Canonical Allele Identifier: CA2184878034

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208279_68208282delinsAAGG , CM000677.2:g.68208279_68208282delinsAAGG	GRCh38
NC_000015.9:g.68500617_68500620delinsAAGG , CM000677.1:g.68500617_68500620delinsAAGG	GRCh37
NC_000015.8:g.66287671_66287674delinsAAGG	NCBI36
NG_008764.2:g.53930_53933delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.794_797delinsCCTT MANE Select	ENSP00000249806.5:p.Ser265=
ENST00000562767.2:c.84-10654_84-10651delinsCCTT	ENSP00000456336.1:n.84-10654_84-10651delinsCCTT
ENST00000565471.6:c.335_338delinsCCTT	ENSP00000457384.1:p.Ser112=
ENST00000635747.1:c.*697_*700delinsCCTT	ENSP00000490627.1:n.*697_*700delinsCCTT
ENST00000636212.1:c.*464_*467delinsCCTT	ENSP00000489851.1:n.*464_*467delinsCCTT
ENST00000636674.1:n.1896_1899delinsCCTT
ENST00000636964.1:n.2322_2325delinsCCTT
ENST00000637054.1:c.198+10254_198+10257delinsCCTT	ENSP00000490807.1:n.198+10254_198+10257delinsCCTT
ENST00000637329.1:c.763_766delinsCCTT
ENST00000637450.1:c.*448_*451delinsCCTT	ENSP00000490204.1:n.*448_*451delinsCCTT
ENST00000637494.1:c.506_509delinsCCTT	ENSP00000490057.1:p.Ser169=
ENST00000637667.1:c.695_698delinsCCTT	ENSP00000489843.1:p.Ser232=
ENST00000637823.1:c.619_622delinsCCTT
ENST00000637888.1:c.198+10254_198+10257delinsCCTT	ENSP00000490546.1:n.198+10254_198+10257delinsCCTT
ENST00000638076.1:c.*397_*400delinsCCTT	ENSP00000490373.1:n.*397_*400delinsCCTT
ENST00000638144.1:n.437_440delinsCCTT
ENST00000646164.1:c.39-8601_39-8598delinsCCTT
ENST00000249806.9:c.794_797delinsCCTT	ENSP00000249806.5:p.Ser265=
ENST00000538696.5:c.890_893delinsCCTT	ENSP00000445770.1:p.Ser297=
ENST00000562767.1:c.84-10654_84-10651delinsCCTT	ENSP00000456336.1:n.84-10654_84-10651delinsCCTT
ENST00000565471.5:c.335_338delinsCCTT	ENSP00000457384.1:p.Ser112=
ENST00000566347.5:c.605_608delinsCCTT	ENSP00000457783.1:p.Ser202=
ENST00000567060.5:c.*192_*195delinsCCTT	ENSP00000454818.1:n.*192_*195delinsCCTT
NM_017882.2:c.794_797delinsCCTT	NP_060352.1:p.Ser265=
NM_017882.3:c.794_797delinsCCTT MANE Select	NP_060352.1:p.Ser265=