Canonical Allele Identifier: CA2184879650

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209731_68209746delinsTGAAGAGGATGAGGAA , CM000677.2:g.68209731_68209746delinsTGAAGAGGATGAGGAA	GRCh38
NC_000015.9:g.68502069_68502084delinsTGAAGAGGATGAGGAA , CM000677.1:g.68502069_68502084delinsTGAAGAGGATGAGGAA	GRCh37
NC_000015.8:g.66289123_66289138delinsTGAAGAGGATGAGGAA	NCBI36
NG_008764.2:g.52466_52481delinsTTCCTCATCCTCTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.556_571delinsTTCCTCATCCTCTTCA MANE Select	ENSP00000249806.5:p.Phe186=
ENST00000562767.2:c.84-12118_84-12103delinsTTCCTCATCCTCTTCA	ENSP00000456336.1:n.84-12118_84-12103delinsTTCCTCATCCTCTTCA
ENST00000563917.2:n.398_413delinsTTCCTCATCCTCTTCA
ENST00000565471.6:c.97_112delinsTTCCTCATCCTCTTCA	ENSP00000457384.1:p.Phe33=
ENST00000635747.1:c.*459_*474delinsTTCCTCATCCTCTTCA	ENSP00000490627.1:n.*459_*474delinsTTCCTCATCCTCTTCA
ENST00000636212.1:c.*226_*241delinsTTCCTCATCCTCTTCA	ENSP00000489851.1:n.*226_*241delinsTTCCTCATCCTCTTCA
ENST00000636314.1:c.252_267delinsTTCCTCATCCTCTTCA	ENSP00000490295.1:p.Ser84=
ENST00000636674.1:n.1658_1673delinsTTCCTCATCCTCTTCA
ENST00000636964.1:n.2084_2099delinsTTCCTCATCCTCTTCA
ENST00000637054.1:c.198+8790_198+8805delinsTTCCTCATCCTCTTCA	ENSP00000490807.1:n.198+8790_198+8805delinsTTCCTCATCCTCTTCA
ENST00000637223.1:c.*270_*285delinsTTCCTCATCCTCTTCA	ENSP00000490010.1:n.*270_*285delinsTTCCTCATCCTCTTCA
ENST00000637329.1:c.525_540delinsTTCCTCATCCTCTTCA
ENST00000637450.1:c.*210_*225delinsTTCCTCATCCTCTTCA	ENSP00000490204.1:n.*210_*225delinsTTCCTCATCCTCTTCA
ENST00000637494.1:c.268_283delinsTTCCTCATCCTCTTCA	ENSP00000490057.1:p.Phe90=
ENST00000637667.1:c.457_472delinsTTCCTCATCCTCTTCA	ENSP00000489843.1:p.Phe153=
ENST00000637823.1:c.381_396delinsTTCCTCATCCTCTTCA
ENST00000637888.1:c.198+8790_198+8805delinsTTCCTCATCCTCTTCA	ENSP00000490546.1:n.198+8790_198+8805delinsTTCCTCATCCTCTTCA
ENST00000638076.1:c.*159_*174delinsTTCCTCATCCTCTTCA	ENSP00000490373.1:n.*159_*174delinsTTCCTCATCCTCTTCA
ENST00000638144.1:n.199_214delinsTTCCTCATCCTCTTCA
ENST00000646164.1:c.38+8790_38+8805delinsTTCCTCATCCTCTTCA
ENST00000249806.9:c.556_571delinsTTCCTCATCCTCTTCA	ENSP00000249806.5:p.Phe186=
ENST00000538696.5:c.652_667delinsTTCCTCATCCTCTTCA	ENSP00000445770.1:p.Phe218=
ENST00000562767.1:c.84-12118_84-12103delinsTTCCTCATCCTCTTCA	ENSP00000456336.1:n.84-12118_84-12103delinsTTCCTCATCCTCTTCA
ENST00000563917.1:n.456_471delinsTTCCTCATCCTCTTCA
ENST00000564752.1:c.582_597delinsTTCCTCATCCTCTTCA	ENSP00000457822.1:p.Ser194=
ENST00000565471.5:c.97_112delinsTTCCTCATCCTCTTCA	ENSP00000457384.1:p.Phe33=
ENST00000566347.5:c.367_382delinsTTCCTCATCCTCTTCA	ENSP00000457783.1:p.Phe123=
ENST00000567060.5:c.298-26_298-11delinsTTCCTCATCCTCTTCA	ENSP00000454818.1:n.298-26_298-11delinsTTCCTCATCCTCTTCA
NM_017882.2:c.556_571delinsTTCCTCATCCTCTTCA	NP_060352.1:p.Phe186=
XR_931861.1:n.778_793delinsTTCCTCATCCTCTTCA
NM_017882.3:c.556_571delinsTTCCTCATCCTCTTCA MANE Select	NP_060352.1:p.Phe186=