Canonical Allele Identifier: CA2184872649

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211794_68211803delinsCCATGATGAA , CM000677.2:g.68211794_68211803delinsCCATGATGAA	GRCh38
NC_000015.9:g.68504132_68504141delinsCCATGATGAA , CM000677.1:g.68504132_68504141delinsCCATGATGAA	GRCh37
NC_000015.8:g.66291186_66291195delinsCCATGATGAA	NCBI36
NG_008764.2:g.50409_50418delinsTTCATCATGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.358_367delinsTTCATCATGG MANE Select	ENSP00000249806.5:p.Phe120=
ENST00000562767.2:c.84-14175_84-14166delinsTTCATCATGG	ENSP00000456336.1:n.84-14175_84-14166deli...
ENST00000563917.2:n.200_209delinsTTCATCATGG
ENST00000565471.6:c.84-2044_84-2035delinsTTCATCATGG	ENSP00000457384.1:n.84-2044_84-2035delins...
ENST00000635747.1:c.*261_*270delinsTTCATCATGG	ENSP00000490627.1:n.*261_*270delinsTTCATC...
ENST00000636212.1:c.298-62_298-53delinsTTCATCATGG	ENSP00000489851.1:n.298-62_298-53delinsTT...
ENST00000636314.1:c.183-485_183-476delinsTTCATCATGG	ENSP00000490295.1:n.183-485_183-476delins...
ENST00000636674.1:n.1341_1350delinsTTCATCATGG
ENST00000636964.1:n.1530_1539delinsTTCATCATGG
ENST00000637054.1:c.198+6733_198+6742delinsTTCATCATGG	ENSP00000490807.1:n.198+6733_198+6742deli...
ENST00000637223.1:c.*201-485_*201-476delinsTTCATCATGG	ENSP00000490010.1:n.*201-485_*201-476deli...
ENST00000637329.1:c.327_336delinsTTCATCATGG
ENST00000637450.1:c.*12_*21delinsTTCATCATGG	ENSP00000490204.1:n.*12_*21delinsTTCATCAT...
ENST00000637494.1:c.199-485_199-476delinsTTCATCATGG	ENSP00000490057.1:n.199-485_199-476delins...
ENST00000637667.1:c.259_268delinsTTCATCATGG	ENSP00000489843.1:p.Phe87=
ENST00000637823.1:c.224-160_224-151delinsTTCATCATGG
ENST00000637888.1:c.198+6733_198+6742delinsTTCATCATGG	ENSP00000490546.1:n.198+6733_198+6742deli...
ENST00000638076.1:c.358_367delinsTTCATCATGG	ENSP00000490373.1:p.Phe120=
ENST00000638144.1:n.130-485_130-476delinsTTCATCATGG
ENST00000646164.1:c.38+6733_38+6742delinsTTCATCATGG
ENST00000249806.9:c.358_367delinsTTCATCATGG	ENSP00000249806.5:p.Phe120=
ENST00000538696.5:c.454_463delinsTTCATCATGG	ENSP00000445770.1:p.Phe152=
ENST00000562767.1:c.84-14175_84-14166delinsTTCATCATGG	ENSP00000456336.1:n.84-14175_84-14166deli...
ENST00000563917.1:n.139_148delinsTTCATCATGG
ENST00000564752.1:c.358_367delinsTTCATCATGG	ENSP00000457822.1:p.Phe120=
ENST00000565471.5:c.84-2044_84-2035delinsTTCATCATGG	ENSP00000457384.1:n.84-2044_84-2035delins...
ENST00000566347.5:c.298-485_298-476delinsTTCATCATGG	ENSP00000457783.1:n.298-485_298-476delins...
ENST00000567060.5:c.298-2083_298-2074delinsTTCATCATGG	ENSP00000454818.1:n.298-2083_298-2074deli...
NM_017882.2:c.358_367delinsTTCATCATGG	NP_060352.1:p.Phe120=
XR_931861.1:n.461_470delinsTTCATCATGG
NM_017882.3:c.358_367delinsTTCATCATGG MANE Select	NP_060352.1:p.Phe120=