST00000637494.1:c.199-553_199-551del	ENSP00000490057.1:n.199-553_199-551del
ENST00000637667.1:c.199-8_199-6del	ENSP00000489843.1:n.199-8_199-6del
ENST00000637823.1:c.224-228_224-226del
ENST00000637888.1:c.198+6665_198+6667del	ENSP00000490546.1:n.198+6665_198+6667del
ENST00000638076.1:c.298-8_298-6del	ENSP00000490373.1:n.298-8_298-6del
ENST00000638144.1:n.130-553_130-551del
ENST00000646164.1:c.38+6665_38+6667del
ENST00000249806.9:c.298-8_298-6del	ENSP00000249806.5:n.298-8_298-6del
ENST00000538696.5:c.394-8_394-6del	ENSP00000445770.1:n.394-8_394-6del
ENST00000562767.1:c.84-14243_84-14241del	ENSP00000456336.1:n.84-14243_84-14241del
ENST00000563917.1:n.79-8_79-6del
ENST00000564752.1:c.298-8_298-6del	ENSP00000457822.1:n.298-8_298-6del
ENST00000565471.5:c.84-2112_84-2110del	ENSP00000457384.1:n.84-2112_84-2110del
ENST00000566347.5:c.298-553_298-551del	ENSP00000457783.1:n.298-553_298-551del
ENST00000567060.5:c.298-2151_298-2149del	ENSP00000454818.1:n.298-2151_298-2149del
NM_017882.2:c.298-8_298-6del	NP_060352.1:n.298-8_298-6del
XR_931861.1:n.401-8_401-6del
NM_017882.3:c.298-8_298-6del MANE Select	NP_060352.1:n.298-8_298-6del