Canonical Allele Identifier: CA2184872450

Gene: CLN6

Linked Data

• dbSNP Id: rs2093205783

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211692_68211693del , CM000677.2:g.68211692_68211693del	GRCh38
NC_000015.9:g.68504030_68504031del , CM000677.1:g.68504030_68504031del	GRCh37
NC_000015.8:g.66291084_66291085del	NCBI36
NG_008764.2:g.50521_50522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.470_471del MANE Select	ENSP00000249806.5:p.Leu157GlnfsTer10
ENST00000562767.2:c.84-14063_84-14062del	ENSP00000456336.1:n.84-14063_84-14062del
ENST00000563917.2:n.312_313del
ENST00000565471.6:c.84-1932_84-1931del	ENSP00000457384.1:n.84-1932_84-1931del
ENST00000635747.1:c.*373_*374del	ENSP00000490627.1:n.*373_*374del
ENST00000636212.1:c.*21_*22del	ENSP00000489851.1:n.*21_*22del
ENST00000636314.1:c.183-373_183-372del	ENSP00000490295.1:n.183-373_183-372del
ENST00000636674.1:n.1453_1454del
ENST00000636964.1:n.1642_1643del
ENST00000637054.1:c.198+6845_198+6846del	ENSP00000490807.1:n.198+6845_198+6846del
ENST00000637223.1:c.*201-373_*201-372del	ENSP00000490010.1:n.*201-373_*201-372del
ENST00000637329.1:c.439_440del
ENST00000637450.1:c.*124_*125del	ENSP00000490204.1:n.*124_*125del
ENST00000637494.1:c.199-373_199-372del	ENSP00000490057.1:n.199-373_199-372del
ENST00000637667.1:c.371_372del	ENSP00000489843.1:p.Leu124GlnfsTer10
ENST00000637823.1:c.224-48_224-47del
ENST00000637888.1:c.198+6845_198+6846del	ENSP00000490546.1:n.198+6845_198+6846del
ENST00000638076.1:c.470_471del	ENSP00000490373.1:p.Leu157GlnfsTer?
ENST00000638144.1:n.130-373_130-372del
ENST00000646164.1:c.38+6845_38+6846del
ENST00000249806.9:c.470_471del	ENSP00000249806.5:p.Leu157GlnfsTer10
ENST00000538696.5:c.566_567del	ENSP00000445770.1:p.Leu189GlnfsTer10
ENST00000562767.1:c.84-14063_84-14062del	ENSP00000456336.1:n.84-14063_84-14062del
ENST00000563917.1:n.251_252del
ENST00000564752.1:c.470_471del	ENSP00000457822.1:p.Leu157GlnfsTer?
ENST00000565471.5:c.84-1932_84-1931del	ENSP00000457384.1:n.84-1932_84-1931del
ENST00000566347.5:c.298-373_298-372del	ENSP00000457783.1:n.298-373_298-372del
ENST00000567060.5:c.298-1971_298-1970del	ENSP00000454818.1:n.298-1971_298-1970del
NM_017882.2:c.470_471del	NP_060352.1:p.Leu157GlnfsTer10
XR_931861.1:n.573_574del
NM_017882.3:c.470_471del MANE Select	NP_060352.1:p.Leu157GlnfsTer10