Canonical Allele Identifier: CA2184872678

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211803_68211806delinsAGAT , CM000677.2:g.68211803_68211806delinsAGAT	GRCh38
NC_000015.9:g.68504141_68504144delinsAGAT , CM000677.1:g.68504141_68504144delinsAGAT	GRCh37
NC_000015.8:g.66291195_66291198delinsAGAT	NCBI36
NG_008764.2:g.50406_50409delinsATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.355_358delinsATCT MANE Select	ENSP00000249806.5:p.Ile119=
ENST00000562767.2:c.84-14178_84-14175delinsATCT	ENSP00000456336.1:n.84-14178_84-14175delinsATCT
ENST00000563917.2:n.197_200delinsATCT
ENST00000565471.6:c.84-2047_84-2044delinsATCT	ENSP00000457384.1:n.84-2047_84-2044delinsATCT
ENST00000635747.1:c.*258_*261delinsATCT	ENSP00000490627.1:n.*258_*261delinsATCT
ENST00000636212.1:c.298-65_298-62delinsATCT	ENSP00000489851.1:n.298-65_298-62delinsATCT
ENST00000636314.1:c.183-488_183-485delinsATCT	ENSP00000490295.1:n.183-488_183-485delinsATCT
ENST00000636674.1:n.1338_1341delinsATCT
ENST00000636964.1:n.1527_1530delinsATCT
ENST00000637054.1:c.198+6730_198+6733delinsATCT	ENSP00000490807.1:n.198+6730_198+6733delinsATCT
ENST00000637223.1:c.*201-488_*201-485delinsATCT	ENSP00000490010.1:n.*201-488_*201-485delinsATCT
ENST00000637329.1:c.324_327delinsATCT
ENST00000637450.1:c.*9_*12delinsATCT	ENSP00000490204.1:n.*9_*12delinsATCT
ENST00000637494.1:c.199-488_199-485delinsATCT	ENSP00000490057.1:n.199-488_199-485delinsATCT
ENST00000637667.1:c.256_259delinsATCT	ENSP00000489843.1:p.Ile86=
ENST00000637823.1:c.224-163_224-160delinsATCT
ENST00000637888.1:c.198+6730_198+6733delinsATCT	ENSP00000490546.1:n.198+6730_198+6733delinsATCT
ENST00000638076.1:c.355_358delinsATCT	ENSP00000490373.1:p.Ile119=
ENST00000638144.1:n.130-488_130-485delinsATCT
ENST00000646164.1:c.38+6730_38+6733delinsATCT
ENST00000249806.9:c.355_358delinsATCT	ENSP00000249806.5:p.Ile119=
ENST00000538696.5:c.451_454delinsATCT	ENSP00000445770.1:p.Ile151=
ENST00000562767.1:c.84-14178_84-14175delinsATCT	ENSP00000456336.1:n.84-14178_84-14175delinsATCT
ENST00000563917.1:n.136_139delinsATCT
ENST00000564752.1:c.355_358delinsATCT	ENSP00000457822.1:p.Ile119=
ENST00000565471.5:c.84-2047_84-2044delinsATCT	ENSP00000457384.1:n.84-2047_84-2044delinsATCT
ENST00000566347.5:c.298-488_298-485delinsATCT	ENSP00000457783.1:n.298-488_298-485delinsATCT
ENST00000567060.5:c.298-2086_298-2083delinsATCT	ENSP00000454818.1:n.298-2086_298-2083delinsATCT
NM_017882.2:c.355_358delinsATCT	NP_060352.1:p.Ile119=
XR_931861.1:n.458_461delinsATCT
NM_017882.3:c.355_358delinsATCT MANE Select	NP_060352.1:p.Ile119=