Canonical Allele Identifier: CA2695220936

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208318_68208320del , CM000677.2:g.68208318_68208320del	GRCh38
NC_000015.9:g.68500656_68500658del , CM000677.1:g.68500656_68500658del	GRCh37
NC_000015.8:g.66287710_66287712del	NCBI36
NG_008764.2:g.53893_53895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.757_759del MANE Select	ENSP00000249806.5:p.Leu253del
ENST00000562767.2:c.84-10691_84-10689del	ENSP00000456336.1:n.84-10691_84-10689del
ENST00000565471.6:c.298_300del	ENSP00000457384.1:p.Leu100del
ENST00000635747.1:c.*660_*662del	ENSP00000490627.1:n.*660_*662del
ENST00000636212.1:c.*427_*429del	ENSP00000489851.1:n.*427_*429del
ENST00000636674.1:n.1859_1861del
ENST00000636964.1:n.2285_2287del
ENST00000637054.1:c.198+10217_198+10219del	ENSP00000490807.1:n.198+10217_198+10219del
ENST00000637329.1:c.726_728del
ENST00000637450.1:c.*411_*413del	ENSP00000490204.1:n.*411_*413del
ENST00000637494.1:c.469_471del	ENSP00000490057.1:p.Leu157del
ENST00000637667.1:c.658_660del	ENSP00000489843.1:p.Leu220del
ENST00000637823.1:c.582_584del
ENST00000637888.1:c.198+10217_198+10219del	ENSP00000490546.1:n.198+10217_198+10219del
ENST00000638076.1:c.*360_*362del	ENSP00000490373.1:n.*360_*362del
ENST00000638144.1:n.400_402del
ENST00000646164.1:c.39-8638_39-8636del
ENST00000249806.9:c.757_759del	ENSP00000249806.5:p.Leu253del
ENST00000538696.5:c.853_855del	ENSP00000445770.1:p.Leu285del
ENST00000562767.1:c.84-10691_84-10689del	ENSP00000456336.1:n.84-10691_84-10689del
ENST00000565471.5:c.298_300del	ENSP00000457384.1:p.Leu100del
ENST00000566347.5:c.568_570del	ENSP00000457783.1:p.Leu190del
ENST00000567060.5:c.*155_*157del	ENSP00000454818.1:n.*155_*157del
NM_017882.2:c.757_759del	NP_060352.1:p.Leu253del
NM_017882.3:c.757_759del MANE Select	NP_060352.1:p.Leu253del