Canonical Allele Identifier: CA2629164047

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208290-GAGGAAGAGGCCGTTGCTGTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208301_68208321del , CM000677.2:g.68208301_68208321del	GRCh38
NC_000015.9:g.68500639_68500659del , CM000677.1:g.68500639_68500659del	GRCh37
NC_000015.8:g.66287693_66287713del	NCBI36
NG_008764.2:g.53901_53921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.765_785del MANE Select	ENSP00000249806.5:p.Asp256_Leu262del
ENST00000562767.2:c.84-10683_84-10663del	ENSP00000456336.1:n.84-10683_84-10663del
ENST00000565471.6:c.306_326del	ENSP00000457384.1:p.Asp103_Leu109del
ENST00000635747.1:c.*668_*688del	ENSP00000490627.1:n.*668_*688del
ENST00000636212.1:c.*435_*455del	ENSP00000489851.1:n.*435_*455del
ENST00000636674.1:n.1867_1887del
ENST00000636964.1:n.2293_2313del
ENST00000637054.1:c.198+10225_198+10245del	ENSP00000490807.1:n.198+10225_198+10245del
ENST00000637329.1:c.734_754del
ENST00000637450.1:c.*419_*439del	ENSP00000490204.1:n.*419_*439del
ENST00000637494.1:c.477_497del	ENSP00000490057.1:p.Asp160_Leu166del
ENST00000637667.1:c.666_686del	ENSP00000489843.1:p.Asp223_Leu229del
ENST00000637823.1:c.590_610del
ENST00000637888.1:c.198+10225_198+10245del	ENSP00000490546.1:n.198+10225_198+10245del
ENST00000638076.1:c.*368_*388del	ENSP00000490373.1:n.*368_*388del
ENST00000638144.1:n.408_428del
ENST00000646164.1:c.39-8630_39-8610del
ENST00000249806.9:c.765_785del	ENSP00000249806.5:p.Asp256_Leu262del
ENST00000538696.5:c.861_881del	ENSP00000445770.1:p.Asp288_Leu294del
ENST00000562767.1:c.84-10683_84-10663del	ENSP00000456336.1:n.84-10683_84-10663del
ENST00000565471.5:c.306_326del	ENSP00000457384.1:p.Asp103_Leu109del
ENST00000566347.5:c.576_596del	ENSP00000457783.1:p.Asp193_Leu199del
ENST00000567060.5:c.*163_*183del	ENSP00000454818.1:n.*163_*183del
NM_017882.2:c.765_785del	NP_060352.1:p.Asp256_Leu262del
NM_017882.3:c.765_785del MANE Select	NP_060352.1:p.Asp256_Leu262del